| Geno
|
Mag
|
Summary
|
| (C;C)
|
|
normal
|
| (C;T)
|
|
weakly associated with increased cataract risk
|
| (T;T)
|
|
~2x increased risk for cataracts
|
rs7543472 is a SNP located 3' of the EPHA2 gene, which has at least one putative causative mutation leading to age-related cataracts. [PMID 19005574
]
A study involving a case-control cohort from Northern Italy, comprising 126 unrelated individuals with nuclear cataracts, 119 with cortical cataracts, and 104 unrelated controls with clear lenses, found increased risk associated two SNPs near the EPHA2 gene (rs7543472 and rs11260867). For rs7543472, the (T;T) genotype was as 1.9 - 2.1x increased risk for cataracts (p < 0.01). [PMID 19005574]
]
