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Ventricular septal defect (VSD) is the most common congenital heart malformation in children. This study aimed to investigate potential pathogenic genes associated with Tibetan familial VSD. Whole genomic DNA was extracted from eight Tibetan children with VSD and their healthy parents (a total of 16 individuals). Whole-exome sequencing was performed using the Illumina HiSeq platform. After filtration, detection, and annotation, single nucleotide variations and insertion-deletion markers were examined. Comparative evaluations using the Sorting Intolerant from Tolerant, PolyPhen V2, Mutation Taster, and Combined Annotation Dependent Depletion databases were conducted to predict harmful mutant genes associated with the etiology of Tibetan familial VSD. A total of six missense mutations in genetic disease-causing genes associated with the development of Tibetan familial VSD were identified: activin A receptor type II-like 1 (c.652 C > T: p.R218 W), ATPase cation transporting 13A2 (c.1363 C > T: p.R455 W), endoplasmic reticulum aminopeptidase 1 (c.481 G > A: p.G161 R), MRI1 (c.629 G > A: p.R210Q), tumor necrosis factor receptor-associated protein 1 (c.224 G > A: p.R75H), and FBN2 (c.2260 G > A: p.G754S). The Human Gene Mutation Database confirmed activin A receptor type II-like 1, MRI1 , and tumor necrosis factor receptor-associated protein 1 as pathogenic mutations, while FBN2 was classified as a probable pathogenic mutation. This novel study directly screens genetic variations associated with Tibetan familial VSD using whole-exome sequencing, providing new insights into the pathogenesis of VSD. [ABSTRACT FROM AUTHOR]

Objective To investigate and analyze the root and root canal morphology of mandibular first molars (MFMs) in the Tibetan population using cone-beam computed tomography (CBCT) and to provide references for clinical root canal treatment in the Tibetan population. Methods This study was reviewed and approved by the Ethics Committee, and informed consent was obtained from the patients. CBCT imaging data of 300 mandibular first molars from 300 Tibetan patients were included. Patient age, the number of roots in mandibular first molars were recorded. The morphology and incidence of mesial root and mesial root canals and the morphology and incidence of distal root and distal root canals were statistically analyzed by Vertucci classification. Results There were 198 double-root teeth and 102 three-root teeth in the 300 mandibular first permanent molars. Among the three-rooted molars, 1 case had mesiolingual roots, and the rest had distolingual roots. The incidence rate of the distolingual root was 33.7%(101/300). The most common root canal configuration was Vertucci Ⅳ 65.7% (197/300), followed by Vertucci Ⅱ 20.3% (61/300) in the mesial roots. The overall incidence of middle mesial canals (MMCs) was 6% (18/300), with the highest incidence of MMCs in the 20-40 year-old group at 9% (9/100). The distal roots canals of single-distal-rooted mandibular first molars were mainly Vertucci Ⅰ 66.8% (133/199), followed by Vertucci Ⅱ 14.6% (29/199) and Vertucci Ⅳ 11.6% (23/199). For the mandibular first permanent molars with two distal roots, 96% (97/101) of the distal buccal roots and 100% (101/101) of the distal lingual roots were Vertucci Ⅰ root canals. Conclusion The root and root canal morphology of mandibular first permanent molars in a Tibetan population is complex and variable. Approximately one-third of patients have distolingual roots, and clinicians should carefully explore the root canals under the guidance of CBCT.

Objective To investigate and analyze the level of homocysteine (Hcy) in Tibet and to analyze the differences of Hcy level in different altitude regions, genders and ages, and thus to provide the prevalence profile of hyperhomocysteine and the differences in relevant tests between HHcy(hyperhomocysteinemia) and non-HHcy populations. Methods Totally 1 615(male n=585) subjects were selected from Ngari, Lhasa, Shigatse and Nyingchi plateau areas of Tibet by stratified cluster sampling. Serum Hcy level was analyzed and the difference of Hcy level in populations located at different altitude plateau areas, gender groups were found. The prevalence of hyperhomocysteine and related test were analyzed. Kruskal Wallis test was used to compare Hcy levels in different altitudes, genders and age groups, and Pearson Chi-square test was used to compare HHcy prevalence. Variance analysis was used for the differences of different test indicators between non-HHcy and HHcy populations. Results The level of Hcy in different regions and different genders were statistically significant, which was higher in males than that in females, and higher in Lhasa and Shigatse than in Nyingchi and Ngari. There was difference in serum HHcy prevalence among different genders, regions and age groups. Males showed a higher level than females, people from Lhasa and Shigatse showed a higher level than those from Nyingchi and Ngari. Conclusions The incidence of hyperhomocysteinemia in Tibet is statistically significant in different areas, different genders and different age groups. So this study provides a scientific basis for the rational use of Hcy as an indicator in clinical practice of prevention and treatment of related diseases in plateau areas.

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Copyright of Journal of Prevention & Treatment For Stomatological Diseases is the property of Journal of Prevention & Treatment For Stomatological Diseases Editorial Office 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.)

Copyright of Basic & Clinical Medicine is the property of Editorial Office of Basic & Clinical Medicine 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.)

As China's population ages, the nationwide prevalence of dementia is increasing. However, the epidemiology of dementia among the Tibetan population remains unclear. A cross-sectional study was conducted involving 9116 participants aged >50 years in the Tibetan population to investigate the risk factors and prevalence of dementia among this population. Permanent residents of the region were invited to participate, and the response rate was 90.7 %. The participants underwent neuropsychological testing and clinical assessments, from which physical measurements (e.g., body mass index, blood pressure), demographic information (e.g., gender, age), and lifestyle details (e.g., family living arrangement, smoking, alcohol arrangement) were recorded. Dementia diagnoses were made using the standard consensus diagnostic criteria. The risk factors of dementia were identified using stepwise multiple logistic regression. The average age of the participants was 63.71 (standard deviation = 9.36), and there were 44.86 % males. The prevalence of dementia was 4.66 %. The multivariate logistic regression analysis revealed that older age, unmarried status, lower education level, obesity, hypertension, diabetes, coronary heart disease, cerebral vascular disease, and HAPC were independently and positively associated with dementia (P < 0.05). However, no association was found between the frequency of religious activities and the prevalence of dementia in this population (P > 0.05). There exist a number of contributory risk factors for dementia in the Tibetan population, with variations associated with high altitude, religious activities (i.e., scripture turning, chanting, spinning Buddhist beads, and bowing), and dietary habits. These findings suggest that social activities, such as religious activities, are protective factors for dementia. • This study is the first epidemiological survey of dementia in Tibetan residential areas. • Focus on investigating the prevalence and risk factors for dementia in Tibetan adults over the age of 50. • Risk factors for dementia in Tibetan populations may be related to altitude, religious beliefs and dietary habits. [ABSTRACT FROM AUTHOR]

Abstract Background Our study aimed to explore the prevalence and risk factors of refractive error (RE) in Han and Tibetan population aged 50–79 years in Xining and surrounding areas in Qinghai Province on Qinghai-Tibet Plateau. Methods As part of the China National Health Survey, our cross-sectional study compared the age-adjusted prevalence of RE in Han and Tibetan older adults aged 50–79 years in Xining and surrounding areas. A multivariate logistic regression model was used to identify risk factors for myopia and hyperopia. Results Among 769 Han participants and 476 Tibetan participants, the age-adjusted prevalence of myopia (spherical equivalent (SE) + 0.5D), high myopia (SE = 0.5D) is 28.56, 22.82, 2.80, and 69.38%. Han participants have higher age-adjusted prevalence of myopia (32.93% vs 21.64%, p

BackgroundThe association between habitual food intake in Tibet and metabolic syndrome (MetS) is largely unclear.ObjectiveTo examine the association between Tibetan habitual food intake and MetS among Tibetan adults.MethodsA population-based cross-sectional study, named the China Multi-Ethnic Cohort (CMEC) study, was conducted between 2018 and 2019. We used data from all Tibetans in the CMEC in the current study. The participants, 1,954 men and 3,060 women aged 18–79 years, were from Lhasa, Tibet Autonomous Region, Tibet. The habitual dietary intake was assessed using a food frequency questionnaire (FFQ). MetS was defined according to ATP III guidelines. Multivariate logistic regression was used to estimate the association between five Tibetan habitual foods and MetS.ResultsTsampa, butter tea, and Qing cha intake were associated with reduced prevalence of MetS. Compared with the lowest quartile of each food, odds ratios (ORs) and their 95% confidence intervals (95% CIs) of medium and high Tsampa intake were 0.59 (0.41–0.85) and 0.53 (0.36–0.77), ORs (95% CIs) of butter tea were 0.67 (0.52–0.88) and 0.61 (0.46–0.81), and Qing cha were 0.85 (0.71–1.03) and 0.75 (0.60–0.93), respectively. When exploring the joint effects of these three foods on MetS, the adjusted ORs and their 95% CIs were 0.65 (0.49–0.87) for the middle intake group and 0.59 (0.42–0.83) for the high intake group as compared with the never/rarely group (p = 0.022 for trend). Associations of MetS with Tibetan noodles and raw beef were not observed.ConclusionTsampa, butter tea, and Qing cha were negatively associated with MetS. The recommendation of increasing the intake of these foods may be beneficial for MetS prevention.

Background Liver cirrhosis (LC) is caused by numerous chronic liver diseases and its complications are associated with qualitative and quantitative alterations of the gut microbiota. Previous studies have revealed the characteristics of gut microbiota in Han Chinese patients with LC and different compositions of gut microbiota were reported between the Tibetan and Han Chinese populations. This study was designed to evaluate the unique features of the gut microbiota of Tibetans and compare the differences of gut microbiota between Tibetan and Han Chinese patients with LC. Methods Thirty-six patients with liver cirrhosis and nineteen healthy volunteers, from both Tibetan and Han Chinese populations, were enrolled and fecal samples were collected for 16S rRNA gene sequencing analyses. Results Significant differences were found in the gut microbiota of healthy volunteers and between Tibetan and Han Chinese patients with LC. In the Han Chinese patients with cirrhosis (HLC) group the relative abundances of the phylum Bacteroidetes was significantly reduced (P < 0.001), whereas in the Tibetan patients with cirrhosis (TLC) group Firmicutes and Actinobacteria were highly enriched (P = 0.01 and 0.03, respectively). At the genus level, the relative abundances of Anaerostipes (P < 0.001), Bifidobacterium (P = 0.03), and Blautia (P = 0.004) were prevalent, while Alloprevotella, Dorea, Prevotella_2, Prevotella_7 and Prevotella_9 were decreased in the TLC group compared to the HLC group (P < 0.01). Conclusion Our findings showed how the intestinal bacterial community shifted in Tibetan patients with cirrhosis.

Background: Our study aimed to explore the prevalence and risk factors of refractive error (RE) in Han and Tibetan population aged 50-79 years in Xining and surrounding areas in Qinghai Province on Qinghai-Tibet Plateau.Methods: As part of the China National Health Survey, our cross-sectional study compared the age-adjusted prevalence of RE in Han and Tibetan older adults aged 50-79 years in Xining and surrounding areas. A multivariate logistic regression model was used to identify risk factors for myopia and hyperopia.Results: Among 769 Han participants and 476 Tibetan participants, the age-adjusted prevalence of myopia (spherical equivalent (SE) < - 0.5D), hyperopia (SE > + 0.5D), high myopia (SE < -6.0D) and astigmatism (cylindrical equivalent > = 0.5D) is 28.56, 22.82, 2.80, and 69.38%. Han participants have higher age-adjusted prevalence of myopia (32.93% vs 21.64%, p < 0.001), high myopia (3.93% vs 1.02%, p = 0.001) and astigmatism (72.14% vs 64.94%, p = 0.021) compared to Tibetan participants. Being Tibetan is the protective factor of myopia compared to being Han (OR 0.58, 95%CI 0.42-0.79, p < 0.001). Older age (p = 0.032), longer time length in rural area (p = 0.048), undergraduate/graduate education level (p = 0.031), lighter active level (p = 0.007) and lower BMI (p = 0.015) are risk factors for myopia. Older age (all p < 0.001) and pterygium status of the same eye (p = 0.013) also increase the hyperopia risk.Conclusions: Our study found an overall prevalence of myopia of 28.56% in Xining and surrounding areas in adults older than 50 years. Han population has higher myopia risk than Tibetan population. More medical and social resources should be allocated to improve the vision and life quality of older adults. [ABSTRACT FROM AUTHOR]

Abstract Objectives Alzheimer's disease (AD) is a well‐known neurodegenerative disease, of which the hallmark is the disposition of β‐amyloid (Aβ) in the form of plaque in the brain. Neprilysin (NEP) is the major enzyme to degrade Aβ and prevent accumulation of Aβ. The present study was undertaken to elucidate the correlation between the NEP gene polymorphisms and AD in Chinese Tibetan population. Methods Ninety‐nine sporadic AD Tibetan patients and 113 healthy Tibetan controls were enrolled in this study. The genotype frequencies and allele frequencies of multiple NEP gene loci were analyzed using the case–control association analysis. Results No significant correlation was found between polymorphisms of NEP gene loci (rs9829757, rs1816558, rs6776185, rs3736187, rs701109, rs989692) and the occurrence of AD in Tibetan population. However, allele C of NEP gene locus (rs701109) and allele T of gene locus (rs3736187) were possible risk factors of male AD patients in Tibetan population. Conclusions NEP gene loci (rs701109, rs989692, rs9829757, rs3736187, rs1816558, rs6776185) were polymorphic in Tibetan population. No difference was found between these loci but for that male gender combined with allele C of NEP gene locus (rs701109) and T of gene locus (rs3736187) might be risk factors for AD in Tibet.

Y-Chromosomal short tandem repeat polymorphisms (Y-STRs) are widely applied in human forensic cases and population genetic studies. There is a lack of information about the Sichuan Tibetan population in the Y-STR Haplotype Reference Database (YHRD, https://yhrd.org, release 59). In this study, 502 unrelated male individuals residing in the Sichuan Province were recruited and genotyped at 29 Y-STR loci. A total of 479 haplotypes were observed, 460 (96.03%) of which were unique. The haplotype diversity (HD) and discrimination capacity (DC) for the Sichuan Tibetan population were 0.9998 and 0.9542, respectively. To reveal the genetic diversities and relationships between the Chinese Sichuan Tibetan and 29 other previously reported populations, forensic parameter analysis, multi-dimensional scaling, and phylogenetic reconstruction were performed. The results showed that the Sichuan Tibetan population was relatively isolated from other populations, suggesting that genetic proximity is in line with geographical boundaries. [ABSTRACT FROM AUTHOR]

Objective: To examine the characteristics of the prevalence of congenital cleft lip with/without cleft palate in the ethnic Tibetan population and to provide support for the precise prevention and treatment of cleft lip with/without cleft palate in the Tibetan population., Methods: The clinical data of Tibetan patients with cleft lip with/without cleft palate were collected and the clinical characteristics of the patients were analyzed. The patients' age ranged from 2 months to 51 years old. All the subjects were admitted to West China Stomatology Hospital, Sichuan University for the treatment of cleft lip with/without cleft palate between January 2016 and August 2023. Most of the subjects came from Sichuan Province and the Tibet Autonomous Region., Results: A total of 1051 patients were enrolled and children aged under 12 months (460 cases) accounted for the largest proportion. Among the subjects, 383 had cleft lip only (36.44%), 140 had cleft palate only (13.32%), and 528 had cleft lip with cleft palate (50.24%). The male-to-female ratios of patients with cleft lip only (0.99∶1), cleft palate only (0.54∶1), and cleft lip with cleft palate (1.67∶1) exhibited significant differences ( P <0.001). However, there was no significant difference in the male-to-female ratio in patients with cleft lip only or those with cleft lip with cleft palate when the subjects were divided into two groups according to whether they had unilateral or bilateral cleft lip with/without cleft palate. Most of the patients with bilateral cleft lip were female, while most of the patients with unilateral cleft lip and unilateral or bilateral cleft lip with cleft palate were male. The unilateral cleft lip with/without cleft palate was located predominantly on the left side. Syndromic cleft lip with/without cleft palate accounted for 3.43% of all the cases and the most common concomitant deformity was congenital heart disease. 3.81% (40 cases) of the patients had a family history. In the patients with cleft lip only and those with cleft palate only, the proportion of patients having parents with corresponding phenotypes was higher than those of other phenotypes of cleft lip with/without cleft palate. Regarding the birth time distribution of the children with cleft lip with/without cleft palate, Spring saw the highest number of births of these children (311 cases, 29.59%), while Winter saw the lowest number of births (231 cases, 21.98%)., Conclusion: The cases of cleft lip with/without cleft palate in the ethnic Tibetan population are predominantly cleft lip and palate. Unilateral cleft lip only or cleft lip with palate is predominantly located on the left side. Lip disease phenotypes may be more heritable., Competing Interests: 利益冲突　所有作者均声明不存在利益冲突, (© 2024《四川大学学报（医学版）》编辑部 版权所有Copyright ©2024 Editorial Board of Journal of Sichuan University (Medical Sciences).)

Objective: To investigate the prevalence and influencing factors of isolated diastolic hypertension (IDH) in the Tibetan population in Tibet and to provide some evidence for the prevention and control of hypertension and other related diseases in high-altitude areas., Methods: A multistage stratified whole-group random sampling method was used to enroll participants from Ngari Prefecture, Nagqu City, Shannan City, and Lhasa City, Tibet. A total of 3918 native Tibetans with complete data were enrolled in the survey between June 2020 and August 2023. The participants were aged from 18 to 80. The demographic data, life habits, and chronic disease prevalence of the participants were collected. Fasting venous blood samples were collected to perform the routine blood tests and blood biochemistry tests. The prevalence of IDH in subgroups with different characteristics was analyzed and the influencing factors were analyzed by multivariate logistic regression, accordingly. The predictive value of influencing factors on the prevalence of IDH was analyzed by the receiver operating characteristic (ROC) curve and the findings were compared with those of the previous prediction models for IDH., Results: The prevalence of hypertension in the participants was 33.7% ( n =1321), among which, 395 had IDH, accounting for 29.9% of the hypertensive patients. The results of multivariate regression showed that age, heart rate, body mass index, waist circumference, hemoglobin, and low-density lipoprotein cholesterol were associated with risks of developing IDH ( P <0.05). The area under the ROC curve ( AUC ) was 0.71, which indicated improved accuracy for predicting the risks for IDH in comparison with previous predictive models for IDH. Among the influencing factors, BMI showed the best predictive value for IDH risks., Conclusion: The prevalence of IDH is high among Tibetans in Tibet, suggesting the necessity for rational allocation of health resources in accordance. Compared with the previous IDH prediction models, the model proposed in this study is more suited for the Tibetan population. Targeted interventions should be carried out for the high-risk populations, such as young and middle-aged adults and populations suffering from overweight/obesity, central obesity, high-altitude polycythemia, and dyslipidemia, so as to effectively control the occurrence and development of IDH., Competing Interests: 利益冲突　所有作者均声明不存在利益冲突, (© 2024《四川大学学报（医学版）》编辑部 版权所有Copyright ©2024 Editorial Board of Journal of Sichuan University (Medical Sciences).)

Objective: To analyze the prevalence of hyperuricemia (HUA) among the Tibetan population in Nagqu City, Tibet and to uncover the relevant influencing factors., Methods: From July 2020 to August 2021, 763 Tibetan natives from Bangor County (specifically Xinji Township and Jiaqiong Township) and Seni District (specificially Sexiong Township), Nagqu City were investigated by multi-stage cluster random sampling method and the prevalence of HUA was studied by retrospective analysis. Chi-square test and multiple logistic regression were used to analyze the influencing factors of HUA prevalence., Results: The overall prevalence of HUA among the Tibetan population in the three townships of Nagqu City was 19.66% (150/763). In particular, the prevalence in men was 35.00%, while that in women was 8.58%, showing significant difference ( P <0.05). According to the results of univariate analysis, there were significant differences in the distribution of sex, abnormal liver function, abnormal hemoglobin, hyperlipidemia, high level of low-density lipoprotein, hypertriglyceridemia, hypercholesterolemia, abnormal creatinine, hyperhomocysteinemia, obesity, and hypertension between HUA and non-HUA patients ( P <0.05). Multiple logistic regression showed that female sex (odds ratio [ OR ]=0.195, 95% confidence interval [ CI ]: 0.120-0.315) was a protective factor for HUA, while abnormal liver function ( OR =2.812, 95% CI : 1.685-4.692), abnormal creatinine ( OR =7.374, 95% CI : 1.446-37.620), high level of low-density lipoprotein ( OR =2.357, 95% CI : 1.011-5.492), and hyperlipidemia ( OR =3.056, 95% CI : 1.886-4.951) were independent risk factors., Conclusion: The prevalence of HUA is relatively high in Nagqu city and the prevalence of HUA is much higher in men than that in women. Male sex, abnormal liver function, abnormal creatinine, elevated low-density lipoprotein, and hyperlipidemia may be the risk factors for HUA in the local Tibetan population., Competing Interests: 利益冲突　所有作者均声明不存在利益冲突, (© 2024《四川大学学报（医学版）》编辑部 版权所有Copyright ©2024 Editorial Board of Journal of Sichuan University (Medical Sciences).)

The X-chromosomal short tandem repeats (STRs) with more informative than autosomal STRs in some complicated biological relationships identification due to its specific mode of genetic transmission can be used as a complementary tool in forensic case practices. In this study, we presented the population genetic data of 19 X-STRs, consisting of DXS10174, DXS10075, DXS10079, DXS101, DXS10101, DXS10103, DXS10134, DXS10135, DXS10148, DXS10159, DXS10162, DXS10164, DXS6789, DXS6809, DXS7132, DXS7423, DXS7424, DXS8378, and HPRTB loci, in a sample of 235 individuals of Tibetan nationality from Sichuan province, Southwest China. All 19 X-STR loci were consistent with Hardy-Weinberg equilibrium. The results showed that the combined power of discrimination in females and males are 0.999999999999999999997 and 0.9999999999997, respectively. In addition, the mean paternity exclusion chances based on the formula of MECKrüger, MECKishida, and MECDesmarais as well as MECDesmarais Duo are 0.99999991, 0.9999999999924, 0.9999999999929, and 0.999999985, respectively. In summary, our findings suggested that the AGCU X19 kit can be considered to serve as a high polymorphic information tool for forensic identification and kinship testing in the Sichuan Tibetan population. Furthermore, population genetic structure investigation between Sichuan Tibetan population and other 19 populations using PCA, MDS, and phylogenetic tree illustrated that significant genetic difference was observed between the Sichuan Tibetan and Malay, as well as the Xinjiang Uyghur population. [ABSTRACT FROM AUTHOR]

The cytochrome P450 (CYP) 1A2 gene is involved in the metabolism of several carcinogens and clinically important drugs, generating a high potential for pharmacokinetic interactions. Since no data are available for Tibetan aborigines, the present study aimed to investigate the distribution of variant CYP1A2 alleles in a population living in Tibetan region of China. Genotyping analyses of CYP1A2 were conducted in 96 unrelated, healthy volunteers of Tibetan ancestry using direct sequencing assays. A total of 14 different CYP1A2 polymorphisms, including two novel variants (1690G>A and 2896C>T) in the intron region and a novel non-synonymous one (795G>C, Gln265His) were detected. CYP1A2*1A (6.77%), CYP1A2*1B (58.33%) and CYP1A2*1F (14.58%) were the most frequent defective alleles identified in the sample. The frequencies of the prevalent genotypes CYP1A2*1A/*1B, *1B/*1B, *1B/*1F were 13.54%, 16.67% and 29.17%, respectively. In addition, the novel non-synonymous variant 795G>C (Gln265His) was predicted to be benign by PolyPhen-2 and SIFT tools. The present study provides useful information on the pattern of CYP1A2 polymorphisms in Chinese Tibetan population. The current results may have potential benefits for the development of personalized medicine in the Tibetan population. [ABSTRACT FROM AUTHOR]

Objective: To explore the possible interaction between overweight/obesity and dyslipidemia and to provide some evidence for the interaction of the risk of hypertension with overweight/obesity and dyslipidemia., Methods: By using multi-stage stratified cluster random sampling method, the subjects of the study were randomly selected from Naqu city, Shannan city, and Ali prefecture, Tibet. A total of 4047 Tibetans with complete data were included. Investigators obtained relevant information on the subjects through questionnaire surveys, measured their height, body mass index, and blood pressure, and collected fasting venous blood samples. The multivariate logistic regression model was used to analyze the independent effects of overweight/obesity and dyslipidemia and hypertension. Stratified analysis and an additive interaction model were used to evaluate the effect of two-factor interaction on the risk of hypertension., Results: The overall prevalence of hypertension, overweight/obesity, and dyslipidemia among Tibetans living in Tibet was 29.3%, 46.2%, and 40.9%, respectively. Overweight/obesity (odds ratio [ OR ]=2.151) and dyslipidemia ( OR =1.240) were risk factors of hypertension. Evaluation results of the effect of additive interaction showed significant additive interaction of overweight/obesity and dyslipidemia on hypertension ( P =0.028), with the synergy index ( SI ) being 1.318., Conclusion: Overweight/obesity and dyslipidemia are risk factors for having hypertension and there is an additive interaction between dyslipidemia and overweight/obesity., (Copyright© by Editorial Board of Journal of Sichuan University (Medical Sciences).)

Context: Estimation of the age is a procedure adopted by anthropologists, archeologists and forensic scientists. Different methods have been undertaken. However none of them meet the standards as Demirjian's method since 1973. Various researchers have applied this method, in both original and modified form (Chaillet and Demirjian in 2004) in different ethnic groups and the results obtained were not satisfactory. Aims: To determine the applicability and accuracy of modified Demirjian's method of dental age estimation (AE) in 8-18 year old Tibetan young adults to evaluate the interrelationship between dental and chronological age and the reliability between intra- and inter observer relationship. Settings and Design: Clinical setting and computerized design. Subjects and Methods: A total of 300 Tibetan young adults with an age range from 8 to 18 years were recruited in the study. Digital panoramic radiographs (DPRs) were evaluated as per the modified Demirjian's method (2004). Statistical Analysis Used: Pearson correlation, paired t-test, linear regression analysis. Results: Inter -and intraobserver reliability revealed a strong agreement. A positive and strong association was found between chronological age and estimated dental age (r = 0.839) with P < 0.01. Modified Demirjian method (2004) overestimated the age by 0.04 years (2.04 months) in Tibetan young adults. Conclusions: Results suggest that, the modified Demirjian method of AE is not suitable for Tibetan young adults. Further studies: With larger sample size and comparision with different methods of AE in a given population would be an interesting area for future research. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To investigate the relationship between SNPs reported in previous studies and the blood lipid level in the Tibetan population. Methods: Random cluster sampling was employed in 5 areas (Lhasa, Shigatse, Shannan, Nagqu, and Nyingchi). The levels of cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) from blood samples were determined and DNA was extracted for genotyping and statistical analyses. Results: Among 1 318 subjects aged >18 years enrolled in this study, 367 had dyslipidemia with a prevalence of 27.8%, of whom dyslipidemia males accounted for 33.1% and dyslipidemia females −24.5%. Results of the correlation analysis between all SNPs and TG showed that the SNPs of rs714052 and rs964184 were related to the serum TG level. Subjects with rs714052 CC genotype had the lowest TG level, and the highest TG level was found in those with rs714052 TT genotype. The serum TG level in individuals with TC genotype lied in between the above two population groups. Subjects with rs964184 CC genotype had the lowest TG level, and the highest serum TG level was noted in those with rs964184 GG genotype. Conclusion: Several SNPs were found to be related to the serum TG level in the Tibetan population. The APOA5 gene and MLXIPL gene may be closely associated with the serum TG level in this ethnic population group. [Copyright &y& Elsevier]

Abstract: Background: Chinese Tibetans have a series of distinctive physiological traits which enable them to tolerate the extreme environment of the Tibetan plateau. P-selectin gene has been proved to be highly polymorphic in Europeans and Americans. Nevertheless, studies on either the frequency distributions of single nucleotide polymorphisms (SNPs) or haplotype diversity and linkage disequilibrium of P-selectin gene in Chinese Tibetan population are still unavailable. Methods: The frequency distributions of 3 SNPs in P-selectin gene promoter (−2123C/G, −1969A/G, −1817T/C) and 3 SNPs in exon region (Ser290Asn, Val599Leu, Thr715Pro) were investigated by real-time PCR and high-resolution melting method among 314 Chinese Tibetans and 328 age- and sex-matched Han people. Results: The frequencies of the −2123G and −1817T alleles among the Tibetan population had no significant differences from those of the Han population. Among the Tibetan population, the G allele frequency of −1969A/G and Ser290Asn were both higher than those of the Han population. Val599Leu and Thr715Pro did not show any polymorphism in the two populations. In the Tibetan population, −2123C/G, −1969A/G, −1817T/C and Ser290Asn were in tight linkage disequilibrium with each other. Conclusions: The frequency distributions of −1969A/G and Ser290Asn polymorphisms in the Tibetan population were different from those in the Han population. [Copyright &y& Elsevier]

Aim: To evaluate the primary antibiotic resistance in Helicobacter pylori strains isolated from a Chinese Tibetan population. Methods & materials: Gastric biopsies from 400 H. pylori treatment-naive Tibetan patients were collected for H. pylori isolation. Susceptibility to amoxicillin (AML)/clarithromycin (CLR)/levofloxacin (LEV)/metronidazole (MTZ)/tetracycline (TET)/rifampicin (RIF)/furazolidone (FZD) was determined by E-test or a disk diffusion assay. Results: Biopsies from 117 patients were H. pylori culture positive (29.3%). The primary resistance rates to MTZ, CLR, LEV, RIF, AML, TET and FZD were 90.6, 44.4, 28.2, 69.2, 7.7, 0.8 and 0.8%, respectively. Interestingly, 42.7% of the strains had simultaneous resistance to CLR and MTZ. Conclusion: Among Tibetan strains, primary resistance rates were high for CLR/MTZ/LEV, whereas primary resistance rates to AML/TET/FZD were low. The high resistance to RIF is a concerning finding.

Detection of CYP2A6 variant alleles, and knowledge about their allelic frequency in Tibetan ethnic groups, is important to establish the clinical relevance of screening for these polymorphisms to optimize pharmacotherapy. We used DNA sequencing to investigate the promoter, exons and surrounding introns, and untranslated region of the CYP2A6 gene in 100 unrelated healthy Tibetan individuals. We also used SIFT and PolyPhen-2 to predict the protein function of the novel non-synonymous mutation in CYP2A6 coding regions. We found 33 different CYP2A6 polymorphisms in the Tibetan population, five of which were novel: -98T > G in promoter region, 1886C > A, 5640C > A, 5827G > T in intron and missense mutation 5011G > A in exon 7. We identified six CYP2A6 alleles (*1, *10, *11, *14, *15 and *18), with a wide frequency range from 1.00% to 86.50% in the population. We also detected six CYP2A6 genotypes, with a wide frequency range from 2.00% to 73.00%. Three of which (*1/*10, *1/*11 and *1/*18) lead to decreased enzyme activity. This study provided new information regarding CYP2A6genetic polymorphisms in Tibetan individuals, which will greatly facilitate studies on the relevance of pharmacogenetics for CYP2A6 with respect to disease risk and to the pharmacokinetics and pharmacodynamics of many drugs., Competing Interests: None., (IJCEP Copyright © 2018.)

Introduction: Palatoscopy is the study of palatal rugae pattern to establish the identity of a person. The palatal rugae are permanent and unique to each person and can establish identity through discrimination (via casts, tracings, or digitized rugae patterns). In addition, rugae pattern may be specific to racial groups facilitating population identification (which may require postdisasters). Hence, they can be used in postmortem identification provided an antemortem record exists., Aim: To determine the palatal rugae pattern and to assess the predominant palatal rugae pattern in Indian and Tibetan (in Mundgod Taluka, Karnataka) populations., Materials and Methods: The impressions of the maxillary arch were made for a total of one hundred adults comprising fifty Indian and fifty Tibetan populations aged between 20 and 40 years, and the dental cast was made using dental stone. The rugae were highlighted by a sharp graphite pencil on the cast under adequate light and a magnification lens. Rugae patterns were assessed using Thomas and Kotze and Kapali et al . classification., Results: Total number of palatal rugae in Indian population (461) was more than Tibetan population (351). Moreover, Indian population showed predominantly wavy (43.60%) rugae pattern, whereas Tibetan showed curved (38.2%) rugae pattern., Conclusion: This suggests that there is a difference in the rugae pattern between Indian and Tibetan populations. Hence, palatal rugae pattern can be used as one of the methods in determining the ethnicity., Competing Interests: There are no conflicts of interest.

Aim: Pulmonary tuberculosis (PTB) is an infectious disease with a high incidence worldwide. Previous genome-wide association studies have identified multiple susceptibility loci for pulmonary tuberculosis (PTB); however, validation of these findings is still needed., Methods: For this study, we recruited 300 subjects with PTB and 300 healthy subjects from a Tibetan population living in near or in Xi'an, China. Association analyses of single-nucleotide polymorphisms (SNPs) in TAP2 and SEC14L2 were performed with SPSS Statistics (version 17.0), SNPStats, Haploview (version 4.2), and SHEsis software., Results: We found a correction between one SNP (rs1061660) and PTB based on Chi-square or Fisher's exact tests. In the allelic model analysis, the SNPs rs1061660 in SEC14L2 gene increased PTB 1.32-fold risk (OR = 1.32, CI = 1.05-1.66, P = 0.017). In the genetic model analysis, the rs3819721 in TAP2 gene was associated with increased 1.65-fold risk in the co-dominant model and 1.67-fold risk in the over-dominant model, respectively. For the rs1061660 in SEC14L2 gene, we found it was associated with a 1.49-fold increase the risk of PTB in the dominant model and a 1.37-fold increase the risk of PTB in the log-additive model, respectively., Conclusion: We found that two SNPs are associated with increased PTB risk in the Chinese Tibetan population., Competing Interests: None., (IJCEP Copyright © 2017.)

Abstract: Skeletal components play significant role in sex determination in forensic and anthropological fields. Skull is considered second best, after pelvis, in determination of sex. Methods based on morphological characteristics and morphometry are already in use with reasonable accuracy. Standardized radiographic techniques like cephalometry have advantages of being more precise and objective when compared to morphologic methods. The present study aimed at obtaining and comparing the reliability of cranio-mandibular parameters in South Indian and Indian immigrant of Tibetan populations using lateral and postero–anterior (PA) cephalograms. A total of 11 cephalometric parameters were traced on lateral and PA cephalograms manually. Functions to aid in the sex determination were developed by subjecting the cephalometric parameters to discriminant analysis. Among the chosen parameters bizygomatic width, ramus height, depth of face contributed most for sexual dimorphism in both the populations. Upper facial height was the additional parameter for sexual dimorphism in immigrant Tibetan population. The discrimination accuracy in South Indian population was 81.5% while that of immigrant Tibetan population was 88.2%. With the current study it can be concluded that cephalometric cranio-mandibular parameters can be used to discriminate the sex using discriminant function analysis and similar cranio-mandibular parameters contribute to sex prediction across populations. [Copyright &y& Elsevier]