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Monisha Nongpiur, Chiea Chuen Khor, Liang Xu, Jost Jonas, Jin Da Wang, Tien Wong, Eranga Vithana, Tin Aung; The Association Between Ocular Biometric Parameters and the Three Novel Primary Angle Closure Glaucoma (PACG) Susceptibility Loci. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6222.
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Three novel susceptibility loci for primary angle closure glaucoma (PACG) were recently identified (Vithana E et al, Nature Genetics 2012); PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18 genes on Chromosome 8q. 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 data on the three SNPs and ocular biometric data were available for 4 population-based studies including 3 from Singapore (Singapore Chinese Eye Study, Singapore Malay Eye Study, and Singapore Indian Eye Study) and one from China (Beijing Eye study). ACD and AL were measured using the IOLMaster (Carl Zeiss Meditec, Dublin, CA). Five readings were obtained and the average computed. The biometric measurements were excluded from any eye which was pseudophakic or aphakic.
Genotype and ocular biometric data were available for 6413 population-based individuals of Chinese, Indian, and Malay ethnicity from Singapore, and 877 population-based Chinese subjects from Beijing, China. Significant association was found between ACD and rs1015213 (PCMTD1-ST18; p=0.02, beta = -0.032). There was no association between ACD and rs11024102 (PLEKHA7; p=0.11) or rs3753841 (COL11A1; p=0.24). We did not observe significant associations between AL and any of the three SNPs.
The association between ACD and the PCMTD1-ST18 locus suggests that the susceptibility to PACG may be mediated by shallower anterior chamber, but not overall eyeball length. The association of these SNPs with other angle closure related biometric parameters such as anterior chamber width is also worthy of being investigated.
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