Abstract #82311 Published in IGR 20-4

Evaluating correlation between the ocular biometry and genetic variants of and with primary angle-closure glaucoma in a cohort from northern China

Wang SL; Piao SY; Xu MY; Zhang W; Ma JQ; Hao J; Chi H; Xue ZQ; Ha SP; Zhuang WJ
International Journal of Ophthalmology 2019; 12: 1317-1322

AIM: To investigate whether the gene variants in and are associated with primary angle-closure glaucoma (PACG) and anterior chamber depth (ACD) and axial length (AL) in samples from northern China. METHODS: The present case-control association study consisted of 500 PACG patients and 720 unrelated controls. Each participant was genotyped for eleven single nucleotide polymorphisms (SNPs) in and genes (rs12076134, rs183532, rs235875 and rs235913 in , rs2422493, rs2487042, rs2472496, rs2472493, rs2487032, rs2472459 and rs2472519 near ) using an improved multiplex ligation detection reaction (iMLDR) technique. The genetic association analyses were performed by PLINK using a logistic regression model. The association between genotypes and ocular biometric parameters was performed by SPSS using generalized estimation equation. Bonferroni corrections were implemented and the statistical power was calculated by the Power and Sample Size Calculation. RESULTS: Two SNPs rs183532 and rs235875 as well as a haplotype TTC in were nominally associated with PACG despite the significance was lost after Bonferroni correction. No association was observed between and PACG, neither did the association between these variants and ACD as well as AL. CONCLUSION: The present study suggests and do not play a part in the pathogenesis of PACG as well as the regulation of ocular biometric parameters in a northern Chinese population. Further investigations with large sample size are needed to verify this consequence.

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6.12 Ultrasonography and ultrasound biomicroscopy (Part of: 6 Clinical examination methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
1.1 Epidemiology (Part of: 1 General aspects)

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