全基因组关联研究鉴定出原发性闭角型青光眼的五个新易感位点。
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
机构信息
Genome Institute of Singapore, A-STAR, Singapore.
Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
出版信息
Nat Genet. 2016 May;48(5):556-62. doi: 10.1038/ng.3540. Epub 2016 Apr 4.
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
原发性闭角型青光眼（PACG）是全球范围内导致失明的主要原因之一。我们进行了一项全基因组关联研究（GWAS），随后在亚洲、澳大利亚、欧洲、北美和南美 24 个国家的总共 10503 例 PACG 病例和 29567 例对照中进行了复制。我们对所有患者群体进行荟萃分析后，观察到在五个新的遗传位点上存在显著的疾病关联证据。这些位点位于 EPDR1 rs3816415（优势比（OR）=1.24，P=5.94×10(-15))、CHAT rs1258267（OR=1.22，P=2.85×10(-16))、GLIS3 rs736893（OR=1.18，P=1.43×10(-14))、FERMT2 rs7494379（OR=1.14，P=3.43×10(-11))和 DPM2-FAM102A rs3739821（OR=1.15，P=8.32×10(-12))。我们还在三个先前描述的位点确认了显著的关联（每个前哨 SNP 在 PLEKHA7、COL11A1 和 PCMTD1-ST18 处的 P < 5×10(-8)），为 PACG 的生物学提供了新的见解。
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