Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Sg Long, Malaysia.
Indian J Ophthalmol. 2023 Jun;71(6):2443-2447. doi: 10.4103/IJO.IJO_2894_22.
This case-control study aims to examine possible associations of VSX1 exon3 gene variants with the development of keratoconus (KC) in Malaysian patients.
A case-control study was done on 42 keratoconus cases, 127 family member controls, and 96 normal controls.
Three gene variants, p.A182A, p.P237P, and p.R217H showed significant associations with keratoconus (P < 0.05). While p.A182A and p.P227P were more prevalent than in the family and normal controls (OR 3.14-4.05), the reverse was observed with p.R217H (OR 0.086-1.59). With Haploview analysis, p.A182A and p.P237P were shown to be in linkage disequilibrium (LD) (LOD (logarithm of the odds score) score of 2.0, r2 of 0.957, and 95% confidence interval (CI) of 0.96-1.00).
The study results suggest that the p.A182A and p.P237P variants could have contributed to the development of keratoconus in some Malaysians and that these two variants are likely to be co-inherited. In contrast, the p.R217H variant appeared to confer some protection against the development of keratoconus.
本病例对照研究旨在探讨 VSX1 外显子 3 基因突变与马来西亚圆锥角膜（KC）发病的可能相关性。
对 42 例圆锥角膜患者、127 名家族成员对照和 96 名正常对照进行病例对照研究。
3 个基因变异，p.A182A、p.P237P 和 p.R217H 与圆锥角膜显著相关（P<0.05）。p.A182A 和 p.P227P 比家族和正常对照组更为常见（OR 3.14-4.05），而 p.R217H 则相反（OR 0.086-1.59）。通过 Haploview 分析，p.A182A 和 p.P237P 显示出连锁不平衡（LD）（对数优势比（LOD）评分 2.0，r2 为 0.957，95%置信区间（CI）为 0.96-1.00）。
研究结果表明，p.A182A 和 p.P237P 变异可能导致部分马来西亚人发生圆锥角膜，且这两种变异可能共同遗传。相比之下，p.R217H 变异似乎对圆锥角膜的发生有一定的保护作用。
