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

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 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.

Epidemiologic and Genetic Studies of Keratoconus Patients in Korea

PURPOSE: To report the characteristics and genetic epidemiology of keratoconus patients in the Korean population based on questionnaires, ophthalmologic findings, and genetic studies. METHODS: From September 2007 through August 2009, an epidemiologic investigation was performed through questionnaires and ocular examination of 190 keratoconus patients. To investigate the genetic cause, blood samples were taken from the keratoconus patients. Genetic analysis of keratoconus was performed through the analysis of sensitive candidate genes. RESULTS: The mean age of the study subjects was 29.6 years. Seventy-seven percent of the subjects rubbed their eyes with 17 percent suffering from atopy, allergy, and asthma. Thirty-two percent of subjects demonstrated Vogt's striae as the most frequent biomicroscopic keratoconus finding. No family history was found. Genetic analysis showed sensitive genetic variations of VSX1, LUM, and IL1B. CONCLUSIONS: Epidemiology of Korean keratoconus patients was investigated through research and genetic study resulting in discovery of sensitive genes.