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Start Over Author "How AC" Topic genome-wide association study
2 results on '"How AC"'

1. ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

Author

Nongpiur ME, Khor CC, Jia H, Cornes BK, Chen LJ, Qiao C, Nair KS, Cheng CY, Xu L, George R, Tan D, Abu-Amero K, Perera SA, Ozaki M, Mizoguchi T, Kurimoto Y, Low S, Tajudin LS, Ho CL, Tham CC, Soto I, Chew PT, Wong HT, Shantha B, Kuroda M, Osman EA, Tang G, Fan S, Meng H, Wang H, Feng B, Yong VH, Ting SM, Li Y, Wang YX, Li Z, Lavanya R, Wu RY, Zheng YF, Su DH, Loon SC, Yong VK, Allingham RR, Hauser MA, Soumittra N, Ramprasad VL, Waseem N, Yaakub A, Chia KS, Kumaramanickavel G, Wong TT, How AC, Chau TN, Simmons CP, Bei JX, Zeng YX, Bhattacharya SS, Zhang M, Tan DT, Teo YY, Al-Obeidan SA, Hon DN, Tai ES, Saw SM, Foster PJ, Vijaya L, Jonas JB, Wong TY, John SW, Pang CP, Vithana EN, Wang N, and Aung T

Subjects
Anterior Chamber metabolism, Asian People, Glaucoma, Angle-Closure pathology, Humans, Polymorphism, Single Nucleotide, Risk Factors, Anterior Chamber pathology, Genome-Wide Association Study, Glaucoma, Angle-Closure genetics, Multidrug Resistance-Associated Proteins genetics
Abstract

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size =  -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.

Published
2014
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2. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Author

Vithana EN, Khor CC, Qiao C, Nongpiur ME, George R, Chen LJ, Do T, Abu-Amero K, Huang CK, Low S, Tajudin LA, Perera SA, Cheng CY, Xu L, Jia H, Ho CL, Sim KS, Wu RY, Tham CCY, Chew PTK, Su DH, Oen FT, Sarangapani S, Soumittra N, Osman EA, Wong HT, Tang G, Fan S, Meng H, Huong DTL, Wang H, Feng B, Baskaran M, Shantha B, Ramprasad VL, Kumaramanickavel G, Iyengar SK, How AC, Lee KY, Sivakumaran TA, Yong VHK, Ting SML, Li Y, Wang YX, Tay WT, Sim X, Lavanya R, Cornes BK, Zheng YF, Wong TT, Loon SC, Yong VKY, Waseem N, Yaakub A, Chia KS, Allingham RR, Hauser MA, Lam DSC, Hibberd ML, Bhattacharya SS, Zhang M, Teo YY, Tan DT, Jonas JB, Tai ES, Saw SM, Hon DN, Al-Obeidan SA, Liu J, Chau TNB, Simmons CP, Bei JX, Zeng YX, Foster PJ, Vijaya L, Wong TY, Pang CP, Wang N, and Aung T

Subjects
Case-Control Studies, Genetic Loci, Humans, Logistic Models, Polymorphism, Single Nucleotide, Principal Component Analysis, Repressor Proteins genetics, Carrier Proteins genetics, Collagen Type XI genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Glaucoma, Angle-Closure genetics, Protein D-Aspartate-L-Isoaspartate Methyltransferase genetics
Abstract

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

Published
2012
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