Singapore Eye Research Institute, Singapore.
Invest Ophthalmol Vis Sci. 2013 Aug 27;54(8):5824-8. doi: 10.1167/iovs.13-11901.
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18. The purpose of this study was to investigate the associations of these loci with the ocular biometric parameters anterior chamber depth (ACD) and axial length (AL).
Genotype and ocular biometric data were available for four population-based studies, including three from Singapore (Singapore Chinese Eye Study, Singapore Malay Eye Study, and Singapore Indian Eye Study) and one from China (Beijing Eye Study), exceeding 7000 participants. ACD and AL were measured using the IOLMaster for the Singapore cohorts and optical low-coherence reflectometry (Lenstar 900 Optical Biometer) for the Beijing cohort. Five readings were obtained for each participant and the average was computed. Analysis excluded any eye that was pseudophakic or aphakic.
ACD measurements and genotype data of the three loci were available for 7245, 7243, and 7239 subjects, respectively. We noted nominal evidence of association between single nucleotide polymorphism (SNP) rs1015213 (PCMTD1-ST18) and a shallower ACD when all data were meta-analyzed (β = -0.033, P = 0.021). When multiple testing was considered, the observation was nonsignificant. There was no association between ACD and rs11024102 (PLEKHA7) or rs3753841 (COL11A1). We did not observe significant associations between AL and any of the three SNPs.
The lack of association between the PACG susceptibility loci with ACD or AL suggests that predilection to PACG may be mediated by factors other than shallow anterior chamber or short eyeball length.
最近发现三个原发性闭角型青光眼（PACG）易感性位点：PLEKHA7 rs11024102、COL11A1 rs3753841 和位于 PCMTD1 和 ST18 之间基因间区域的 rs1015213。本研究旨在探讨这些位点与眼前房深度（ACD）和眼轴长度（AL）等眼部生物测量参数的相关性。
该研究纳入了四项基于人群的研究，包括来自新加坡的三项研究（新加坡华人眼研究、新加坡马来人眼研究和新加坡印度人眼研究）和一项来自中国的研究（北京眼研究），超过 7000 名参与者。使用 IOLMaster 测量新加坡队列的 ACD 和 AL，使用光学低相干反射仪（Lenstar 900 光学生物测量仪）测量北京队列的 ACD 和 AL。每位参与者获得五次读数并计算平均值。分析排除了任何白内障或无晶状体眼。
分别有 7245、7243 和 7239 名受试者可提供三个位点的 ACD 测量值和基因型数据。当对所有数据进行荟萃分析时，我们发现单核苷酸多态性（SNP）rs1015213（PCMTD1-ST18）与 ACD 较浅之间存在名义上的关联（β=-0.033，P=0.021）。当考虑到多重检验时，该观察结果无统计学意义。ACD 与 rs11024102（PLEKHA7）或 rs3753841（COL11A1）之间无相关性。我们未发现 AL 与三个 SNP 之间存在显著相关性。
PACG 易感性位点与 ACD 或 AL 之间缺乏关联表明，PACG 的易感性可能是由前房较浅或眼球较短等因素以外的因素介导的。
