Search

Your search keyword '"Fogarty R"' showing total 3 results
Start Over Author "Fogarty R" Topic genome-wide association study
3 results on '"Fogarty R"'

1. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Author

Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JNC, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DDG, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LME, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PTVM, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RCW, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CCW, Small KS, Burdon KP, Stefansson K, Wong TY, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, and Aung T

Subjects
ABO Blood-Group System genetics, ATP Binding Cassette Transporter 1 genetics, Adult, Aged, Aged, 80 and over, Chromosomes, Human, Pair 11 genetics, Chromosomes, Human, Pair 3 genetics, Chromosomes, Human, Pair 9 genetics, Cohort Studies, Female, Fibronectins genetics, Genotype, Glaucoma, Open-Angle genetics, Humans, Male, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Young Adult, Genetic Loci genetics, Genetic Predisposition to Disease genetics, Genome-Wide Association Study, Glaucoma genetics, Intraocular Pressure genetics
Abstract

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

Published
2014
Full Text
View/download PDF

2. Genetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics.

Author

Kaidonis G, Abhary S, Daniell M, Gillies M, Fogarty R, Petrovsky N, Jenkins A, Essex R, Chang JH, Pal B, Hewitt AW, Burdon KP, and Craig JE

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Body Mass Index, Case-Control Studies, Diabetes Mellitus, Type 1 complications, Diabetes Mellitus, Type 2 complications, Female, Fluorescein Angiography, Gene-Environment Interaction, Genetic Predisposition to Disease, Glycated Hemoglobin metabolism, Humans, Male, Middle Aged, Young Adult, Diabetic Retinopathy genetics, Genome-Wide Association Study, Macular Edema genetics, Patient Selection
Abstract

Background: Diabetic retinopathy (DR) is a blinding disease of increasing prevalence that is caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association analysis to detect genetic risk variants of DR., Methods: One thousand six hundred sixty-nine participants with either type 1 (T1) or type 2 (T2) diabetes mellitus (DM) aged 18 to 95 years were recruited in Australian hospital clinics. Individuals with T2DM had disease duration of at least 5 years and were taking oral hypoglycaemic medication, and/or insulin therapy. Participants underwent ophthalmic examination. Medical history and biochemistry results were collected. Venous blood was obtained for genetic analysis., Results: Six hundred eighty-three diabetic cases (178 T1DM and 505 T2DM participants) with sight-threatening DR, defined as severe non-proliferative DR, proliferative DR or diabetic macular oedema were included in this analysis. Eight hundred twelve individuals with DM but no DR or minimal non-proliferative DR were recruited as controls (191 with T1DM and 621 with T2DM). The presence of sight-threatening DR was significantly correlated with DM duration, hypertension, nephropathy, neuropathy, HbA1C and body mass index. Diabetic macular oedema was associated with T2DM (P < 0.001), whereas proliferative DR was associated with T1DM (P < 0.001)., Conclusions: Adoption of a case-control study design involving extremes of the DR phenotype makes this a suitable cohort, for a well-powered genome-wide association study to detect genetic risk variants for DR., (© 2013 Royal Australian and New Zealand College of Ophthalmologists.)

Published
2014
Full Text
View/download PDF

3. The PHF21B gene is associated with major depression and modulates the stress response

Author

Udo Dannlowski, Julio Licinio, Martin Lewis, Jorge I. Vélez, Aaron Chuah, Chenglong Yu, Stefan R. Bornstein, Rhys Fogarty, Sha Liu, Magdalene C. Jawahar, Gavin A. Huttley, Mauricio Arcos-Burgos, Bernhard T. Baune, V. Arolt, Ma-Li Wong, Wong, ML, Arcos-Burgos, M, Liu, S, Vélez, JI, Yu, C, Baune, BT, Jawahar, MC, Arolt, V, Dannlowski, U, Chuah, A, Huttley, GA, Fogarty, R, Lewis, MD, Bornstein, SR, and Licinio, J

Subjects
Male, single nucleotide, Immobilization stress, Genome-wide association study, California, Sensory perception test, Missing heritability problem, Mexican Americans, Haplotype, Major depression, Chronic stress, Innate immunity, Phd finger protein 21b, major depressive disorder (MDD), Psychiatry and Mental health, Clinical trial (topic), Cohort, Trpm2 gene, Cohort analysis, Human, Immigrant, Ubiquitin protein ligase, Genotype environment interaction, Case control study, Single-nucleotide polymorphism, Major clinical study, European, White People, Article, 03 medical and health sciences, whole-genome screening, Genetics, Humans, Animal experiment, Polymorphism, Molecular Biology, Genetic association, Aged, Depressive Disorder, Major, Depressive disorder, Genetic predisposition, stress response, medicine.disease, 030104 developmental biology, Mood disorders, Risk factors, Case-Control Studies, Phf21b gene, Whole genome sequencing, Rat, Gene expression, Risk factor, Mexican american, 0301 basic medicine, Unclassified drug, Gene Expression, major, Gene locus, Hippocampus, Animal tissue, Risk Factors, Middle aged, Priority journal, Mexican americans, Middle Aged, Brain region, Los Angeles, Mental stress, Transient receptor potential channel m2, Los angeles, Major depressive disorder, Original Article, Female, Psychology, Clinical psychology, Adult, Genetic predisposition to disease, Case-control studies, Caucasian, Stress, Polymorphism, Single Nucleotide, Heritability, Cellular and Molecular Neuroscience, medicine, Genetic Predisposition to Disease, Disease severity, Molecular pathology, Glutamate receptor, Nonhuman, Single nucleotide polymorphism, Gene ontology, Genetic variability, psychological, Controlled study, Stress, Psychological, Genome-Wide Association Study, European continental ancestry group
Abstract

Major depressive disorder (MDD) affects around 350 million people worldwide; however, the underlying genetic basis remains largely unknown. In this study, we took into account that MDD is a gene-environment disorder, in which stress is a critical component, and used whole-genome screening of functional variants to investigate the â missing heritability' in MDD. Genome-wide association studies (GWAS) using single- A nd multi-locus linear mixed-effect models were performed in a Los Angeles Mexican-American cohort (196 controls, 203 MDD) and in a replication European-ancestry cohort (499 controls, 473 MDD). Our analyses took into consideration the stress levels in the control populations. The Mexican-American controls, comprised primarily of recent immigrants, had high levels of stress due to acculturation issues and the European-ancestry controls with high stress levels were given higher weights in our analysis. We identified 44 common and rare functional variants associated with mild to moderate MDD in the Mexican-American cohort (genome-wide false discovery rate, FDR, less than 0.05), and their pathway analysis revealed that the three top overrepresented Gene Ontology (GO) processes were innate immune response, glutamate receptor signaling and detection of chemical stimulus in smell sensory perception. Rare variant analysis replicated the association of the PHF21B gene in the ethnically unrelated European-ancestry cohort. The TRPM2 gene, previously implicated in mood disorders, may also be considered replicated by our analyses. Whole-genome sequencing analyses of a subset of the cohorts revealed that European-ancestry individuals have a significantly reduced (50%) number of single nucleotide variants compared with Mexican-American individuals, and for this reason the role of rare variants may vary across populations. PHF21b variants contribute significantly to differences in the levels of expression of this gene in several brain areas, including the hippocampus. Furthermore, using an animal model of stress, we found that Phf21b hippocampal gene expression is significantly decreased in animals resilient to chronic restraint stress when compared with non-chronically stressed animals. Together, our results reveal that including stress level data enables the identification of novel rare functional variants associated with MDD. © 2017 Macmillan Publishers Limited.

Published
2017

Catalog

Books, media, physical & digital resources
See catalog results