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Abstract #51171 Published in IGR 14-3
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
Vithana EN; Khor CC; Qiao C; Nongpiur ME; George R; Chen LJ; Do T; Abu-Amero K; Huang CK; Low S; Tajudin LS; Perera SA; Cheng CY; Xu L; Jia H; Ho CL; Sim KS; Wu RY; Tham CC; Chew PT; Su DH; Oen FT; Sarangapani S; Soumittra N; Osman EA; Wong HT; Tang G; FaNature Genetics 2012; 44: 1142-1146
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.
Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Full articleClassification:
9.3.5 Primary angle closure (Part of: 9 Clinical forms of glaucomas > 9.3 Primary angle closure glaucomas)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
