Descriptor: "Genetic factors" / Topic: risk factors - Searchworks@Jio Institute Digital Library Search Results

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56 results on '"Genetic factors"'

1. The Construction of a Multidomain Risk Model of Alzheimer's Disease and Related Dementias.

Author: Akushevich, Igor, Yashkin, Arseniy, Ukraintseva, Svetlana, Yashin, Anatoliy I., and Kravchenko, Julia
Subjects: DISEASE risk factors, CEREBROVASCULAR disease, APOLIPOPROTEIN E4, ALZHEIMER'S disease, DEMENTIA, BRAIN injuries
Abstract: Background: Alzheimer's disease (AD) and related dementia (ADRD) risk is affected by multiple dependent risk factors; however, there is no consensus about their relative impact in the development of these disorders. Objective: To rank the effects of potentially dependent risk factors and identify an optimal parsimonious set of measures for predicting AD/ADRD risk from a larger pool of potentially correlated predictors. Methods: We used diagnosis record, survey, and genetic data from the Health and Retirement Study to assess the relative predictive strength of AD/ADRD risk factors spanning several domains: comorbidities, demographics/socioeconomics, health-related behavior, genetics, and environmental exposure. A modified stepwise-AIC-best-subset blanket algorithm was then used to select an optimal set of predictors. Results: The final predictive model was reduced to 10 features for AD and 19 for ADRD; concordance statistics were about 0.85 for one-year and 0.70 for ten-year follow-up. Depression, arterial hypertension, traumatic brain injury, cerebrovascular diseases, and the APOE4 proxy SNP rs769449 had the strongest individual associations with AD/ADRD risk. AD/ADRD risk-related co-morbidities provide predictive power on par with key genetic vulnerabilities. Conclusion: Results confirm the consensus that circulatory diseases are the main comorbidities associated with AD/ADRD risk and show that clinical diagnosis records outperform comparable self-reported measures in predicting AD/ADRD risk. Model construction algorithms combined with modern data allows researchers to conserve power (especially in the study of disparities where disadvantaged groups are often grossly underrepresented) while accounting for a high proportion of AD/ADRD-risk-related population heterogeneity stemming from multiple domains. [ABSTRACT FROM AUTHOR]
Published: 2023
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2. Influencia de los factores de riesgo en la finalización del embarazo en el primer trimestre de gestación en relación con la edad materna.

Author: Bonilla Ledesma, Deysi Viviana, Pomasqui Pomasqui, Cintya Alejandra, and Vargas Peña, Julio Jesús
Subjects: ABORTION, SCIENTIFIC literature, HUMAN abnormalities, MISCARRIAGE, MATERNAL age, CLINICAL trials, COHORT analysis
Abstract: Copyright of Dilemas Contemporáneos: Educación, Política y Valores is the property of Dilemas Contemporaneos: Educacion, Politica y Valores and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2023

3. Family history of arterial hypertension and central adiposity: impact on blood pressure in schoolchildren.

Author: Tozo, Tatiana Aparecida Affornali, Gisi, Maria Lourdes, Brand, Caroline, Moreira, Carla Marisa Maia, Pereira, Beatriz Oliveira, and Leite, Neiva
Subjects: OBESITY complications, ADIPOSE tissue physiology, HYPERTENSION epidemiology, HYPERTENSION, BLOOD pressure, OBESITY, CROSS-sectional method, WAIST circumference, IMPACT of Event Scale, BODY mass index
Abstract: Background: A family history of arterial hypertension is an important risk factor for arterial hypertension. This study aimed to verify the mediating role of high central adiposity in the relationship between family history of arterial hypertension and blood pressure in schoolchildren.Methods: Cross-sectional study with 118 schoolchildren of both sexes aged between 11 and 17 years. Weight, height, waist circumference and body mass index z score were verified. Somatic maturation was predicted by age for peak growth velocity. The family history of arterial hypertension was verified and defined as hypertensive schoolchildren with systolic blood pressure or diastolic blood pressure. Mediation analysis was used with linear regression models applied by PROCESS macro for SPSS (version 22.0), with significance p < 0.05.Results: It was observed that 34.7% of the students have family history of arterial hypertension, 36% of the girls and 44.2% of the boys have arterial hypertension. In girls, the relationship between waist circumference and systolic blood pressure was direct (β = 0.535 p = 0.005), and those with a family history of arterial hypertension and who had a waist circumference greater than those without a family history of arterial hypertension was significant (β = -5,437 p = 0.009). Likewise, the relationship between family history of arterial hypertension and systolic blood pressure was attenuated when waist circumference was included in the model (β = -5.544; p = 0.103), indicating waist circumference as a mediator with an influence percentage of 19%. For boys, waist circumference is not a mediator of the relationship between family history of arterial hypertension and blood pressure.Conclusions: Elevated central adiposity was a mediator of the relationship between family history of arterial hypertension and high blood pressure in girls, indicating the importance of family health strategies in the prevention and management of arterial hypertension in children and adolescents. [ABSTRACT FROM AUTHOR]
Published: 2022
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4. Risk factors profile of young and older patients with myocardial infarction.

Author: Sagris, Marios, Antonopoulos, Alexios S, Theofilis, Panagiotis, Oikonomou, Evangelos, Siasos, Gerasimos, Tsalamandris, Sotirios, Antoniades, Charalambos, Brilakis, Emmanouil S, Kaski, Juan C, and Tousoulis, Dimitris
Subjects: OLDER patients, MYOCARDIAL infarction, YOUNG adults, ATHEROSCLEROTIC plaque, LIPID metabolism, ANABOLIC steroids
Abstract: Myocardial infarction (MI) among young adults (<45 years) represents a considerable proportion of the total heart attack incidents. The underlying pathophysiologic characteristics, atherosclerotic plaque features, and risk factors profile differ between young and older patients with MI. This review article discusses the main differences between the younger and elderly MI patients as well as the different pathogenic mechanisms underlying the development of MI in the younger. Young patients with MI often have eccentric atherosclerotic plaques with inflammatory features but fewer lesions, and are more likely to be smokers, obese, and have poor lifestyle, such as inactivity and alcohol intake. Compared to older MI patients, younger are more likely to be men, have familial-combined hyperlipidaemia and increased levels of lipoprotein-a. In addition, MI in younger patients may be related to use of cannabis, cocaine use, and androgenic anabolic steroids. Genomic differences especially in the pathways of coagulation and lipid metabolism have also been identified between young and older patients with MI. Better understanding of the risk factors and the anatomic and pathophysiologic processes in young adults can improve MI prevention and treatment strategies in this patient group. Awareness could help identify young subjects at increased risk and guide primary prevention strategies. Additional studies focusing on gene pathways related to lipid metabolism, inflammation, and coagulation are needed. [ABSTRACT FROM AUTHOR]
Published: 2022
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5. BRAIN AS THE HOUSE OF AUTISTIC SOUL: CURRENT TRENDS IN ANALYZING THE RISK FACTORS AND BUILDING UP THE DIAGNOSIS IN MILD FORMS OF AUTISM SPECTRUM DISORDER.

Author: KOPANSKA, M., OCHOJSKA, D., BANAS-ZABCZYK, A., SOCHOCKA, M., OCHNIK, M., TORICES, S., MORGAN, R. C., LESZEK, J., PODGORSKA-BEDNARZ, J., and SZCZYGIELSKI, J.
Subjects: CHILDREN with autism spectrum disorders, AUTISM spectrum disorders, DEVELOPMENTAL psychology, BRAIN injuries, DIAGNOSIS
Abstract: The number of children with Autism Spectrum Disorder (ASD) has significantly increased over the last few years. On the one hand, this surge may be associated with increased awareness of this entity and the greater availability of diagnostic tools. On the other hand, influence of factors believed to cause or facilitate ASD development (including environment pollution, stress of modern civilization, brain trauma and use of drugs) could have a negative impact on individuals in the phase of their social and psychological development. Due to the increasing problem, more and more attention is being focused on early detection of ASD, what allows to intervene at the earliest time point. In consequence, the quality of life of ASD-affected people may be significantly improved if diagnosed early. In this review, the list of possible risk factors for ASD is critically appraised and some "pearls for practice", helping in early diagnosis of even mild ASD are outlined. [ABSTRACT FROM AUTHOR]
Published: 2021
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6. Major Predictive Factors for Progression of Early to Late Age-Related Macular Degeneration.

Author: Sitnilska, Vasilena, Kersten, Eveline, Altay, Lebriz, Schick, Tina, Enders, Philip, de Jong, Eiko K., Langmann, Thomas, Hoyng, Carel B., den Hollander, Anneke I., and Fauser, Sascha
Subjects: RETINAL degeneration, SINGLE nucleotide polymorphisms, OPTICAL coherence tomography, INFRARED imaging, COLOR photography
Abstract: Introduction: We present a prediction model for progression from early/intermediate to advanced age-related macular degeneration (AMD) within 5.9 years. Objectives: To evaluate the combined role of genetic, nongenetic, and phenotypic risk factors for conversion from early to late AMD over ≥5 years. Methods: Baseline phenotypic characteristics were evaluated based on color fundus photography, spectral-domain optical coherence tomography, and infrared images. Genotyping for 36 single-nucleotide polymorphisms as well as systemic lipid and complement measurements were performed. Multivariable backward logistic regression resulted in a final prediction model. Results and Conclusions: During a mean of 5.9 years of follow-up, 22.4% (n = 52) of the patients (n = 232) showed progression to late AMD. The multivariable prediction model included age, CFH variant rs1061170, pigment abnormalities, drusenoid pigment epithelial detachment (DPED), and hyperreflective foci (HRF). The model showed an area under the curve of 0.969 (95% confidence interval 0.948–0.990) and adequate calibration (Hosmer-Lemeshow test, p = 0.797). In addition to advanced age and carrying a CFH variant, pigment abnormalities, DPED, and HRF are relevant imaging biomarkers for conversion to late AMD. In clinical routine, an intensified monitoring of patients with a high-risk phenotypic profile may be suitable for the early detection of conversion to late AMD. [ABSTRACT FROM AUTHOR]
Published: 2020
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7. Family history of arterial hypertension and central adiposity: impact on blood pressure in schoolchildren

Author: Tatiana Aparecida Affornali Tozo, Maria Lourdes Gisi, Caroline Brand, Carla Marisa Maia Moreira, Beatriz Oliveira Pereira, Neiva Leite, and Universidade do Minho
Subjects: Male, Genetic factors, Science & Technology, Adolescent, Schoolchildren, Blood Pressure, Ciências Sociais::Ciências da Educação, Body Mass Index, Educação de qualidade, Cross-Sectional Studies, Risk Factors, Obesity, Abdominal, Hypertension, Pediatrics, Perinatology and Child Health, Humans, Female, Obesity, Waist Circumference, Child, Adiposity
Abstract: Background: A family history of arterial hypertension is an important risk factor for arterial hypertension. This study aimed to verify the mediating role of high central adiposity in the relationship between family history of arterial hypertension and blood pressure in schoolchildren. Methods: Cross-sectional study with 118 schoolchildren of both sexes aged between 11 and 17 years. Weight, height, waist circumference and body mass index z score were verified. Somatic maturation was predicted by age for peak growth velocity. The family history of arterial hypertension was verified and defined as hypertensive schoolchildren with systolic blood pressure or diastolic blood pressure. Mediation analysis was used with linear regression models applied by PROCESS macro for SPSS (version 22.0), with significance p < 0.05. Results: It was observed that 34.7% of the students have family history of arterial hypertension, 36% of the girls and 44.2% of the boys have arterial hypertension. In girls, the relationship between waist circumference and systolic blood pressure was direct (β = 0.535 p = 0.005), and those with a family history of arterial hypertension and who had a waist circumference greater than those without a family history of arterial hypertension was significant (β = -5,437 p = 0.009). Likewise, the relationship between family history of arterial hypertension and systolic blood pressure was attenuated when waist circumference was included in the model (β = -5.544; p = 0.103), indicating waist circumference as a mediator with an influence percentage of 19%. For boys, waist circumference is not a mediator of the relationship between family history of arterial hypertension and blood pressure. Conclusions: Elevated central adiposity was a mediator of the relationship between family history of arterial hypertension and high blood pressure in girls, indicating the importance of family health strategies in the prevention and management of arterial hypertension in children and adolescents., Este trabalho foi financiado por Fundos Nacionais através da FCT – Fundação para a Ciência e a Tecnologia no âmbito dos projetos do CIEC (Centro de Investigação em Estudos da Criança da Universidade do Minho) com as referências UIDB/00317/2020 e UIDP/00317/2020., This study was funded by Coordination for the Improvement of Higher Education Personnel (CAPES), the National Council for Scientific and Technological Development (CNPq by National Funds through FCT – Foundation for Science and Technology within the scope of the CIEC project (Research Center for Child Studies at the University of Minho) with reference UIDB/00317/2020 and the Research Group: Educational Policies: Conceptions and Practices – PPECP of the Graduate Program in Education at the Pontifical Catholic University of Paraná—PUCPR.
Published: 2022
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8. Polymorphism of the detoxification system genes and the main hystocompatibility complex HLA of Ii class in extremely premature newborns with congenital pneumonia

Author: N. A. Shilova, I. N. Fetisova, S. S. Mezhinskiy, T. V. Chasha, I. A. Panova, L. V. Kulida, and S. Yu. Ratnikova
Subjects: musculoskeletal diseases, gene polymorphism, Disease, Human leukocyte antigen, detoxification genes, Pediatrics, RJ1-570, law.invention, law, Polymorphism (computer science), immune system diseases, Genotype, Medicine, risk factors, preterm newborns, Allele, skin and connective tissue diseases, Polymerase chain reaction, Respiratory distress, congenital pneumonia, business.industry, major histocompatibility complex, Pediatrics, Perinatology and Child Health, Immunology, genetic factors, Gene polymorphism, business
Abstract: Objective. To study the polymorphism of HLA system genes of II class (DRB1, DQA1, DQB1) in extremely preterm infants with birth weight less than l500g with congenital pneumonia, and to determine the risk factors for the formation of this disease. Material and methods . The researchers carried out a comprehensive study of 103 newborns. Group I: children with clinical and laboratory signs of congenital pneumonia («=61), and Group II: children with respiratory distress syndrome and without congenital pneumonia («=42). Genomic DNA was isolated from lymphocytes of venous blood and buccal scraping epithelial cells. The HLA class II genes were analyzed using a classical polymerase chain reaction. Results . The group of children with congenital pneumonia revealed an increase in the frequency of alleles DRB1*04 and DRB1*15, together with DQB1 0302/0602 genotype, thus, these genes may have the predisposing effect to the development of this disease and may serve a molecular genetic predictor of this disease. The genotype of preterm newborns with congenital pneumonia included the DRB1*13, DQA1*0103, DQB1*0501, DRB1*13/13; DQA1*0101/0103; DQB1*0501/0602; GSTM1 +/+ GSTT1 +/+ DRB1*13 DQA1*0501 DQB1*0301, alleles less frequently, those alleles had a protective effect against the development of the lung tissue inflammation. We found no statistically significant differences in the frequency of low-functional alleles of the glutatitone-S-trans-ferase family genes (GSTM1 and GStTi). Conclusion. The results of the study can be used to personalize the treatment and diagnostic process for preterm infants.
Published: 2020

9. Avascular Necrosis of Femoral Head in the Republic of Bashkortostan: a Clinical and Epidemiological Study

Author: R. N. Mustafin
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, RD1-811, media_common.quotation_subject, Avascular necrosis, morbidity, Disease, Osteoarthritis, 03 medical and health sciences, Femoral head, 0302 clinical medicine, Medicine, risk factors, RC254-282, media_common, Sciatica, 030222 orthopedics, Daughter, business.industry, osteonecrosis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, General Medicine, medicine.disease, femoral head necrosis, osteoarthritis, 030104 developmental biology, medicine.anatomical_structure, Concomitant, Etiology, genetic factors, Surgery, medicine.symptom, business, radiography
Abstract: Introduction. Avascular necrosis of the femoral head (AVNFH) is a relatively rare complex disease that occurs in people of working age and leads to disability due to irreversible changes in the aff ected hip joint. Aetiology of the disease has not been reliably established so far.Materials and methods. Among a total of 42,877 residents of Ufa surveyed, 71 were diagnosed with AVNFH. Patients granted an informed consent to conduct the survey, access the outpatient history of concomitant pathology, perform hip X-ray and laboratory blood tests.Results and discussion. Th e AVNFH incidence rate was 166 per 100,000 people, with the men to women ratio 1:1.5 and average age of manifestation 50 years. Secondary necrosis was established in 14, and bilateral lesion — in 42 % of cases. A family with hereditary AVNFH (mother, daughter and grandmother) was observed. A significantly higher incidence rate was observed with children in mononational families, which suggests a protective role of crossbreeding against this pathology. In 31 % of patients, the disease manifested atypically resembling lumbago with sciatica, which entailed a late AVNFH diagnosis. Smoking and long-term contact with chemicals were identified as the risk factors, and hypertension, chronic cerebral ischemia, anaemia, hypercholesterolemia and chronic inflammation — as associated disorders. A radiological profi le of the disease is described.Conclusion. Th e study allowed a precise estimation of the AVNFH incidence rate as 1 per 600 people. Idiopathic AVNFH occurred in 86 % of cases, with smoking and professional long-term contact with chemical agents as associated risk factors. Pedigree studies exposed a low incident rate in ethnically mixed families. AVNFH was shown comorbid with the hypertensive disease in 56 and chronic cerebral ischemia — in 42 % of patients. Atypical lumbago-sciatica-like symptoms in 1/3 of AVNFH cases warrant the need to conduct hip X-ray and MRI in this category of patients.
Published: 2020

10. Modifiable potential risk factors in familial and sporadic frontotemporal lobar degeneration

Author: Soppela, Helmi, Lääketieteen laitos, School of Medicine, Terveystieteiden tiedekunta, Lääketieteen laitos, Faculty of Health Sciences, School of Medicine, Terveystieteiden tiedekunta, and Faculty of Health Sciences
Subjects: otsa-ohimolohkorappeumat, komorbiditet, medicine, genotype, lääketiede, genotyyppi, hjärt-kärlsjukdomar, risk factors, demens, komorbiditeetti, diabetes, mutationer, frontotemporal lobär degeneration, riskitekijät, genetiska faktorer, mutations, genotyp, cardiovascular diseases, comorbidity, frontotemporal lobar degeneration, sydän- ja verisuonitaudit, genetic factors, riskfaktorer, mutaatiot, geneettiset tekijät, dementia
Published: 2022

11. Title: Risk Factors for the Diagnosis of Colorectal Cancer

Author: Lewandowska, Anna, Rudzki, Grzegorz, Lewandowski, Tomasz, Stryjkowska-Góra, Aleksandra, and Rudzki, Sławomir
Subjects: Male, Incidence, Smoking, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, colorectal cancer, cancer risk, Middle Aged, Diet, environmental factors, Risk Factors, Case-Control Studies, genetic factors, Humans, Colitis, Ulcerative, Female, Original Research Article, Obesity, Colorectal Neoplasms, Exercise, Life Style, Early Detection of Cancer, RC254-282, Aged
Abstract: Background Colorectal cancer defined as cancer of the colon or rectum, is the third most frequently diagnosed cancer in men and the second in women, and, according to the World Health Organization database GLOBOCAN, it accounts for nearly 1.4 million new cases annually worldwide. The occurrence of colorectal cancer is associated with nonmodifiable risk factors, including age and hereditary factors, as well as with modifiable environmental and lifestyle factors. Methods The study included 800 patients, 400 diagnosed with colorectal cancer and 400 within the control group, who gave their written informed consent to participate in the study. Patients with cancer other than colorectal cancer were randomly selected for control group I, and patients with no cancer diagnosis were selected for control group II. The method used was a case-control study – an observational and analytical study with a control group, conducted among patients of the Clinical Oncology Centre and the Provincial Hospital in the years 2019–2020. The study comparing the exposure was carried out in a group of people who developed the endpoint, that is colorectal cancer, with the exposure in a well-matched group of controls who did not reach the endpoint. Assessment of activity and BMI was used according to WHO recommendations, as well as the expert system. The data were tested for the distribution and the homogeneity of variance was validated before applying the parameter tests. Comparison of quantitative variables between groups was performed using ANOVA. Results The mean age of the patients was 64.53 ± 8.86 years, of the control group I – 59.64 ± 9.33 and the control group II – 57.5 (7.83). There was a strong positive association between the incidence of ulcerative colitis and the risk of colorectal cancer ( P < .01). Among obese subjects, the risk of developing colorectal cancer was 1.27 (95% CI, 1.06–1.53) compared with nonobese subjects. A strong positive relationship was found between low physical activity converted to metabolic equivalent of MET effort per week and the risk of colorectal cancer ( P < .001). The relative risk for current smokers was 2.17 (95% CI 1.79–2.66). There was an association between higher fat consumption and higher red meat consumption and the risk of developing colorectal cancer ( P < .01). Conclusions Obesity, low physical activity, active and passive smoking and high salt and red meat consumption have been associated with an increased risk of colorectal cancer. These findings provide further evidence of the importance of maintaining a healthy lifestyle.
Published: 2022

12. Investigation on factors associated with ovarian cancer: an umbrella review of systematic review and meta-analyses

Author: Leila Janani, Azadeh Mottaghi, R Rajabzadeh, Marzieh Nojomi, Marzieh Moradi, Samaneh Lotfi, and Kiarash Tanha
Subjects: medicine.medical_specialty, Genetic factors, medicine.medical_treatment, Review, Cochrane Library, Hysterectomy, Coffee, Meta-Analysis as Topic, Uterine cancer, Ovarian cancer, Risk Factors, Internal medicine, medicine, Environmental factors, Humans, Genetic Predisposition to Disease, Obesity, Risk factor, Methylenetetrahydrofolate Reductase (NADPH2), Ovum, Ovarian Neoplasms, Protective factor, business.industry, Estrogen Replacement Therapy, Smoking, Obstetrics and Gynecology, Gynecology and obstetrics, medicine.disease, Dietary Fats, Nutritional factors, Systematic review, Oncology, Talc, RG1-991, Receptors, Calcitriol, Female, Hormone therapy, business, Breast feeding, Systematic Reviews as Topic
Abstract: Following cervical and uterine cancer, ovarian cancer (OC) has the third rank in gynecologic cancers. It often remains non-diagnosed until it spreads throughout the pelvis and abdomen. Identification of the most effective risk factors can help take prevention measures concerning OC. Therefore, the presented review aims to summarize the available studies on OC risk factors. A comprehensive systematic literature search was performed to identify all published systematic reviews and meta-analysis on associated factors with ovarian cancer. Web of Science, Cochrane Library databases, and Google Scholar were searched up to 17th January 2020. This study was performed according to Smith et al. methodology for conducting a systematic review of systematic reviews. Twenty-eight thousand sixty-two papers were initially retrieved from the electronic databases, among which 20,104 studies were screened. Two hundred seventy-seven articles met our inclusion criteria, 226 of which included in the meta-analysis. Most commonly reported genetic factors were MTHFR C677T (OR=1.077; 95 % CI (1.032, 1.124); P-value
Published: 2021

13. Frailty and the risk of dementia: is the association explained by shared environmental and genetic factors?

Author: Yunzhang Wang, Juulia Jylhävä, Yasutake Tomata, Nancy L. Pedersen, Sara Hägg, Xia Li, Ida K. Karlsson, Ge Bai, Ralf Kuja-Halkola, Tampere University, and Health Sciences
Subjects: Adult, Genetic factors, Twin design, Frail Elderly, Cohort Studies, Risk Factors, medicine, Dementia, Humans, Cognitive Dysfunction, Risk factor, Association (psychology), Geriatric Assessment, Aged, Aged, 80 and over, Frailty, business.industry, Hazard ratio, Cognition, General Medicine, Middle Aged, medicine.disease, Confidence interval, 3141 Health care science, Cohort, Medicine, business, Cohort study, Demography, Research Article
Abstract: Background Frailty has been identified as a risk factor for cognitive impairment and dementia. However, it is not known whether familial factors, such as genetics and shared environmental factors, underlie this association. We analyzed the association between frailty and the risk of dementia in a large twin cohort and examined the role of familial factors in the association. Methods The Rockwood frailty index (FI) based on 44 health deficits was used to assess frailty. The population-level association between FI and the risk of all-cause dementia was analyzed in 41,550 participants of the Screening Across the Lifespan Twin (SALT) study (full sample, aged 41–97 years at baseline), using Cox and competing risk models. A subsample of 10,487 SALT participants aged 65 and older who received a cognitive assessment (cognitive sample) was used in a sensitivity analysis to assess the effect of baseline cognitive level on the FI-dementia association. To analyze the influence of familial effects on the FI-dementia association, a within-pair analysis was performed. The within-pair model was also used to assess whether the risk conferred by frailty varies by age at FI assessment. Results A total of 3183 individuals were diagnosed with dementia during the 19-year follow-up. A 10% increase in FI was associated with an increased risk of dementia (hazard ratio [HR] 1.17 (95% confidence interval [CI] 1.07, 1.18)) in the full sample adjusted for age, sex, education, and tobacco use. A significant association was likewise found in the cognitive sample, with an HR of 1.13 (95% CI 1.09, 1.20), adjusted for age, sex, and cognitive level at baseline. The associations were not attenuated when adjusted for APOE ɛ4 carrier status or considering the competing risk of death. After adjusting for familial effects, we found no evidence for statistically significant attenuation of the effect. The risk conferred by higher FI on dementia was constant after age 50 until very old age. Conclusions A higher level of frailty predicts the risk of dementia and the association appears independent of familial factors. Targeting frailty might thus contribute to preventing or delaying dementia.
Published: 2021

14. Endometrial carcinoma-related genetic factors: application to research and clinical practice in China.

Author: Zhou, JY, Zhang, L, Wei, LH, and Wang, JL
Subjects: ENDOMETRIAL cancer, HEREDITARY nonpolyposis colorectal cancer, HISTONE acetyltransferase, BODY mass index, GENETIC disorders, GENETICS, DIAGNOSIS of hereditary nonpolyposis colorectal cancer, ASIANS, DISEASE susceptibility, GENETIC polymorphisms, MEDICAL research, GENETIC testing, DISEASE progression, ENDOMETRIAL tumors, SEQUENCE analysis, EARLY detection of cancer, DIAGNOSIS
Abstract: Copyright of BJOG: An International Journal of Obstetrics & Gynaecology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2016
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15. Genome-wide analysis identifies novel susceptibility loci for myocardial infarction

Author: Hartiala, Jaana A, Han, Yi, Jia, Qiong, Hilser, James R, Huang, Pin, Gukasyan, Janet, Schwartzman, William S, Cai, Zhiheng, Biswas, Subarna, Trégouët, David-Alexandre, Smith, Nicholas L, INVENT Consortium, CHARGE Consortium Hemostasis Working Group, GENIUS-CHD Consortium, Seldin, Marcus, Pan, Calvin, Mehrabian, Margarete, Lusis, Aldons J, Bazeley, Peter, Sun, Yan V, Liu, Chang, Quyyumi, Arshed A, Scholz, Markus, Thiery, Joachim, Delgado, Graciela E, Kleber, Marcus E, März, Winfried, Howe, Laurence J, Asselbergs, Folkert W, van Vugt, Marion, Vlachojannis, Georgios J, Patel, Riyaz S, Lyytikäinen, Leo-Pekka, Kähönen, Mika, Lehtimäki, Terho, Nieminen, Tuomo VM, Kuukasjärvi, Pekka, Laurikka, Jari O, Chang, Xuling, Heng, Chew-Kiat, Jiang, Rong, Kraus, William E, Hauser, Elizabeth R, Ferguson, Jane F, Reilly, Muredach P, Ito, Kaoru, Koyama, Satoshi, Kamatani, Yoichiro, Komuro, Issei, Biobank Japan, Stolze, Lindsey K, Romanoski, Casey E, Khan, Mohammad Daud, Turner, Adam W, Miller, Clint L, Aherrahrou, Redouane, Civelek, Mete, Ma, Lijiang, Björkegren, Johan LM, Kumar, S Ram, Tang, WH Wilson, Hazen, Stanley L, and Allayee, Hooman
Subjects: Genome-wide association study, Aging, Genetic factors, SLC44A3, Clinical Sciences, Myocardial Infarction, INVENT Consortium, Coronary Artery Disease, Cardiorespiratory Medicine and Haematology, Cardiovascular, Japan, Risk Factors, Clinical Research, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, CHARGE Consortium Hemostasis Working Group, Polymorphism, Aetiology, Heart Disease - Coronary Heart Disease, Human Genome, Endothelial Cells, Single Nucleotide, Atherosclerosis, Biobank Japan, Meta-analysis, Heart Disease, GENIUS-CHD Consortium, Cardiovascular System & Hematology
Abstract: AimsWhile most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation.Methods and resultsWe carried out a genome-wide association study for MI in the UK Biobank (n∼472000), followed by a meta-analysis with summary statistics from the CARDIoGRAMplusC4D Consortium (n∼167000). Multiple independent replication analyses and functional approaches were used to prioritize loci and evaluate positional candidate genes. Eight novel regions were identified for MI at the genome wide significance level, of which effect sizes at six loci were more robust for MI than for CAD without the presence of MI. Confirmatory evidence for association of a locus on chromosome 1p21.3 harbouring choline-like transporter 3 (SLC44A3) with MI in the context of CAD, but not with coronary atherosclerosis itself, was obtained in Biobank Japan (n∼165000) and 16 independent angiography-based cohorts (n∼27000). Follow-up analyses did not reveal association of the SLC44A3 locus with CAD risk factors, biomarkers of coagulation, other thrombotic diseases, or plasma levels of a broad array of metabolites, including choline, trimethylamine N-oxide, and betaine. However, aortic expression of SLC44A3 was increased in carriers of the MI risk allele at chromosome 1p21.3, increased in ischaemic (vs. non-diseased) coronary arteries, up-regulated in human aortic endothelial cells treated with interleukin-1β (vs. vehicle), and associated with smooth muscle cell migration in vitro.ConclusionsA large-scale analysis comprising ∼831000 subjects revealed novel genetic determinants of MI and implicated SLC44A3 in the pathophysiology of vulnerable plaques.
Published: 2021

16. Eur Heart J

Author: Yoichiro Kamatani, Markus Scholz, Pin Huang, Marcus E. Kleber, Chang Liu, Aldons J. Lusis, Zhiheng Cai, Janet Gukasyan, Yi Han, Georgios J. Vlachojannis, W.H. Wilson Tang, Satoshi Koyama, Johan L.M. Björkegren, Margarete Mehrabian, David-Alexandre Trégouët, Hooman Allayee, Folkert W. Asselbergs, Peter Bazeley, Elizabeth R. Hauser, Casey E. Romanoski, Mohammad Daud Khan, Leo-Pekka Lyytikäinen, Riyaz S. Patel, Issei Komuro, Tuomo Nieminen, Stanley L. Hazen, Qiong Jia, Muredach P. Reilly, Redouane Aherrahrou, Xuling Chang, Jari Laurikka, James R. Hilser, Marion van Vugt, William E. Kraus, Clint L. Miller, Kaoru Ito, Jaana Hartiala, Marcus M. Seldin, Calvin Pan, Winfried März, Joachim Thiery, Jane F. Ferguson, Yan V. Sun, Chew-Kiat Heng, Pekka Kuukasjärvi, Mika Kähönen, Mete Civelek, Lindsey K. Stolze, S. Ram Kumar, Graciela E. Delgado, Nicholas L. Smith, Subarna Biswas, William S Schwartzman, Laurence J. Howe, Lijiang Ma, Rong Jiang, Adam W. Turner, Arshed A. Quyyumi, Terho Lehtimäki, Cardiology, Tampere University, Clinical Medicine, Department of Clinical Chemistry, TAYS Heart Centre, Department of Clinical Physiology and Nuclear Medicine, Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Genetic factors, Smooth muscle cell migration, SLC44A3, Myocardial Infarction/genetics, Context (language use), Locus (genetics), Genome-wide association study, Coronary Artery Disease, 030204 cardiovascular system & hematology, Bioinformatics, 3121 Internal medicine, Polymorphism, Single Nucleotide, Coronary artery disease, 03 medical and health sciences, 0302 clinical medicine, Japan, Risk Factors, Medicine, Humans, Genetic Predisposition to Disease, AcademicSubjects/MED00200, Myocardial infarction, Polymorphism, Coronary atherosclerosis, 030304 developmental biology, 0303 health sciences, business.industry, Coronary Artery Disease/genetics, Genetic Predisposition to Disease/genetics, Clnical Research, Endothelial Cells, medicine.disease, 3126 Surgery, anesthesiology, intensive care, radiology, Polymorphism, Single Nucleotide/genetics, 3. Good health, Coronary arteries, Meta-analysis, Editorial, medicine.anatomical_structure, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Cardiology and Cardiovascular Medicine, business, Single Nucleotide/genetics, Genome-Wide Association Study
Abstract: Aims While most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation. Methods and results We carried out a genome-wide association study for MI in the UK Biobank (n∼472 000), followed by a meta-analysis with summary statistics from the CARDIoGRAMplusC4D Consortium (n∼167 000). Multiple independent replication analyses and functional approaches were used to prioritize loci and evaluate positional candidate genes. Eight novel regions were identified for MI at the genome wide significance level, of which effect sizes at six loci were more robust for MI than for CAD without the presence of MI. Confirmatory evidence for association of a locus on chromosome 1p21.3 harbouring choline-like transporter 3 (SLC44A3) with MI in the context of CAD, but not with coronary atherosclerosis itself, was obtained in Biobank Japan (n∼165 000) and 16 independent angiography-based cohorts (n∼27 000). Follow-up analyses did not reveal association of the SLC44A3 locus with CAD risk factors, biomarkers of coagulation, other thrombotic diseases, or plasma levels of a broad array of metabolites, including choline, trimethylamine N-oxide, and betaine. However, aortic expression of SLC44A3 was increased in carriers of the MI risk allele at chromosome 1p21.3, increased in ischaemic (vs. non-diseased) coronary arteries, up-regulated in human aortic endothelial cells treated with interleukin-1β (vs. vehicle), and associated with smooth muscle cell migration in vitro. Conclusions A large-scale analysis comprising ∼831 000 subjects revealed novel genetic determinants of MI and implicated SLC44A3 in the pathophysiology of vulnerable plaques.
Published: 2021
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17. Production and genetic risk factors for cardiovascular diseases among petrochemical industry workers

Author: D. O. Karimov, Z.F. Gimaeva, A. B. Bakirov, L. K. Karimova, G F Mukhammadiyeva, and G.G. Gimranova
Subjects: Nosology, Male, History, State of health, Endocrinology, Diabetes and Metabolism, Oil and Gas Industry, lcsh:Medicine, Disease, Labor intensity, hypertonic disease, Risk Factors, cardiovascular disease, Environmental health, Occupational Exposure, Production (economics), Medicine, Humans, fitters of instrumentation and automation, Genetic risk, Workplace, harmful production factors, business.industry, lcsh:R, apparatchiks, General Medicine, petrochemical production, Occupational Diseases, Cardiovascular Diseases, Relative risk, Etiology, genetic factors, Family Practice, business
Abstract: Aim. To study the production and genetic factors affecting the cardiovascular system (CVS) in the petrochemical industry workers. Subjects and methods. There was carried out an assessment of the working conditions and the state of health of 860 workers of petrochemical plants males, including 548 apparatchiks (main group) and 312 fitters of instrumentation and automation (comparison group). The main risk factors with subsequent assessment of cardiovascular risk (SSR) on the scale SCORE (Sistematic COronary Risk Evaluation) were studied. The analysis of the frequency distribution of deletion polymorphisms of GSTM1 and GSTT1 glutathione among the workers of the basic trades involving patients with cardiovascular disease (CVD) and practically healthy workers. Results. The development and progression of CVD in petrochemical production workers affects a complex working environment hazards and the labor process, corresponding, according to R2.2.2006-05, classes, working conditions 3.1-3.3 Labor intensity. The most common form of cardiovascular nosology was hypertonic disease (HD), identified in 46,9% of apparatchiks and 29,2% of fitters of instrumentation and automation. Determination of the relative risk etiological share of the working environment factors in the development of HD showed high degree of professional conditioning of the disease in a group of apparatchiks (RR=1,58, and EF=36,7%). Molecular genetic factor predisposing to the development of CVD, is the deletion of the GSTM1 gene. This genetic marker could be used as a predictor of individual risk criterion CVD. Conclusion. A comprehensive assessment of working conditions of workers of petrochemical plants showed that the priority factors of occupational risk for apparatchiks are air pollution of the working area with harmful substances (class 3.1-3.2), noise (class 3.1) and labor intensity (class 3.1). It has been established that in the formation of cardiovascular diseases under the influence of production factors, genetic factors can participate.
Published: 2018

18. Immunogenetic Variability Associated with Different Susceptibility Patterns to Candida and Aspergillus Infections.

Author: Pana, Zoe-Dorothea, Katragkou, Aspasia, and Roilides, Emmanuel
Abstract: Fungal infections remain a serious clinical problem with a high disease and financial burden, especially among immunocompromised and critically ill patients. Numerous efforts have not fully identified clinical and laboratory risk factors for increased susceptibility to fungal infections. The recent acquisition of knowledge about innate immune responses to fungi and genetic alterations in immunologic mechanisms has revealed additional genetic risk factors and has shed more light on the predisposition of individuals to fungal infections. The aim of this review is to address the findings of recent studies associating genetic factors with susceptibility to fungal infections, focusing on the most common opportunistic fungi, Candida and Aspergillus species. [ABSTRACT FROM AUTHOR]
Published: 2011
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19. Familial autoimmunity as a risk factor for systemic lupus erythematosus and vice versa: a case–control study.

Author: Priori, R., Medda, E., Conti', F., Cassara, E.A.M., Danieli, M. G., Gerli, R., Giacomelli, R., Franceschini, F., Manfredi, A., Pietrogrande, M., Stazi, M. A., and Valesini, G.
Subjects: SYSTEMIC lupus erythematosus, AUTOIMMUNITY, DISEASE risk factors, PATIENTS, GENETIC disorders, EVALUATION
Abstract: The objective of this multicentric case-control study was to investigate if a history of autoimmune disease (AD) in first-degree relatives (FDR) is a risk factor for systemic lupus erythematosus (SLE) and to evaluate the risk of AD among FDR of SLE patients. Cases were Italian SLE patients consecutively enrolled. Controls were orthopaedic inpatients without any autoimmune diseases. The strength of the association between family history of AD and SLE was measured as an odds ratio (OR) calculated from the coefficient of an unconditional regression model. To calculate the risk of AD among FDR of SLE patients, the extended generalized estimating equation technique was used. In total, 154 SLE cases and 140 controls were enrolled. A family history of AD was reported by 22.7% of SLE patients and by 5.7% of the controls. The risk of SLE increased with the number of FDR with AD (one FDR affected, OR = 4.1; two or more, OR = 11.3) The probability of having AD was higher among FDR of SLE cases in comparison to FDR of controls (RR = 4.6; 95%CI 1.9-11.1). A female SLE patient conferred an increased risk of AD to her FDR; this risk is doubled in females (OR 10.3; 95% CI 3.1-34.4). [ABSTRACT FROM AUTHOR]
Published: 2003
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20. The association between body height and coronary heart disease among Finnish twins and singletons.

Author: Silventoinen, Karri, Kaprio, Jaakko, Koskenvuo, Markku, and Lahelma, Eero
Abstract: Objective: An inverse association between body height and the incidence of coronary heart disease (CHD) has been observed. However, the mechanisms behind this association are still largely unknown. We will examine the role of genetic and familial factors behind the association in a large twin data set.Design and Setting: The data were derived from the Finnish Twin cohort including 2438 singletons, 4073 monozygotic (MZ) twins, and 9202 dizygotic (DZ) twins aged 25-69 years at baseline in 1976. Incident CHD cases were derived from hospital discharge data and cause of death data between 1977 and 1995. Cox regression analysis and conditional logistic regression analysis were used.Results: In population-level analyses no differences in the general risk of CHD between zygosity groups were found. The association between body height and CHD was similar between sexes and zygosity groups. When men and women in all zygosity groups were studied together an increased risk of CHD was found only among the shortest quartile (hazard ratio [HR] = 1.34, 95% CI: 1.14-1.57). Among the twin pairs discordant for CHD a suggestive increased risk for the shorter twin was seen among DZ twins (odds ratio [OR] = 1.19, 95% CI: 0.95-1.48) when men and women were studied together.Conclusion: An inverse association between body height and CHD was broadly similar between sexes and twin zygosity groups and was associated with short stature. Among discordant twin pairs we found a weak association among DZ twins but not MZ twins. This may suggest the role of genetic liability behind the association between body height and CHD. [ABSTRACT FROM AUTHOR]
Published: 2003
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21. Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis

Author: Judyta K. Juranek, Jakub Juranek, Joanna Wojtkiewicz, and Natalia Nowicka
Subjects: SOD1, Disease, Review, Bioinformatics, Catalysis, Inorganic Chemistry, lcsh:Chemistry, Superoxide Dismutase-1, C9orf72, environmental factors, medicine, Animals, Humans, risk factors, Genetic Predisposition to Disease, Molecular Targeted Therapy, Physical and Theoretical Chemistry, Amyotrophic lateral sclerosis, Genetic risk, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, C9orf72 Protein, business.industry, Organic Chemistry, Amyotrophic Lateral Sclerosis, General Medicine, Genetic Therapy, medicine.disease, Computer Science Applications, Clinical trial, DNA-Binding Proteins, lcsh:Biology (General), lcsh:QD1-999, Experimental medicines, genetic factors, ALS treatment, Stem cell, ALS, business
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by a permanent degeneration of both upper and lower motor neurons. Many different genes and pathophysiological processes contribute to this disease, however its exact cause remains unclear. Therefore, it is necessary to understand this heterogeneity to find effective treatments. In this review, we focus on selected environmental and genetic risk factors predisposing to ALS and highlight emerging treatments in ALS therapy. Of numerous defective genes associated with ALS, we focus on four principal genes that have been identified as definite causes of ALS: the SOD1 gene, C9orf72, TDP-43, as well as the recently identified TBK1. We also provide up-to-date information on selected environmental factors that have historically been considered as key players in ALS development and pathogenesis. In parallel to our survey of known risk factors, we also discuss emerging ALS stem cell therapies and experimental medicines currently undergoing phase II and III clinical trials.
Published: 2019

22. The genetic and environmental etiology of child maltreatment in a parent-based extended family design

Author: Laura H C G Compier-de Block, Jolanda Lindenberg, Lenneke R. A. Alink, Marian J. Bakermans-Kranenburg, Bernet M. Elzinga, Katharina Pittner, Marinus H. van IJzendoorn, Lisa J M van den Berg, Renate S M Buisman, Vincent P. Diego, Marieke S. Tollenaar, Clinical Child and Family Studies, and Erasmus School of Social and Behavioural Sciences
Subjects: Adult, Male, Multifactorial Inheritance, SDG 16 - Peace, Poison control, Context (language use), common environmental factors, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, passive gene-environment correlation, Developmental and Educational Psychology, Cognitive development, Humans, 0501 psychology and cognitive sciences, Family, Child Abuse, Child, Socioeconomic status, Socioemotional selectivity theory, Adult Survivors of Child Abuse, 05 social sciences, Socialization, SDG 16 - Peace, Justice and Strong Institutions, Infant, Executive functions, Justice and Strong Institutions, Psychiatry and Mental health, Prosocial behavior, Physical Abuse, Child, Preschool, genetic factors, Female, Gene-Environment Interaction, Psychology, extended family design, child maltreatment, 030217 neurology & neurosurgery, 050104 developmental & child psychology
Abstract: Child maltreatment has been associated with various cumulative risk factors. However, little is known about the extent to which genetic and environmental factors contribute to individual differences between parents in perpetrating child maltreatment. To estimate the relative contribution of genetic and environmental factors to perpetrating maltreatment we used a parent-based extended family design. Child-reported perpetrated maltreatment was available for 556 parents (283 women) from 63 families. To explore reporter effects (i.e., child perspective on maltreatment), child reports were compared to multi-informant reports. Based on polygenic model analyses, most of the variance related to the perpetration of physical abuse and emotional neglect was explained by common environmental factors (physical abuse: c2 = 59%, SE = 12%, p = .006; emotional neglect: c2 = 47%, SE = 8%, p < .001) whereas genetic factors did not significantly contribute to the model. For perpetrated emotional abuse, in contrast, genetic factors did significantly contribute to perpetrated emotional abuse (h2 = 33%, SE = 8%, p < .001), whereas common environment factors did not. Multi-informant reports led to similar estimates of genetic and common environmental effects on all measures except for emotional abuse, where a multi-informant approach yielded higher estimates of the common environmental effects. Overall, estimates of unique environment, including measurement error, were lower using multi-informant reports. In conclusion, our findings suggest that genetic pathways play a significant role in perpetrating emotional abuse, while physical abuse and emotional neglect are transmitted primarily through common environmental factors. These findings imply that interventions may need to target different mechanisms dependings on maltreatment type.
Published: 2019
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23. A Case of Double Standard: Sex Differences in Multiple Sclerosis Risk Factors

Author: Rosella Mechelli, Maria Chiara Buscarinu, Benedetta Angeloni, Roberta Reniè, Giovanni Ristori, Chiara Ballerini, Carmela Romano, Gianmarco Bellucci, Rachele Bigi, Marco Salvetti, Giulia Pellicciari, Emanuele Morena, Silvia Romano, and Virginia Rinaldi
Subjects: Review, Disease, multiple sclerosis, Bioinformatics, Affect (psychology), Catalysis, lcsh:Chemistry, Inorganic Chemistry, Therapeutic approach, environmental factors, sex bias, risk factors, Medicine, Physical and Theoretical Chemistry, Risk factor, humans, lcsh:QH301-705.5, Molecular Biology, Pathological, Spectroscopy, business.industry, Multiple sclerosis, genetic factors, sex characteristics, Organic Chemistry, General Medicine, medicine.disease, Computer Science Applications, lcsh:Biology (General), lcsh:QD1-999, Double standard, business, Sex characteristics
Abstract: Multiple sclerosis is a complex, multifactorial, dysimmune disease prevalent in women. Its etiopathogenesis is extremely intricate, since each risk factor behaves as a variable that is interconnected with others. In order to understand these interactions, sex must be considered as a determining element, either in a protective or pathological sense, and not as one of many variables. In particular, sex seems to highly influence immune response at chromosomal, epigenetic, and hormonal levels. Environmental and genetic risk factors cannot be considered without sex, since sex-based immunological differences deeply affect disease onset, course, and prognosis. Understanding the mechanisms underlying sex-based differences is necessary in order to develop a more effective and personalized therapeutic approach.
Published: 2021
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24. Risk of diabetes among related and unrelated family members

Author: Lars Køber, Christian Torp-Pedersen, Peter Søgaard, Gunnar Gislason, Caroline Holm Nørgaard, Peter Weeke, Nanna Vestergaard, and Kristian Aasbjerg
Subjects: Male, Heredity, PREDICTION, Epidemiology, Endocrinology, Diabetes and Metabolism, medicine.disease_cause, MELLITUS, 0302 clinical medicine, Endocrinology, Risk Factors, 030212 general & internal medicine, Diabetes, Family aggregation, Diabetes Mellitus/etiology, General Medicine, Middle Aged, SIBLINGS, INSIGHTS, Environmental Health/methods, OBESITY, language, symbols, Female, CONCORDANCE, Environmental Health, Adult, medicine.medical_specialty, Genetic factors, Diabetes risk, 030209 endocrinology & metabolism, Danish, TYPE-2, 03 medical and health sciences, symbols.namesake, Diabetes mellitus, Diabetes Mellitus, Environmental factors, Internal Medicine, medicine, Genetic predisposition, Humans, Family, Poisson regression, Aged, business.industry, medicine.disease, language.human_language, business, Demography
Abstract: AIMS: The aim was to explore familial aggregation of diabetes in genetically related and unrelated individuals.METHODS: We included citizens from Danish nationwide registries between 1995 and 2018 and calculated rate ratios (RR) of diabetes based on family relation using Poisson regression.RESULTS: Of 7.3 million individuals eligible for inclusion, we identified 343,237 (4.7%) with diabetes. The RR of diabetes was 2.02 (95% CI: 1.99-2.05; p < 0.0001) if any relative had diabetes, 1.79 (95% CI: 1.76-1.83) if a father had diabetes, and 2.06 (95% CI: 2.02-2.10) if a mother had diabetes. If both parents had diabetes, the RR was 3.40 (95% CI: 3.24-3.56). Among full siblings, the RR for developing diabetes was 2.77 (95% CI: 2.71-2.84) and 5.76 (95% CI: 5.00-6.63) for twins. For second-degree relatives, half siblings with a common mother had a RR of 2.35 (95% CI: 2.15-2.56), and with a common father 1.99 (95% CI: 1.81-2.17). Furthermore, the RR was 1.60 (95% CI: 1.56-1.64) if a wife had diabetes, and 1.41 (95% CI: 1.38-1.44) if a husband had diabetes. A subgroup analysis of individuals receiving insulin only treatment (N = 23,054) demonstrated a similar risk pattern, although with slightly higher risk estimates.CONCLUSIONS/INTERPRETATION: Family aggregation of diabetes is associated with genetic disposition with maternal status being the predominant factor. Furthermore, we observed increased risk of diabetes in second-degree relatives, and between unrelated spouses, indicating that environmental factors influence diabetes risk substantially.
Published: 2020
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25. Pathogenesis of Tourette's Syndrome.

Author: Leckman, James F, Peterson, Bradley S., Anderson, George M., Arnsten, Amy F. T., Pauls, David L., and Cohen, Donald J.
Abstract: This review presents a model of disease pathogenesis in the context of CNS development M begins with an exploration of the clinical features and natural history of Tourette's syndrome. This is followed by a consideration of the role of genetic and non gene tic factors. An effort is then made to review the anatomical organization of the basal ganglia and related cortical sites. These circuits are intimately involved in (he normal processing of sensorimotor, cognitive, and emotionally laden information. Evidence implicating these circuits in the pathobiology of Tourette's syndrome is then considered. The review closes with the prospects for advances in interdisciplinary research and therapeutics using this model as a guide. [ABSTRACT FROM AUTHOR]
Published: 1997
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26. A Review of Risk Factors for Methamphetamine-Related Psychiatric Symptoms

Author: Xiangwen Chang, Yan Sun, Yang Zhang, Jiana Muhai, Lin Lu, and Jie Shi
Subjects: methamphetamine-related psychiatric symptoms (MAP), medicine.medical_specialty, lcsh:RC435-571, Population, methamphetamine use related factors, Poison control, Review, PsycINFO, Suicide prevention, Occupational safety and health, assessment instruments, lcsh:Psychiatry, Injury prevention, medicine, risk factors, Risk factor, Psychiatry, education, education.field_of_study, business.industry, Human factors and ergonomics, socio-demographic variables and life events, Psychiatry and Mental health, methamphetamine (MA), genetic factors, business
Abstract: The illegal use of methamphetamine (MA) is a growing public health concern globally and results in a series of negative effects. The prominent detrimental effect of MA use is MA-related psychiatric symptoms (MAP) and is observed at a much higher incidence compared to the general population. MAP often includes multiple dimensions of cognitive impairment and induces adverse consequences such as, violence and suicide. However, the assessment methods for MAP are not standardized. Hence, it is necessary to investigate factors that affect the progression of psychiatric symptoms in individuals who use MA. A review of published studies was performed by searching the following databases: PubMed, EMBASE, and PsycINFO from inception to 31 May, 2018. The search strategy included methamphetamine, dependence, psychiatric symptoms, and risk factor terms. We reviewed the different features of MAP and the various types of assessment instruments and summarized MAP risk factors from MA use-related factors, socio-demographic characteristics, life events, and genetic factors. We found that MAP was consistently and causally associated with MA use, particularly as it relates to the frequency and amount of MA use. Other MAP-related risk factors like life events and genetics were relatively inconsistent in their association with MAP. Hence, causal and longitudinal studies that focus on multilateral comparisons are required. This review provides high quality evidence for MAP risk factors and would be helpful for developing early prevention and treatment strategies for MAP.
Published: 2018
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27. Analysis of shared heritability in common disorders of the brain

Author: Brainstorm Consortium, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John SK, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias, Ligthart, Lannie, Terwindt, Gisela M, Freilinger, Tobias, Ran, Caroline, Gordon, Scott D, Borck, Guntram, Adams, Hieab HH, Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E, Schürks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D, Belin, Andrea C, Van Den Maagdenberg, Arn MJM, Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell J, Catarino, Claudia B, Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N, French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer, Kälviäinen, Reetta, Kunz, Wolfram S, Lerche, Holger, Leu, Costin, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Møller, Rikke S, Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M, Smith, Philip, Sperling, Michael, Striano, Pasquale, Surges, Rainer, Thomas, G Neil, Visscher, Frank, Whelan, Christopher D, Zara, Federico, Heinzen, Erin L, Marson, Anthony, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter, Martinez, Maria, Morris, Huw R, Sharma, Manu, Ryten, Mina, Mok, Kin Y, Pulit, Sara, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, Boncoraglio, Giorgio, Thijs, Vincent, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie, Vicente, Astrid, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Boraska Perica, Vesna, Thornton, Laura M, Huckins, Laura M, William Rayner, N, Lewis, Cathryn M, Gratacos, Monica, Rybakowski, Filip, Keski-Rahkonen, Anna, Raevuori, Anu, Hudson, James I, Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H, O'Toole, Julie K, Trace, Sara E, Davis, Oliver SP, Helder, Sietske G, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N, Van Elburg, Annemarie A, Clementi, Maurizio, Forzan, Monica, Docampo, Elisa, Lissowska, Jolanta, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah, Herms, Stefan, Julià, Antonio, Rabionet, Raquel, Dick, Danielle M, Ripatti, Samuli, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri J, Steen, Vidar M, Pinto, Dalila, Scherer, Stephen W, Aschauer, Harald, Schosser, Alexandra, Alfredsson, Lars, Padyukov, Leonid, Halmi, Katherine A, Mitchell, James, Strober, Michael, Bergen, Andrew W, Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru, Ramos-Quiroga, Josep Antoni, Sánchez-Mora, Cristina, Ribasés, Marta, Casas, Miguel, Hervas, Amaia, Arranz, Maria Jesús, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan, Williams, Nigel, Dempfle, Astrid, Rothenberger, Aribert, Kuntsi, Jonna, Oades, Robert D, Banaschewski, Tobias, Franke, Barbara, Buitelaar, Jan K, Arias Vasquez, Alejandro, Doyle, Alysa E, Reif, Andreas, Lesch, Klaus-Peter, Freitag, Christine, Rivero, Olga, Palmason, Haukur, Romanos, Marcel, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H, Dalsgaard, Soeren, Børglum, Anders D, Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton HD, Crosbie, Jennifer, Schachar, Russell, Loo, Sandra K, McGough, James J, Grevet, Eugenio H, Medland, Sarah E, Robinson, Elise, Weiss, Lauren A, Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino, Betancur, Catalina, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patrícia, Dawson, Geraldine, De Rubeis, Silvia, Duque, Frederico, Green, Andrew, Klauck, Sabine M, Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, De-Luca, Daniel Moreno, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven, Vorstman, Jacob, Wassink, Thomas, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard, Rogé, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G, Thompson, Robert C, Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E, Schalling, Martin, Jamain, Stéphane, Maaser, Anna, Fischer, Sascha B, Reinbold, Céline S, Fullerton, Janice M, Guzman-Parra, José, Mayoral, Fermin, Schofield, Peter R, Cichon, Sven, Mühleisen, Thomas W, Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B, Gershon, Elliot S, Rice, John, Potash, James B, Zandi, Peter P, Craddock, Nick, Ferrier, I Nicol, Alda, Martin, Rouleau, Guy A, Turecki, Gustavo, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M, Cruceanu, Cristiana, Jones, Ian R, Posthuma, Danielle, Andlauer, Till FM, Forstner, Andreas J, Streit, Fabian, Baune, Bernhard T, Air, Tracy, Sinnamon, Grant, Wray, Naomi R, MacIntyre, Donald J, Porteous, David, Homuth, Georg, Rivera, Margarita, Grove, Jakob, Middeldorp, Christel M, Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H, Jansen, Rick, De Geus, Eco, Dunn, Erin, Li, Qingqin S, Nauck, Matthias, Schoevers, Robert A, Beekman, Aartjan Tf, Knowles, James A, Viktorin, Alexander, Arnold, Paul, Barr, Cathy L, Bedoya-Berrio, Gabriel, Bienvenu, O Joseph, Brentani, Helena, Burton, Christie, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M, Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn, Freimer, Nelson, Gerber, Gloria, Grados, Marco, Greenberg, Erica, Hanna, Gregory L, Hartmann, Andreas, Hirschtritt, Matthew E, Hoekstra, Pieter J, Huang, Alden, Huyser, Chaim, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J, Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A, Maras, Athanasios, McGrath, Lauren, Miguel, Eurípedes C, Mir, Pablo, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S, Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M, Reus, Victor, Richter, Margaret A, Riddle, Mark A, Robertson, Mary M, Roessner, Veit, Rosário, Maria, Samuels, Jack F, Sandor, Paul, Stein, Dan J, Tsetsos, Fotis, Van Nieuwerburgh, Filip, Weatherall, Sarah, Wendland, Jens R, Wolanczyk, Tomasz, Worbe, Yulia, Zai, Gwyneth, Goes, Fernando S, McLaughlin, Nicole, Nestadt, Paul S, Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria, Valencia-Duarte, Ana, Bramon, Elvira, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray, Chong, Siow A, Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kučinskas, Vaidutis, Lee Chee Keong, Jimmy, Limborska, Svetlana, Loughland, Carmel, Lönnqvist, Jouko, Maher, Brion, Mattheisen, Manuel, McDonald, Colm, Murphy, Kieran C, Nenadic, Igor, Van Os, Jim, Pantelis, Christos, Pato, Michele, Petryshen, Tracey, Quested, Digby, Roussos, Panos, Sanders, Alan R, Schall, Ulrich, Schwab, Sibylle G, Sim, Kang, So, Hon-Cheong, Stögmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V, Henskens, Frans, Mattingsdal, Morten, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M, Daly, Mark, Dichgans, Martin, Faraone, Stephen V, Guerreiro, Rita, Holmans, Peter, Kendler, Kenneth S, Koeleman, Bobby, Mathews, Carol A, Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie, Wood, Nicholas W, Cotsapas, Chris, Palotie, Aarno, Smoller, Jordan W, Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden, Neale, Benjamin M, Schott, Jonathan M, Anney, Richard, Elia, Josephine, Grigoroiu-Serbanescu, Maria, Edenberg, Howard J, Murray, Robin, Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], UK Dementia Research Institute (UK DRI), University College of London [London] (UCL), School of Psychology [Cardiff University], Cardiff University, Institute for Stroke and Dementia Research (ISD), Klinikum der Universität [München]-Ludwig Maximilian University [Munich] (LMU), New Jersey Institute of Technology [Newark] (NJIT), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), RIKEN Center for Integrative Medical Sciences [Yokohama] (RIKEN IMS), RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratoire de Biotechnologie et Microbiologie Appliquée (LBMA), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Gériatrie générale et aigüe [Paris], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Columbia University [New York], Dpt of Neuroscience [New York], Icahn School of Medicine at Mount Sinai [New York] (MSSM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Washington [Seattle], Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Children’s Hospital of Philadelphia (CHOP ), University of Kentucky (UK), School of medicine, Duke University [Durham], College of medicine, Brigham Young University (BYU), Oregon Health and Science University [Portland] (OHSU), Cleveland Clinic, Department of Neurology, Emory University [Atlanta, GA], Medical School, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Health sciences center, The University of New Mexico [Albuquerque], Institute for Memory Impairments and Neurological Disorders [Irvine], University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Keck School of Medicine [Los Angeles], University of Southern California (USC), University of South Florida [Tampa] (USF), University of Utah School of Medicine [Salt Lake City], Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Perelman School of Medicine, University of Pennsylvania, Dublin City University [Dublin] (DCU), Functional Genomics Center Zurich, Universität Zürich [Zürich] = University of Zurich (UZH)- Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Cambridge Institute for Medical Research (CIMR), University of Cambridge [UK] (CAM), Aristotle University of Thessaloniki, Maurice Wohl Clinical Neuroscience Institut, King‘s College London, Dementia Research Centre [London] (DRC), Groupe de recherche clinique Alzheimer Precision Medicine (GRC 21 - APM), Sorbonne Université (SU), MRC Centre for Neuropsychiatric Genetics and Genomics, Medical Research Council-Cardiff University, MRC Prion Unit [London], Queen's University [Belfast] (QUB), School of Life Sciences, University of Nottingham, UK (UON), Rheinische Friedrich-Wilhelms-Universität Bonn, Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), QIMR Berghofer Medical Research Institute, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), School of Medicine [Dublin], Trinity College Dublin, Department of Medicine, University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), School of Public Health [Boston], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Columbia University Medical Center (CUMC), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), Saarland University [Saarbrücken], Universität Leipzig, School of Medicine [Los Angeles], Johannes Kepler Universität Linz - Johannes Kepler University Linz [Autriche] (JKU), Department of Neurology [Boston], Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], School of Medecine, Washington University in Saint Louis (WUSTL), Oslo University Hospital [Oslo], Institute for Molecular Medicine Finland [Helsinki] (FIMM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, 23andMe Inc., Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Department of Biological Psychology [Amsterdam], Vrije Universiteit Amsterdam [Amsterdam] (VU), Leiden University Medical Center (LUMC), Universiteit Leiden, University-Hospital Munich-Großhadern [München], Karolinska Institutet [Stockholm], Universität Ulm - Ulm University [Ulm, Allemagne], Faculty of Medicine and Life Sciences [Tampere], University of Tampere [Finland], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Landspitali National University Hospital of Iceland, VU University Medical Center [Amsterdam], Boston VA Research Institute (BVARI), Department of Physiology, Anatomy and Genetics [Oxford], University of Oxford, Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Christian-Albrechts-Universität zu Kiel (CAU), Institute of Clinical Molecular Biology, Kiel University, National Institute for Health and Welfare [Helsinki], Harvard T.H. Chan School of Public Health, Universitat Autònoma de Barcelona (UAB), Vall d'Hebron University Hospital [Barcelona], University of Tartu, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Center for Human and Clinical Genetics, Universiteit Leiden-Universiteit Leiden, University of Copenhagen = Københavns Universitet (UCPH), Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology [Brisbane] (QUT), Discipline of Psychiatry [Dublin], Trinity College Dublin-Trinity College Dublin, Institute of Neurology [London], The University of Hong Kong (HKU), University of Melbourne, Cooper Medical School of Rowan University [Camden] (CMSRU), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM), University of Antwerp (UA), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), New York University School of Medicine (NYU), New York University School of Medicine, NYU System (NYU)-NYU System (NYU), University of Eastern Finland, Universitätsklinikum Bonn (UKB), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, University Medical Center [Utrecht], Ohio State University [Columbus] (OSU), University of California [San Francisco] (UC San Francisco), University of California (UC), Royal College of Surgeons in Ireland (RCSI), University of Southern Denmark (SDU), United Christian Hospital [Hong Kong] (UCH), University of Cincinnati (UC), University of Cologne, Inselspital Bern, University of Wales, Jefferson University Hospitals, University of Liverpool, Medizinische Universität Wien = Medical University of Vienna, National Institutes of Health [Bethesda] (NIH), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Institut de Recherche en Santé Digestive (IRSD ), Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Lincoln, University of Newcastle [Callaghan, Australia] (UoN), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Virginia, University of Maryland [Baltimore County] (UMBC), University of Maryland System, Royal Holloway [University of London] (RHUL), University of Edinburgh, Universidade de Lisboa = University of Lisbon (ULISBOA), Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), University of Split, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), McLean Hospital [Belmont, Ma.], Norwegian Institute of Public Health [Oslo] (NIPH), Università degli Studi di Salerno = University of Salerno (UNISA), University of Bristol [Bristol], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Utrecht University [Utrecht], Azienda Ospedaliera di Padova, Université de Liège, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology (MCMCC), Università degli Studi di Perugia = University of Perugia (UNIPG), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, National and Kapodistrian University of Athens (NKUA), Charles University [Prague] (CU), SURFACES, Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Flinders University [Adelaide, Australia], Virginia Commonwealth University (VCU), University of Oslo (UiO), University of Bergen (UiB), Weill Medical College of Cornell University [New York], University of North Dakota [Grand Forks] (UND), Oregon Research Institute (ORI), University of California [San Diego] (UC San Diego), Universitat de Barcelona (UB), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Hospital Universitario Mutua de Terrassa, School of Computer Science and Communication [Stockholm], Royal Institute of Technology [Stockholm] (KTH ), Jefferson (Philadelphia University + Thomas Jefferson University), University Medical Center Göttingen (UMG), Universität Heidelberg [Heidelberg] = Heidelberg University, Radboud University Medical Center [Nijmegen], Universitätsklinikum Frankfurt, Maastricht University [Maastricht], Institute of Psychological Medicine and Clinical Neurosciences, Aarhus University [Aarhus], University of Iowa [Iowa City], Universidade Federal do Rio Grande do Sul [Porto Alegre] (UFRGS), The Hospital for sick children [Toronto] (SickKids), Hospital de Clínicas de Porto Alegre (HCPA), Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), University of British Columbia (UBC), IRCCS Fondazione Stella Maris [Pisa], Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidade de Coimbra [Coimbra], Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Our Lady's Children's Hospital Crumlin (OLCHC), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Children’s Hospital Los Angeles [Los Angeles], Yale University [New Haven], Brown University, Institute of Neuroscience [Newcastle] (ION), Newcastle University [Newcastle], Department of Medical Epidemiology and Biostatistics (MEB), Division of Medical Genetics [Seattle], University of Illinois [Chicago] (UIC), University of Illinois System, Maine Medical Center Research Institute (MMCRI), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Centre d’Etudes et de Recherches en Psychopathologie et Psychologie de la Santé (CERPPS), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Toulouse Mind & Brain Institut (TMBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Johns Hopkins University School of Medicine [Baltimore], Ludwig Maximilian University [Munich] (LMU), University of Michigan System, Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg] = Heidelberg University-Central Institute of Mental Health Mannheim, University of Dundee, National University of Ireland [Galway] (NUI Galway), University Hospital Basel [Basel], Neuroscience Research Australia (NeuRA), Forschungszentrum Jülich GmbH | Centre de recherche de Juliers, Helmholtz-Gemeinschaft = Helmholtz Association, UNSW Faculty of Medicine [Sydney], University of New South Wales [Sydney] (UNSW), University of Chicago, Johns Hopkins University (JHU), Johns Hopkins Bloomberg School of Public Health [Baltimore], Dalhousie University [Halifax], Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], State University of New York (SUNY), University Hospital of Cologne [Cologne], University of Adelaide, James Cook University (JCU), Institute for Molecular Bioscience, University of Queensland [Brisbane], Greifswald University Hospital, The University of Sydney, University Medical Center Groningen [Groningen] (UMCG), University of Calgary, University Health Network, Universidad de Antioquia = University of Antioquia [Medellín, Colombia], Universidade de São Paulo = University of São Paulo (USP), Ospedale San Raffaele, University of Amsterdam [Amsterdam] (UvA), University of Groningen [Groningen], Yale School of Medicine [New Haven, Connecticut] (YSM), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Cape Town, Cold Spring Harbor Laboratory (CSHL), Universidad de Sevilla / University of Sevilla, University of Florida [Gainesville] (UF), University of Denver, Purdue University [West Lafayette], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Moscow Institute of Physics and Technology [Moscow] (MIPT), Sunnybrook Health Sciences Centre, Federal Institute of São Paulo (IFSP), Democritus University of Thrace (DUTH), Universiteit Gent = Ghent University (UGENT), Medical University of Warsaw - Poland, Sorbonne Université - Faculté de Médecine - Département d'Enseignement et de Recherche en Médecine Générale, Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], Institute of Mental Health [Singapore], Universidad de Cantabria [Santander], Tel Aviv University (TAU), University College Cork (UCC), University of Rochester [USA], Statens Serum Institut [Copenhagen], Софийски университет = Sofia University, Russian Academy of Sciences [Moscow] (RAS), Latvian Biomedical Research and Study Centre [Rīga], Vilnius University [Vilnius], Nanyang Technological University [Singapour], Department of Life Sciences, Imperial College London, Jena University Hospital [Jena], Oxford University Hospitals NHS Trust, Schizophrenia Research Institute [Sydney], Faculty of Science, Medicine and Health [Wollongong], University of Wollongong [Australia], City University of Hong Kong [Hong Kong] (CUHK), Lawrence Berkeley National Laboratory [Berkeley] (LBNL), This work was supported by grants 1R01MH10764901 and 5U01MH09443203 from the National Institute of Mental Health, as well as the Orion Farmos Research Foundation (V.A.) and the Fannie and John Hertz Foundation (H.K.F.). Consortium specific funding is detailed in the supplementary materials ('Study-specific acknowledgments')., Brainstorm Consortium, University of Kentucky, University of California [Irvine] (UCI), University of California-University of California, University of Pennsylvania [Philadelphia], Alzheimer Precision Medicine [CHU Pitié-Salpétriêre] (GRC 21 AMP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universität Leipzig [Leipzig], Johannes Kepler University Linz [Linz] (JKU), University of Helsinki-University of Helsinki, University of Helsinki, University of Oxford [Oxford], University of Copenhagen = Københavns Universitet (KU), University of California [San Francisco] (UCSF), University of California, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Newcastle [Australia] (UoN), University of Virginia [Charlottesville], Universidade de Lisboa (ULISBOA), Università degli Studi di Salerno (UNISA), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Università degli Studi di Perugia (UNIPG), Università degli studi della Campania 'Luigi Vanvitelli', Universität Heidelberg [Heidelberg], Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, VU University Amsterdam, Universidade de São Paulo (USP), Yale University School of Medicine, Universidad de Sevilla, Universiteit Gent = Ghent University [Belgium] (UGENT), Service de Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière] (SPEA), Tel Aviv University [Tel Aviv], University of Sofia, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-Françoi, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Ilyas Kamboh, M., Larson, Eric B., Rogaeva, Ekaterina, George-Hyslop, Peter St, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Yesim Demirci, F., Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S.K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M., Rossor, Martin, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johanne, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthia, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlo, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nichola, Kurth, Tobia, Ligthart, Lannie, Terwindt, Gisela M., Freilinger, Tobia, Ran, Caroline, Gordon, Scott D., Borck, Guntram, Adams, Hieab H.H., Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E., Schürks, Marku, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfon, Pozo-Rosich, Patricia, Hansen, Thoma, Werge, Thoma, Kaprio, Jaakko, Metspalu, Andre, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Van Den Maagdenberg, Arn M. 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Duque, F, Green, A, Klauck, S, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, T, Thompson, R, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, Mcintosh, A, Bergen, S, Schalling, M, Jamain, S, Maaser, A, Fischer, S, Reinbold, C, Fullerton, J, Guzman-Parra, J, Mayoral, F, Schofield, P, Cichon, S, Mühleisen, T, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, P, Gershon, E, Rice, J, Potash, J, Zandi, P, Craddock, N, Nicol Ferrier, I, Alda, M, Rouleau, G, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, P, Cruceanu, C, Jones, I, Posthuma, D, Andlauer, T, Forstner, A, Streit, F, Baune, B, Air, T, Sinnamon, G, Wray, N, Macintyre, D, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, C, Hickie, I, Pergadia, M, Mehta, D, Smit, J, Jansen, R, De Geus, E, Dunn, E, Li, Q, Nauck, M, Schoevers, R, Beekman, A, Knowles, J, Viktorin, A, Arnold, P, Barr, C, Bedoya-Berrio, G, Joseph Bienvenu, O, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, E, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, G, Hartmann, A, Hirschtritt, M, Hoekstra, P, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, G, Macciardi, F, Madruga-Garrido, M, Malaty, I, Maras, A, Mcgrath, L, Miguel, E, Mir, P, Nestadt, G, Nicolini, H, Okun, M, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, E, Reus, V, Richter, M, Riddle, M, Robertson, M, Roessner, V, Rosário, M, Samuels, J, Sandor, P, Stein, D, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, J, Wolanczyk, T, Worbe, Y, Zai, G, Goes, F, Mclaughlin, N, Nestadt, P, Grabe, H, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, S, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, Mcdonald, C, Murphy, K, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, A, Schall, U, Schwab, S, Sim, K, So, H, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, P, Henskens, F, Mattingsdal, M, Oh, S, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, C, Daly, M, Dichgans, M, Faraone, S, Guerreiro, R, Holmans, P, Kendler, K, Koeleman, B, Mathews, C, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, N, Cotsapas, C, Palotie, A, Smoller, J, Sullivan, P, Rosand, J, Corvin, A, Neale, B, Kauwe, John S. K., Mcquillin, Andrew, Adams, Hieab H. H., Mccormack, Mark, Bau, Claiton H. D., Mcgough, James J., Mcintosh, Andrew, Andlauer, Till F. M., Macintyre, Donald J., Mcgrath, Lauren, Mclaughlin, Nicole, Delisi, Lynn, Mcdonald, Colm, Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement (Inserm U1167 - RID-AGE - Institut Pasteur), RIKEN Center for Integrative Medical Science, Neuropsychiatrie : recherche épidémiologique et clinique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), University of South Florida (USF), University of Zürich [Zürich] (UZH)-Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology in Zürich [Zürich] (ETH Zürich), Alzheimer Precision Medicine GRC n°21 (APM), CHU Pitié-Salpêtrière [APHP], Cardiff University-Medical Research Council, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Johannes Kepler University Linz [linz] (JKU), Washington University in St Louis, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Universitat Autònoma de Barcelona [Barcelona] (UAB), Hôpital Erasme (Bruxelles), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Jagiellonian University [Krakow] (UJ), Technische Universität Dresden (TUD), National and Kapodistrian University of Athens = University of Athens (NKUA | UoA), Charles University [Prague], Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), University of Bergen (UIB), University Medicine Goettingen, Università di Bologna [Bologna] (UNIBO), Forschungszentrum Jülich GmbH, UNSW Medicine [Sydney], McGill University, Universidad de Antioquia, University of Florida [Gainesville], Universiteit Gent [Ghent], Service Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], University of Wollongong, Alzheimer Precision Medicine [CHU Pitié-Salpétriêre] (GRC 21 APM), Anttila, Verneri [0000-0002-0073-4675], Finucane, Hilary K [0000-0003-3864-9828], Walters, Raymond K [0000-0001-8422-6530], Duncan, Laramie [0000-0003-1131-661X], Escott-Price, Valentina [0000-0003-1784-5483], Falcone, Guido J [0000-0002-6407-0302], Gormley, Padhraig [0000-0002-8908-6968], Malik, Rainer [0000-0001-9212-2520], Ripke, Stephan [0000-0003-3622-835X], Wei, Zhi [0000-0001-6059-4267], Yu, Dongmei [0000-0001-7901-4365], Lee, Phil H [0000-0003-1770-3100], Breen, Gerome [0000-0003-2053-1792], Bulik, Cynthia M [0000-0001-7772-3264], Daly, Mark [0000-0002-0949-8752], Dichgans, Martin [0000-0002-0654-387X], Faraone, Stephen V [0000-0002-9217-3982], Holmans, Peter [0000-0003-0870-9412], Koeleman, Bobby [0000-0001-7749-182X], Mathews, Carol A [0000-0003-2208-7058], Sklar, Pamela [0000-0001-9715-4943], Williams, Julie [0000-0002-4069-0259], Wood, Nicholas W [0000-0002-9500-3348], Cotsapas, Chris [0000-0002-7772-5910], Smoller, Jordan W [0000-0002-0381-6334], Sullivan, Patrick [0000-0002-6619-873X], Rosand, Jonathan [0000-0002-1014-9138], Corvin, Aiden [0000-0001-6717-4089], Neale, Benjamin M [0000-0003-1513-6077], and Apollo - University of Cambridge Repository
Subjects: Etiology, [SDV]Life Sciences [q-bio], MESH: Brain Diseases, body-mass index, genetics [Mental Disorders], Disorders of the Brain, Risks factors, classification [Mental Disorders], MESH: Quantitative Trait, Heritable, MESH: Risk Factors, Risk Factors, MESH: Genetic Variation, alzheimers-disease, 610 Medicine & health, bipolar disorder, Brain Diseases, deficit hyperactivity disorder, Multidisciplinary, Mental Disorders, genetics [Brain Diseases], Brain Disease, Brain, Genetic Variation, Genome-Wide Association Study, Humans, Phenotype, Quantitative Trait, Heritable, Psychiatric Disorders, anorexia-nervosa, Mental Disorder, Psychiatric Genomics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], long-term survival, Engineering sciences. Technology, Human, General Science & Technology, population-based twin, diagnosis [Mental Disorders], MESH: Phenotype, Neurological Disorders, Quantitative Trait, MD Multidisciplinary, MESH: Mental Disorders, diagnosis [Brain Diseases], Heritable, genetic correlations, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, major depressive disorder, Risk Factor, Brain Diseases/classification, Brain Diseases/diagnosis, Brain Diseases/genetics, Mental Disorders/classification, Mental Disorders/diagnosis, Mental Disorders/genetics, classification [Brain Diseases], Perturbações do Desenvolvimento Infantil e Saúde Mental, ddc:320, MESH: Genome-Wide Association Study, genome-wide association, Brainstorm Consortium, Genetic Factors, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities’ assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer’s disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important “scaffolding” to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders.
Published: 2018
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28. Epidemiology and Risk Factors of Uterine Fibroids

Author: Flavia Sorbi, Massimiliano Fambrini, Dora Pavone, Sara Clemenza, and Felice Petraglia
Subjects: medicine.medical_specialty, Uterine fibroids, Physical activity, Epidemiology, Genetic factors, Lifestyle, Reproductive history, Risk factor, Obstetrics and Gynecology, Black People, White People, 03 medical and health sciences, 0302 clinical medicine, Uterine infection, Obstetrics and gynaecology, Risk Factors, Prevalence, Medicine, Humans, 030212 general & internal medicine, Gynecology, 030219 obstetrics & reproductive medicine, Leiomyoma, business.industry, Obstetrics, Age Factors, General Medicine, medicine.disease, Obesity, female genital diseases and pregnancy complications, Uterine Neoplasms, Female, business, Alcohol consumption
Abstract: Risk factors, both modifiable and non-modifiable, are associated with the development of fibroids. These include age, race, endogenous and exogenous hormonal factors, obesity, uterine infection, and lifestyle (diet, caffeine and alcohol consumption, physical activity, stress, and smoking). Some of the epidemiological data were conflicting; consequently, further studies are needed to better understand the factors that influence fibroid prevalence.
Published: 2017

29. Cytokine Gene Polymorphisms Associate with Microbiogical Agents in Periodontal Disease: Our Experience

Author: Francesco Inchingolo, Andrea Ballini, Gianna Dipalma, Salvatore Scacco, Maria Franca Coscia, Danila De Vito, Francesco Papa, Stefania Cantore, and Rosanna Mirgaldi
Subjects: Adult, Male, Genetic factors, Genotype, medicine.medical_treatment, Interleukin-1beta, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Severe periodontitis, Risk Factors, Interleukin-1alpha, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, Periodontal Diseases, Periodontitis, Single nucleotide polymorphisms, General Medicine, medicine.disease, Oral Microbiology, Cytokine, Case-Control Studies, Oral microbiology, Immunology, Population study, Female, Periodontal disease, Research Paper, Interleukin-1
Abstract: Periodontics has evolved from a simplistic model to a more complex interplay between infection and host response. Genetic factors have been a new addition to the list of risk factors for periodontal diseases. The processes leading to destruction and regeneration of the destroyed tissues are of great interest to both researchers and clinicians. The selective susceptibility of subjects for periodontitis has remained an enigma and wide varieties of risk factors have been implicated for the manifestation and progression of periodontitis. Emerging pathway models suggest that gene-environment interactions are etiologically important in disease pathogenesis. The current practical utility of genetic knowledge in periodontitis is limited. Allelic variants at multiple gene loci probably influence periodontitis susceptibility. The pro-inflammatory cytokine interleukin-1 (IL-1) is a key modulator of host responses to microbial infection and a major modulator of extracellular matrix catabolism and bone resorption, and polymorphisms in the IL-1 gene cluster have been associated with an increased risk of developing severe adult periodontitis. The aim of this study was to test if polymorphisms of genes of IL-1α+4845 and IL-1β +3954 were linked with periodontitis, in a case-control study population, delimited to a specific geographic area, in association with microbiological findings. The polymorphisms observed in IL-1α+4845 and IL-1β+3954 single nucleotide polymorphisms (SNPs), was significantly different among the study groups (healthy controls, mild, moderate and severe periodontitis with p
Published: 2014
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30. Candidate gene study reveals DRD1 and DRD2 as putative interacting risk factors for youth depression

Author: Patricia Cuenca, Arcadi Navarro, Domingo Campos, Eyleen Corrales, Consejo Superior de Investigaciones Científicas (España), and Universidad de Costa Rica
Subjects: 0301 basic medicine, Costa Rica, Male, Candidate gene, Serotonin, Genetic factors, Adolescent, Genotype, Dopamine, Single-nucleotide polymorphism, Serotonergic, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Dopamine receptor D1, Human genetics, Risk Factors, Dopamine receptor D2, Monoaminergic, Humans, Child, Biological Psychiatry, Genetic Association Studies, Genetics, Depression, Receptors, Dopamine D2, Receptors, Dopamine D1, Dopaminergic, Genetic Variation, Epistasis, Genetic, Depressive symptom, Psychiatry and Mental health, 030104 developmental biology, Haplotypes, Dopamine receptor, Heteromers, Epistasis, Female, Psychology, 572.8 Genética bioquímica, 030217 neurology & neurosurgery, Receptor
Abstract: Alterations in the monoaminergic neurotransmission systems are suspected to be involved in the etiology of neuropsychiatric disorders, including depression. The role of these pathways in the risk of developing depressive symptoms during childhood or adolescence is still not completely clear. This study sought to identify putative genetic factors in genes of serotonergic and dopaminergic systems modulating the level of manifestation of depressive symptoms in children and adolescents. We analyzed 170 single nucleotide polymorphisms (SNPs) in 21 candidate dopaminergic and serotonergic genes in a non-clinical sample of 410 Costa Rican participants of ages between 7 and 18 years, assessing the severity of depressive symptoms through the Child Depression Inventory (CDI). Genotypic and haplotypic associations, as well as epistatic effects, were examined. A significant interaction effect was detected between rs1039089 in conjunction with rs877138 located upstream of the dopamine D1 receptor (DRD1) and the dopamine D2 receptor (DRD2) genes respectively, although no evidence was found for any single variant or haplotype related to a differential liability. This newly described genetic interaction among putative regulatory regions of dopamine receptors could affect the level of manifestation of depressive symptoms through an imbalance of D1-D2 heteromers and modulation of cognitive processes., This research was funded by CSIC-CRUSA and University of Costa Rica (project 723-B0-329).
Published: 2016

31. Genetic and Environmental Determinants of Stress Responding

Author: Tk, Clarke, Charlotte Nymberg, and Schumann G
Subjects: alcohol use and abuse, corticotropin-releasing factor system, human studies, alcoholism, literature review, brain, Dopamine, neurobiology, Alcohol dependence, Articles, stress response, Social Environment, animal studies, stress, biological development, environmental factors, Risk Factors, genetic factors, Animals, Humans, Gene-Environment Interaction, alcohol and other drug use initiation, hypothalamic–pituitary–adrenal axis, Stress, Psychological
Abstract: The risk for alcohol dependence throughout development is determined by both genetic and environmental factors. Genetic factors that are thought to modulate this risk act on neurobiological pathways regulating reward, impulsivity, and stress responses. For example, genetic variations in pathways using the brain signaling molecule (i.e., neurotransmitter) dopamine, which likely mediate alcohol's rewarding effects, and in two hormonal systems involved in the stress response (i.e., the hypothalamic-pituitary-adrenal axis and the corticotropin-releasing factor system) affect alcoholism risk. This liability is modified further by exposure to environmental risk factors, such as environmental stress and alcohol use itself, and the effects of these factors may be enhanced in genetically vulnerable individuals. The transition from alcohol use to dependence is the result of complex interactions of genes, environment, and neurobiology, which fluctuate throughout development. Therefore, the relevant genetic and environmental risk factors may differ during the different stages of alcohol initiation, abuse, and dependence. The complex interaction of these factors is yet to be fully elucidated, and translational studies, ranging from animal studies to research in humans, and well-characterized longitudinal studies are necessary to further understand the development of alcohol dependence.
Published: 2012

32. Genes Encoding Enzymes Involved in Ethanol Metabolism

Author: Hurley, Thomas D. and Edenberg, Howard J.
Subjects: alcoholism, Ethanol, alcohol dependence, enzymes, Alcohol Dehydrogenase, Articles, DNA, single nucleotide polymorphisms (SNPs), Acetaldehyde, aldehyde dehydrogenase (ALDH), Aldehyde Dehydrogenase, ethanol metabolism, genetic factors, protective factors, risk factors, Humans, Alcohol consumption, genetics, alcohol dehydrogenase (ADH), genetic variance, esophageal cancer
Abstract: The effects of beverage alcohol (ethanol) on the body are determined largely by the rate at which it and its main breakdown product, acetaldehyde, are metabolized after consumption. The main metabolic pathway for ethanol involves the enzymes alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Seven different ADHs and three different ALDHs that metabolize ethanol have been identified. The genes encoding these enzymes exist in different variants (i.e., alleles), many of which differ by a single DNA building block (i.e., single nucleotide polymorphisms [SNPs]). Some of these SNPs result in enzymes with altered kinetic properties. For example, certain ADH1B and ADH1C variants that are commonly found in East Asian populations lead to more rapid ethanol breakdown and acetaldehyde accumulation in the body. Because acetaldehyde has harmful effects on the body, people carrying these alleles are less likely to drink and have a lower risk of alcohol dependence. Likewise, an ALDH2 variant with reduced activity results in acetaldehyde buildup and also has a protective effect against alcoholism. In addition to affecting drinking behaviors and risk for alcoholism, ADH and ALDH alleles impact the risk for esophageal cancer.
Published: 2012

33. Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis.

Author: Nowicka, Natalia, Juranek, Jakub, Juranek, Judyta K., and Wojtkiewicz, Joanna
Subjects: AMYOTROPHIC lateral sclerosis, DISEASE risk factors, EXPERIMENTAL medicine, STEM cell treatment, THERAPEUTICS, MOTOR neurons
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by a permanent degeneration of both upper and lower motor neurons. Many different genes and pathophysiological processes contribute to this disease, however its exact cause remains unclear. Therefore, it is necessary to understand this heterogeneity to find effective treatments. In this review, we focus on selected environmental and genetic risk factors predisposing to ALS and highlight emerging treatments in ALS therapy. Of numerous defective genes associated with ALS, we focus on four principal genes that have been identified as definite causes of ALS: the SOD1 gene, C9orf72, TDP-43, as well as the recently identified TBK1. We also provide up-to-date information on selected environmental factors that have historically been considered as key players in ALS development and pathogenesis. In parallel to our survey of known risk factors, we also discuss emerging ALS stem cell therapies and experimental medicines currently undergoing phase II and III clinical trials. [ABSTRACT FROM AUTHOR]
Published: 2019
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34. Heritability of Hepatic Fibrosis and Steatosis Based on a Prospective Twin Study

Author: Loomba, Rohit, Schork, Nicholas, Chen, Chi-Hua, Bettencourt, Ricki, Bhatt, Ana, Ang, Brandon, Nguyen, Phirum, Hernandez, Carolyn, Richards, Lisa, Salotti, Joanie, Lin, Steven, Seki, Ekihiro, Nelson, Karen E, Sirlin, Claude B, Brenner, David, and Genetics of NAFLD in Twins Consortium
Subjects: Liver Cirrhosis, Adult, Male, Heredity, Chronic Liver Disease and Cirrhosis, Clinical Sciences, Twins, Genetics of NAFLD in Twins Consortium, California, Oral and gastrointestinal, Monozygotic, Paediatrics and Reproductive Medicine, Risk Factors, Non-alcoholic Fatty Liver Disease, Clinical Research, NAFLD, Dizygotic, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Prospective Studies, Aetiology, Aged, Chi-Square Distribution, Gastroenterology & Hepatology, Liver Disease, NASH, Neurosciences, Middle Aged, Magnetic Resonance Imaging, Fatty Liver, Cross-Sectional Studies, Phenotype, Multivariate Analysis, Elasticity Imaging Techniques, Biomedical Imaging, Female, Genetic Factors, Digestive Diseases
Abstract: Background & aimsLittle is known about the heritability of hepatic fibrosis, and the heritability of hepatic steatosis has not been assessed systematically in adults. We investigated the heritability of hepatic fibrosis and steatosis in a community-dwelling twin cohort.MethodsWe performed a cross-sectional analysis of a cohort of well-characterized twins residing in Southern California including 60 pairs of twins (42 monozygotic and 18 dizygotic; average age, 45.7 ± 22.1 y; average body mass index, 26.4 ± 5.7 kg/m(2)). We collected data on medical history, physical examinations, fasting laboratory test results, and liver health; all participants underwent an advanced magnetic resonance imaging (MRI) examination of the liver from January 2012 through January 2015. Hepatic steatosis was quantified noninvasively by MRI and determined based on the proton-density fat fraction (MRI-PDFF); liver fibrosis was measured based on stiffness measured by magnetic resonance elastography.ResultsTwenty-six of the 120 subjects (21.7%) had nonalcoholic fatty liver disease (defined as MRI-PDFF ≥ 5% after exclusion of other causes of hepatic steatosis). The presence of hepatic steatosis correlated between monozygotic twins (r(2)= 0.70; P < .0001) but not between dizygotic twins (r(2)= 0.36; P= .2). The level of liver fibrosis also correlated between monozygotic twins (r(2)= 0.48; P&nbsp
Published: 2015

35. Advances in Electrophysiological Research

Author: Chella, Kamarajan and Bernice, Porjesz
Subjects: Biomedical Research, Brain, Electroencephalography, alcohol use disorder, electroencephalogram, Special Section: Technologies for Translational Research, event-related potentials, electrophysiological research, family risk factors, Electrophysiological Phenomena, brain function, Alcoholism, electrophysiological measures, genetic factors, Humans, risk factors, pathophysiological processes, event-related oscillations, genes, Alcohol-Related Disorders, Evoked Potentials, alcohol-impaired offspring
Abstract: Electrophysiological measures of brain function are effective tools to understand neurocognitive phenomena and sensitive indicators of pathophysiological processes associated with various clinical conditions, including alcoholism. Individuals with alcohol use disorder (AUD) and their high-risk offspring have consistently shown dysfunction in several electrophysiological measures in resting state (i.e., electroencephalogram) and during cognitive tasks (i.e., event-related potentials and event-related oscillations). Researchers have recently developed sophisticated signal-processing techniques to characterize different aspects of brain dynamics, which can aid in identifying the neural mechanisms underlying alcoholism and other related complex disorders. These quantitative measures of brain function also have been successfully used as endophenotypes to identify and help understand genes associated with AUD and related disorders. Translational research also is examining how brain electrophysiological measures potentially can be applied to diagnosis, prevention, and treatment.
Published: 2015

36. Risk factors for breast cancer in a population with high incidence rates

Author: Christine A Erdmann, Georgianna Farren, Mary Gould, Charles P. Quesenberry, Flavia Belli, Virginia Souders-Mason, Linda Spence, Margaret Wrensch, Christina A. Clarke, Terri Chew, Marion M. Lee, Michelle Moghadassi, Janice Barlow, Roni Peskin-Mentzer, and Marisa Suzuki
Subjects: Breast biopsy, medicine.medical_specialty, Time Factors, Alcohol Drinking, case-control study, Oncology and Carcinogenesis, Population, Breast Neoplasms, California, socioeconomic status, breast cancer, Breast cancer, Risk Factors, medicine, breast neoplasms, risk factors, Humans, Oncology & Carcinogenesis, education, Gynecology, Medicine(all), education.field_of_study, medicine.diagnostic_test, business.industry, Incidence, Mortality rate, Incidence (epidemiology), Smoking, Middle Aged, medicine.disease, Random digit dialing, Religion, Socioeconomic Factors, Risk factors for breast cancer, Case-Control Studies, cancer cluster, risk heterogeneity, Multivariate Analysis, Commentary, genetic factors, Menarche, epidemiology, Female, San Francisco, business, Demography, Research Article
Abstract: Background This report examines generally recognized breast cancer risk factors and years of residence in Marin County, California, an area with high breast cancer incidence and mortality rates. Methods Eligible women who were residents of Marin County diagnosed with breast cancer in 1997–99 and women without breast cancer obtained through random digit dialing, frequency-matched by cases' age at diagnosis and ethnicity, participated in either full in-person or abbreviated telephone interviews. Results In multivariate analyses, 285 cases were statistically significantly more likely than 286 controls to report being premenopausal, never to have used birth control pills, a lower highest lifetime body mass index, four or more mammograms in 1990–94, beginning drinking after the age of 21, on average drinking two or more drinks per day, the highest quartile of pack-years of cigarette smoking and having been raised in an organized religion. Cases and controls did not significantly differ with regard to having a first-degree relative with breast cancer, a history of benign breast biopsy, previous radiation treatment, age at menarche, parity, use of hormone replacement therapy, age of first living in Marin County, or total years lived in Marin County. Results for several factors differed for women aged under 50 years or 50 years and over. Conclusions Despite similar distributions of several known breast cancer risk factors, case-control differences in alcohol consumption suggest that risk in this high-risk population might be modifiable. Intensive study of this or other areas of similarly high incidence might reveal other important risk factors proximate to diagnosis.
Published: 2003

37. Rationale and design of GENEiUS: a prospective observational study on the genetic and environmental determinants of body mass index evolution in Canadian undergraduate students

Author: Adeola F. Ishola, James MacKillop, Rita E. Morassut, David Meyre, Alexandra J. Mayhew, Christine Langlois, Marie Pigeyre, Hudson Reddon, Fereshteh T. Yazdi, and Akram Alyass
Subjects: Male, 0301 basic medicine, Gerontology, obesity, Health Behavior, Weight Gain, Body fat percentage, Body Mass Index, Freshman 15, 0302 clinical medicine, Risk Factors, Protocol, Prospective Studies, 030212 general & internal medicine, Adiposity, 2. Zero hunger, Nutrition and Metabolism, 4. Education, General Medicine, freshman 15, undergraduate students, 3. Good health, Eating disorders, Female, Waist Circumference, Adult, Canada, Adolescent, Universities, longitudinal, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Screen time, environmental factors, medicine, Humans, Students, Exercise, Waist-Hip Ratio, business.industry, Weight change, medicine.disease, Obesity, 030104 developmental biology, genetic factors, Observational study, business, Body mass index
Abstract: IntroductionObesity is a global epidemic and is a risk factor for developing other comorbidities. Young adulthood is a critical period for body weight change and establishing healthy lifestyle behaviours. The ‘Freshman 15’ suggests that undergraduate students gain 15 lbs (6.8 kg) during their first year of university, although evidence estimates a more modest weight gain of approximately 3–5 lbs (1.4–2.3 kg). Previous studies have only investigated weight change in the first year and do not study potential risk factors. Genetic and EnviroNmental Effects on weight in University Students (GENEiUS) is a prospective observational study which will investigate the environmental and biological determinants of weight change in undergraduate students over 4 years.Methods and analysisThe GENEiUS study will recruit 2500 multiethnic undergraduates aged 17–25 years at McMaster University at the start of their first year and will follow them every 6 months for 4 years. Primary outcomes are obesity traits: body mass index, waist circumference, waist-to-hip ratio, body fat mass and body fat percentage. The contribution of well-established and novel genetic variants for obesity traits and heritability values will be derived from whole-genome single-nucleotide polymorphism genotyping arrays. Civil status, age, sex, ethnicity, length of residence in Canada, religiosity, energy intake, physical activity, exercise motivation, electronic screen time, sleep patterns, history of assault, smoking status, alcohol consumption, medication and drug use, stress, impulsivity, body image perception, self-esteem, anxiety, eating disorders and depression will be investigated for their effect on obesity traits. The findings of the GENEiUS study will be used to help design obesity prevention programme in North American universities with multiethnic populations.Ethics and disseminationEthical approval of the study protocol has been obtained from the Hamilton Integrated Research Ethics Board. Study results will be disseminated through scientific publications, scholarly meetings, and collaborative meetings with university administration and student groups.
Published: 2017
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38. The burden of alcohol use: excessive alcohol consumption and related consequences among college students

Author: Aaron, White and Ralph, Hingson
Subjects: community environment, cognitive deficits, data collection, Adolescent, Alcohol Drinking, harmful drinking, injury, education, availability, data analysis, memory blackout, Binge Drinking, brain function, Young Adult, college student, alcohol use, abuse, and dependence, Cost of Illness, environmental factors, death, Humans, risk factors, Alcohol consumption, survey, Students, social norms, alcohol burden, parental attitude, affordability, alcohol effects and consequences, sexual assault, academic performance, underage drinking, Articles, Health Surveys, accessibility, Alcoholism, athletes, genetic factors, Greek organization, overdose
Abstract: Research shows that multiple factors influence college drinking, from an individual’s genetic susceptibility to the positive and negative effects of alcohol, alcohol use during high school, campus norms related to drinking, expectations regarding the benefits and detrimental effects of drinking, penalties for underage drinking, parental attitudes about drinking while at college, whether one is member of a Greek organization or involved in athletics, and conditions within the larger community that determine how accessible and affordable alcohol is. Consequences of college drinking include missed classes and lower grades, injuries, sexual assaults, overdoses, memory blackouts, changes in brain function, lingering cognitive deficits, and death. This article examines recent findings about the causes and consequences of excessive drinking among college students relative to their non-college peers and many of the strategies used to collect and analyze relevant data, as well as the inherent hurdles and limitations of such strategies.
Published: 2014

39. Measuring the burden--current and future research trends: results from the NIAAA Expert Panel on Alcohol and Chronic Disease Epidemiology

Author: Rosalind A, Breslow and Kenneth J, Mukamal
Subjects: Biomedical Research, alcohol consumption, eating behaviors, Cost of Illness, cardiovascular disease, Neoplasms, Diabetes Mellitus, Humans, risk factors, cancer, NIAAA Expert Panel on Alcohol and Chronic Disease Epidemiology, Expert Testimony, alcohol burden, clinical trials, research, diabetes, Liver Diseases, Feeding Behavior, Articles, stroke, United States, Cardiovascular Diseases, Chronic Disease, genetic factors, epidemiology, Cognition Disorders, liver disease, Alcohol-Related Disorders, National Institute on Alcohol Abuse and Alcoholism (U.S.)
Abstract: Alcohol has a significant impact on health and well-being, from the beneficial aspects of moderate drinking to the detrimental effects of alcoholism. The broad implications of alcohol use on public health have been addressed through a wide range of epidemiological and clinical studies, many of which are described in this issue of Alcohol Research: Current Reviews. Where chronic disease is involved, alcohol use can be a risk factor that not only affects the onset of various chronic diseases but also exacerbates the ongoing extent and severity of those diseases. Lifestyle choices and genetic influences also contribute to, or help to alleviate, that risk.
Published: 2014

40. Genetic and environmental influences on cardiovascular disease risk factors: a study of Chinese twin children and adolescents

Author: Fuling Ji, Zengchang Pang, Dongfeng Zhang, Feng Ning, Dong Zhang, Karri Silventoinen, Haiping Duan, Shaojie Wang, Jianping Sun, Jiwei Liang, Jaakko Kaprio, Qing Qiao, Hjelt Institute (-2014), Department of Public Health, Institute for Molecular Medicine Finland, Department of Social Research (2010-2017), Sociology, Center for Population, Health and Society, Population Research Unit (PRU), and Genetic Epidemiology
Subjects: Male, Pediatrics, Twins, EUROPEAN-AMERICAN, BLOOD-PRESSURE, Cohort Studies, chemistry.chemical_compound, BIRACIAL COMMUNITY, Risk Factors, Child, Genetics (clinical), METABOLIC SYNDROME, 2. Zero hunger, Obstetrics and Gynecology, 3142 Public health care science, environmental and occupational health, Cardiovascular Diseases, BOGALUSA HEART, Female, Cohort study, medicine.medical_specialty, China, Waist, Adolescent, education, heritability cardiovascular risk profiles, MEDICAL-COLLEGE, Biology, AFRICAN-AMERICAN, children, Asian People, medicine, Humans, Genetic Predisposition to Disease, Chi-Square Distribution, Heritability, medicine.disease, Twin study, BODY-MASS INDEX, SCIENTIFIC STATEMENT, PHYSICAL-ACTIVITY, Blood pressure, chemistry, correlation, Pediatrics, Perinatology and Child Health, genetic factors, Uric acid, 3111 Biomedicine, Metabolic syndrome, Body mass index, Demography
Abstract: We evaluated the genetic and environmental contributions to metabolic cardiovascular risk factors and their mutual associations. Eight metabolic factors (body mass index, waist circumference, waist-to-hip ratio, systolic blood pressure, diastolic blood pressure, total serum cholesterol, serum triglycerides, and serum uric acid) were measured in 508 twin pairs aged 8–17 years from the Qingdao Twin Registry, China. Linear structural equation models were used to estimate the heritability of these traits, as well as the genetic and environmental correlations between them. Among boys, body mass index and uric acid showed consistently high heritability (0.49–0.81), whereas other traits showed moderate to high common environmental variance (0.37–0.73) in children (8–12 years) and adolescents (13–17 years) except total cholesterol. For girls, moderate to high heritability (0.39–0.75) were obtained for six metabolic traits in children, while only two traits showed high heritability and others mostly medium to large common environmental variance in adolescents. Genetic correlations between the traits were strong in both boys and girls in children (rg = 0.64–0.99 between body mass index and diastolic blood pressure; rg = 0.71–1.00 between body mass index and waist circumference), but decreased for adolescent girls (rg = 0.51 between body mass index and waist-to-hip ratio; rg = 0.55 between body mass index and uric acid; rg = 0.61 between body mass index and systolic blood pressure). The effect of genetic factors on most metabolic traits decreased from childhood to adolescence. Both common genetic and specific environmental factors influence the mutual associations among most of the metabolic traits.
Published: 2014

41. GSTA1-69C/T and GSTO2N142D as asthma- and allergy-related risk factors in Italian adult patients

Author: Mauro Rongioletti, Dario Manfellotto, Sara Piacentini, M. Cortesi, Fabrizio Papa, Maria Fuciarelli, Giancarlo M. Liumbruno, Andrea Iorio, and Renato Polimanti
Subjects: Adult, Male, Allergy, Physiology, Buccal swab, Single-nucleotide polymorphism, Inflammation, glutathione S-transferases, Settore BIO/08, Polymorphism, Single Nucleotide, genetic factors, glutathione S-transferases, GSTA1, GSTO2, respiratory diseases, single nucleotide polymorphisms, single nucleotide polymorphisms, Risk Factors, Physiology (medical), medicine, Hypersensitivity, Humans, Genetic Predisposition to Disease, Risk factor, Respiratory system, Asthma, Glutathione Transferase, Pharmacology, business.industry, respiratory diseases, Middle Aged, medicine.disease, respiratory tract diseases, Settore BIO/18 - Genetica, GSTA1, Italy, Case-Control Studies, Immunology, genetic factors, Population study, Female, medicine.symptom, business, GSTO2
Abstract: SUMMARY 1. Asthma and allergies are characterized by variable and subjective symptoms influenced by many genes, molecular mechanisms and environmental factors. The presence of inflammation and oxidative stress in the airways are important biochemical features of asthma and respiratory allergies. Glutathione Stransferase (GSTs) enzymes play an important role in cellular protection against inflammation, and functional genetic polymorphisms in GST genes show a significant association with asthma and allergy risk. Specifically, our previous study on asthmatic children highlighted GSTA1 and GSTO2 as novel susceptibility loci for asthma. 2. In the present study we focused our attention on GSTA1*-69C/T (rs3957357) and GSTO2*N142D (rs156697) polymorphisms to confirm our previous results in an independent adult study population and to clarify whether GSTA1 and GSTO2 gene polymorphisms are involved in a non-discriminative pathway towards asthma and respiratory allergy. 3. To accomplish this, we recruited 103 patients with respiratory allergies, 199 patients with asthma and 200 healthy controls. Genomic DNA extracted from buccal cells was screened for GSTA1*-69C/T and GSTO2*N142D single nucleotide polymorphisms. 4. The GSTA1*-69T and GSTO2*D142 variants are both associated with a significantly increased risk of asthma, whereas only GSTA1*-69C/T is significantly associated with allergies. These outcomes confirm the involvement of GSTO2 loci in asthma and suggest that GSTA1 is a common risk factor for asthma and allergies.
Published: 2013

42. The role of selected factors in the development and consequences of alcohol dependence

Author: Rebecca, Gilbertson, Robert, Prather, and Sara Jo, Nixon
Subjects: Male, age of AODU onset, brain, Age Factors, Articles, family AOD use (AODU) history, Alcoholism, comorbidity, Sex Factors, Risk Factors, environmental factors, gender differences, Diseases in Twins, genetic factors, Humans, Female, family factors, AOD effects, multiple drug use, Psychomotor Performance, alcohol and other drug (AOD) dependence
Abstract: Gender, family history, comorbid psychiatric and substance use disorders, and age all influence a person’s risk for alcoholism. In addition, these factors interact with alcoholism to influence neurocognitive functioning following detoxification. This article examines these factors and considers how they interact with each other. This complexity reinforces the need for both animal and human studies and suggests multiple factors that may be sensitive to differential prevention, intervention, and treatment efforts. Thus, it is imperative that hypothesis-driven research designs be directed to identifying the relative potency of these factors and their interactions.
Published: 2013

43. Discovering genes involved in alcohol dependence and other alcohol responses: role of animal models

Author: Kari J, Buck, Lauren C, Milner, Deaunne L, Denmark, Seth G N, Grant, and Laura B, Kozell
Subjects: QTL mapping, Ethanol, alcohol dependence, Quantitative Trait Loci, quantitative trait loci (QTLs), Chromosome Mapping, Articles, DNA, animal models, Substance Withdrawal Syndrome, Alcoholism, genetic theory of AODU, alcohol withdrawal, genetic factors, Animals, Humans, risk factors, genetic trait, quantitative trait genes (QTGs)
Abstract: The genetic determinants of alcoholism still are largely unknown, hindering effective treatment and prevention. Systematic approaches to gene discovery are critical if novel genes and mechanisms involved in alcohol dependence are to be identified. Although no animal model can duplicate all aspects of alcoholism in humans, robust animal models for specific alcohol-related traits, including physiological alcohol dependence and associated withdrawal, have been invaluable resources. Using a variety of genetic animal models, the identification of regions of chromosomal DNA that contain a gene or genes which affect a complex phenotype (i.e., quantitative trait loci [QTLs]) has allowed unbiased searches for candidate genes. Several QTLs with large effects on alcohol withdrawal severity in mice have been detected, and fine mapping of these QTLs has placed them in small intervals on mouse chromosomes 1 and 4 (which correspond to certain regions on human chromosomes 1 and 9). Subsequent work led to the identification of underlying quantitative trait genes (QTGs) (e.g., Mpdz) and high-quality QTG candidates (e.g., Kcnj9 and genes involved in mitochondrial respiration and oxidative stress) and their plausible mechanisms of action. Human association studies provide supporting evidence that these QTLs and QTGs may be directly relevant to alcohol risk factors in clinical populations.
Published: 2012

44. Main Determinants of PON1 Activity in Hemodialysis Patients

Author: Petronila Rocha-Pereira, Denisa Mendonça, Maria Isabel Mendonça, Henrique Nascimento, Vasco Miranda, Flávio Reis, Isabel Freitas, Sandra Ribeiro, Alice Santos-Silva, Maria do Sameiro Faria, Filipa Mascarenhas-Melo, Alexandre Quintanilha, Elísio Costa, and Luís Belo
Subjects: Male, medicine.medical_specialty, Genetic factors, medicine.medical_treatment, Risk Factors, Renal Dialysis, medicine, Humans, Intensive care medicine, Erythropoietin, Aged, Aged, 80 and over, Inflammation, Polymorphism, Genetic, biology, Portugal, business.industry, Aryldialkylphosphatase, Interleukin-6, Paraoxonase, Paraoxonase 1, Anemia, Non-genetic factors, Middle Aged, Prognosis, Madeira Island, PON1, Lipids, Enzyme Activation, C-Reactive Protein, Nephrology, Hemodialysis, biology.protein, Kidney Failure, Chronic, lipids (amino acids, peptides, and proteins), Female, Adiponectin, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, Biomarkers
Abstract: Background/Aims: Cardiovascular diseases are the major cause of morbidity and mortality in hemodialysis (HD) patients. These patients present reduced paraoxonase 1 (PON1) activity that depends on genetic and non-genetic factors; however, how these factors influence PON1 activity in HD patients is poorly clarified. Our aim was to evaluate the influence of two polymorphisms and non-genetic factors on PON1 activity in HD patients. Methods: We evaluated 183 HD patients under recombinant human erythropoietin (rhEPO) treatment and 22 healthy individuals. The lipid profile [total cholesterol, triglycerides, HDL-c, LDL-c, apolipoprotein (Apo) A-I, Apo B, lipoprotein(a) and oxidized low-density lipoprotein (Ox-LDL)], inflammatory markers [adiponectin, interleukin-6 (IL-6) and C-reactive protein (CRP)], PON1 activity and PON1 gene polymorphisms (L55M and Q192R) were evaluated. Results: HD patients presented higher levels of IL-6, CRP and Ox-LDL/LDL-c, and lower PON1 activity, total cholesterol, HDL-c, LDL-c, Apo A and Apo B; the most frequent genotype was heterozygosity for L55M polymorphism and homozygosity for the Q allele, the more frequent genotype of Q192R polymorphism. Multiple regression analysis identified heterozygosity and homozygosity for L55M and Q192R polymorphisms, very low-density lipoproteins, LDL-c, Apo A and CRP levels, time on dialysis and rhEPO dose, as the independent variables significantly associated with PON1 activity. The associations with CRP, rhEPO and time on dialysis were negative. Conclusion: Our results show that the reduced PON1 activity in HD patients who are not under statin therapy is strongly associated with inflammation, longer time on dialysis and high rhEPO doses, suggesting that the reduction in PON1 activity may worsen the prognosis of these patients.
Published: 2012

45. Variability of platelet indices and function: Acquired and genetic factors

Author: Licia Iacoviello, Francesco Gianfagna, Chiara Cerletti, Giovanni de Gaetano, and I. Santimone
Subjects: Platelets, Platelet count, Antiplatelet drug, Genetic factors, Epidemiology, Pharmacology, Inheritance, genetics, Risk Factors, Population genetics, medicine.medical_treatment, Antiplatelet drugs, Aspirin, Clopidogrel, Personalized medicine, Platelet function, Platelet indices, Platelet volume (mean), Variability, Genome-wide association study, Bioinformatics, NO, Risk Factors, Medicine, genetics, Platelet, Clinical significance, Mean platelet volume, Abnormal Platelet, business.industry, Immunology, business, medicine.drug
Abstract: Each individual has an inherent variable risk of bleeding linked to genetic or acquired abnormal platelet number or platelet dysfunction. In contrast, it is less obvious that the variability of platelet phenotypes (number, mean platelet volume, function) may contribute to the variable individual risk of thrombosis. Interindividual variability of platelet indices or function may be either due to acquired factors, such as age, sex, metabolic variables, smoke, dietary habits, and ongoing inflammation, or due to genetic factors. Acquired variables explain a small portion of the heterogeneity of platelet parameters. Genetic factors, instead, appear to play a major role, although a consistent portion of such a genetic variance has not yet been attributed to any specific genetic factor, possibly due to the high number of DNA loci potentially involved and to the limited effect size of each individual SNP. A portion of variance remains thus unexplained, also due to variability of test performance. A major contradiction in present platelet knowledge is, indeed, the difficulty to reconcile the universally accepted importance of platelet indices or function and the lack of reliable platelet parameters in cardiovascular risk prediction models. Trials on antiplatelet drugs were generally designed to select a homogeneous sample, whose results could be applied to an “average subject,” tending to exclude the deviation/extreme values. As the current indications for antiplatelet treatment in primary or secondary prevention of ischemic vascular disease still derive from the results of such clinical trials where platelet function and its variability was not investigated, we cannot at present rely upon any current platelet test to either initiate, or monitor, or modify or stop treatment with any antiplatelet drug. Evidence is, however, increasing that traditional platelet aggregometry and other more recently developed platelet function assays could be useful to optimize antiplatelet therapy and to predict major adverse cardiac events.The observation of interindividual differences in platelet response to antiplatelet drugs has enlarged the spectrum and the possible clinical relevance of the variability of platelet indices or function. The development of “personalized medicine” will benefit from the concepts discussed in this chapter.
Published: 2012

46. Gene-environment interaction and suicidal behavior

Author: Marco Sarchiopone, Alec Roy, and Vladimir Carli
Subjects: medicine.medical_specialty, Genetic factors, Genotype, Substance-Related Disorders, Poison control, Suicide, Attempted, Environment, Suicide prevention, Occupational safety and health, Life Change Events, Stress Disorders, Post-Traumatic, Surveys and Questionnaires, Injury prevention, Environmental factors, Medicine, Humans, Psychology, Gene–environment interaction, Serotonin transporter, Serotonin Plasma Membrane Transport Proteins, Depressive Disorder, Major, Polymorphism, Genetic, biology, business.industry, Public health, Risk factors, Human factors and ergonomics, General Medicine, medicine.disease, Aggression, Disruptive, Impulse Control, and Conduct Disorders, biology.protein, Medical emergency, business, Clinical psychology
Abstract: Studies have increasingly shown that gene-environment interactions are important in psychiatry. Suicidal behavior is a major public health problem. Suicide is generally considered to be a multi-determined act involving various areas of proximal and distal risk. Genetic risk factors are estimated to account for approximately 30% to 40% of the variance in suicidal behavior. In this article, the authors review relevant studies concerning the interaction between the serotonin transporter gene and environmental variables as a model of gene-environment interactions that may have an impact on suicidal behavior. The findings reviewed here suggest that there may be meaningful interactions between distal and proximal suicide risk factors that may amplify the risk of suicidal behavior. Future studies of suicidal behavior should examine both genetic and environmental variables and examine for gene-environment interactions.
Published: 2009

47. The Relationship Between Alcohol Metabolism, Estrogen Levels, and Breast Cancer Risk

Author: Helmut K, Seitz and Peter, Becker
Subjects: oropharyngeal cancer, Breast Neoplasms, heavy drinking, colorectal cancer, Acetaldehyde, Digestive System Neoplasms, chronic AOD use, cytochrome P450 2E1 (CYP2E1), ethanol metabolism, liver cancer, breast cancer, Risk Factors, Humans, cancer, Genetic Predisposition to Disease, esophageal cancer, Alleles, reactive oxygen species, Polymorphism, Genetic, Ethanol, Alcohol Dehydrogenase, upper respiratory system cancer, Articles, Aldehyde Dehydrogenase, aldehyde dehydrogenase (ALDH), Alcohol and other drug (AOD) consumption, Alcohol-Induced Disorders, aerodigestive tract cancer, colon cancer, genetic factors, laryngeal cancer, alcohol dehydrogenase (ADH), carcinogenesis
Abstract: Chronic alcohol consumption increases the risk for cancer of the organs and tissues of the respiratory tract and the upper digestive tract (i.e., upper aerodigestive tract), liver, colon, rectum, and breast. Various factors may contribute to the development (i.e., pathogenesis) of alcohol-associated cancer, including the actions of acetaldehyde, the first and most toxic metabolite of alcohol metabolism. The main enzymes involved in alcohol and acetaldehyde metabolism are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), which are encoded by multiple genes. Because some of these genes exist in several variants (i.e., are polymorphic), and the enzymes encoded by certain variants may result in elevated acetaldehyde levels, the presence of these variants may predispose to certain cancers. Several mechanisms may contribute to alcohol-related cancer development. Acetaldehyde itself is a cancer-causing substance in experimental animals and reacts with DNA to form cancer-promoting compounds. In addition, highly reactive, oxygen-containing molecules that are generated during certain pathways of alcohol metabolism can damage the DNA, thus also inducing tumor development. Together with other factors related to chronic alcohol consumption, these metabolism-related factors may increase tumor risk in chronic heavy drinkers.
Published: 2007

48. ALDH2, ADH1B, and ADH1C genotypes in Asians: a literature review

Author: Mimy Y, Eng, Susan E, Luczak, and Tamara L, Wall
Subjects: ethanol-to-acetaldehyde metabolism, Korean, ethnic groups, ethanol metabolism, Asian People, Focus on Special Populations, protective factors, Humans, risk factors, Genetic Predisposition to Disease, Filipino, ALDH2, Chinese, Ethanol, Indian, Alcohol Dehydrogenase, Genetic Variation, Alcohol dependence, Malaysian, Aldehyde Dehydrogenase, aldehyde dehydrogenase (ALDH), ADH1C, ADH1B, Asians, Alcoholism, genetic factors, Japanese, alcohol dehydrogenase (ADH), Thai, acetaldehyde
Abstract: Variants of three genes encoding alcohol-metabolizing enzymes, the aldehyde dehydrogenase gene ALDH2 and the alcohol dehydrogenase genes ADH1B and ADH1C, have been associated with reduced rates of alcohol dependence. The genotype prevalence of these genes varies in general samples of different Asian ethnic groups. The ALDH2*2 allele appears to be most prevalent in Chinese-American, Han Chinese and Taiwanese, Japanese, and Korean samples. Much lower rates have been reported in Thais, Filipinos, Indians, and Chinese and Taiwanese aborigines. ADH1B*2 is highly prevalent among Asians, with the exception of Indians. ADH1C*1 also is highly prevalent in Asians, but has only been examined in a few studies of Chinese and Korean samples.
Published: 2007

49. ALDH2, ADH1B, and ADH1C genotypes in Asians: a literature review

Author: Eng, Mimy Y, Luczak, Susan E, and Wall, Tamara L
Subjects: Asian Continental Ancestry Group, ethanol-to-acetaldehyde metabolism, alcohol dependence, Korean, ethnic groups, ethanol metabolism, aldehyde dehydrogenase, protective factors, Humans, risk factors, Psychology, Genetic Predisposition to Disease, Filipino, ALDH2, Chinese, Ethanol, Indian, alcohol dehydrogenase, Substance Abuse, Genetic Variation, Malaysian, ADH1C, ADH1B, Asians, Alcoholism, genetic factors, Japanese, Public Health and Health Services, Thai, acetaldehyde
Abstract: Variants of three genes encoding alcohol-metabolizing enzymes, the aldehyde dehydrogenase gene ALDH2 and the alcohol dehydrogenase genes ADH1B and ADH1C, have been associated with reduced rates of alcohol dependence. The genotype prevalence of these genes varies in general samples of different Asian ethnic groups. The ALDH2*2 allele appears to be most prevalent in Chinese-American, Han Chinese and Taiwanese, Japanese, and Korean samples. Much lower rates have been reported in Thais, Filipinos, Indians, and Chinese and Taiwanese aborigines. ADH1B*2 is highly prevalent among Asians, with the exception of Indians. ADH1C*1 also is highly prevalent in Asians, but has only been examined in a few studies of Chinese and Korean samples.
Published: 2007

50. Distribution of Risk Factors in Male and Female Primary Health Care Patients with Osteoarthritis in Albania

Author: Enver Roshi, Argjent Tafaj, Fatos Hoxha, Genc Burazeri, International Health, RS: CAPHRI School for Public Health and Primary Care, and RS: CAPHRI - R2 - Creating Value-Based Health Care
Subjects: Male, obesity, medicine.medical_specialty, Alcohol Drinking, weight lifting, Primary health care, Osteoarthritis, Bioinformatics, Sex Factors, Risk Factors, physical exercise, Internal medicine, medicine, Humans, Exercise, Original Paper, Primary Health Care, business.industry, Smoking, General Medicine, Middle Aged, Overweight, medicine.disease, Obesity, Weight lifting, osteoarthritis, trauma, Albania, genetic factors, Female, Alcohol intake, business, alcohol intake
Abstract: Aim: We aimed to describe the distribution of the main risk factors among primary health care users diagnosed with osteoarthritis in Albania, a post-communist country in South Eastern Europe. Methods: Our study involved all individuals who were diagnosed with osteoarthritis over a two-year period (January 2013 – December 2014) in several primary health care centers in Tirana, the Albanian capital. On the whole, during this two-year period, 1179 adult individuals were diagnosed with osteoarthritis (521 men aged 60.1±10.6 years and 658 women aged 58.1±9.6 years). According to the criteria of the American College of Rheumatology, the diagnosis of osteoarthritis was based on the history of the disease, physical examination, laboratory findings and radiological findings. Binary logistic regression was used to assess the sex-differences regarding the major risk factors among individuals diagnosed with osteoarthritis. Results: In multivariable-adjusted logistic regression models, female gender was inversely associated with smoking (OR=0.39, 95%CI=0.27-0.56), alcohol intake (OR=0.08, 95%CI=0.06-0.10), overweight but not obesity (OR=0.65, 95%CI=0.46-0.91 and OR=0.74, 95%CI=0.46-1.18, respectively), weight lifting (OR=0.38, 95%CI=0.22-0.66) and heavy physical exercise (OR=0.69, 95%CI=0.46-1.03). Conversely, female gender was positively related to genetic factors (OR=2.17, 95%CI=1.55-3.04) and preexisting inflammatory diseases (OR=1.53, 95%CI=0.93-2.53). Conclusion: This study offers useful evidence about the distribution of the main risk factors for osteoarthritis in adult individuals diagnosed with osteoarthritis in Albania. This information may support health professionals and decision-makers in Albania for evidence-based health planning and policy formulation in order to control the toll of osteoarthritis in this transitional society.
Published: 2015
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