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 x 10(-12)), rs3753841 in COL11A1 (per-allele OR = 1.20; P = 9.22 x 10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR = 1.50; P = 3.29 x 10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
基金:
National Medical Research Council, SingaporeNational Medical Research Council, SingaporeUK Research & Innovation (UKRI)Medical Research Council UK (MRC) [NMRC/TCR/002-SERI/2008, R626/47/2008TCR, CSA R613/34/2008, NMRC 0796/2003, STaR/0003/2008]; National Research Foundation of SingaporeNational Research Foundation, Singapore; Biomedical Research Council, SingaporeAgency for Science Technology & Research (ASTAR) [BMRC 09/1/35/19/616, 08/1/35/19/550]; Genome Institute of Singapore; Beijing Municipal Natural Science FoundationBeijing Natural Science Foundation [7102036]; Key Project of the Beijing Municipal Natural Science Foundation [7081001]; Key Project of the National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81030016]
Vithana Eranga N.,Khor Chiea-Chuen,Qiao Chunyan,et al.Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma[J].NATURE GENETICS.2012,44(10):1142-+.doi:10.1038/ng.2390.
APA:
Vithana, Eranga N.,Khor, Chiea-Chuen,Qiao, Chunyan,Nongpiur, Monisha E.,George, Ronnie...&Aung, Tin.(2012).Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.NATURE GENETICS,44,(10)
MLA:
Vithana, Eranga N.,et al."Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma".NATURE GENETICS 44..10(2012):1142-+