The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.

ABSTRACT:

Purpose

This case-control study aims to examine possible associations of VSX1 exon3 gene variants with the development of keratoconus (KC) in Malaysian patients.

Methods

A case-control study was done on 42 keratoconus cases, 127 family member controls, and 96 normal controls.

Results

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).

Conclusion

The

SUBMITTER: Deva JP 

PROVIDER: S-EPMC10418017 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature