Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort
Genes · 9 authors, 6 centres
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This case-control study investigated genetic polymorphisms in 98 keratoconus patients and 167 controls of Saudi origin. It found a modest protective association for the rs61876744(T) allele in the PNPLA2 gene against keratoconus, but the association was not significant after correction for multiple testing.
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This case-control study examined 98 keratoconus (KC) patients and 167 controls of Saudi origin to test the association of four polymorphisms (rs61876744, rs138380, rs429358, rs7412) with KC. The rs61876744(T) allele in the PNPLA2 gene showed a protective effect (OR=0.64, 95% CI=0.44–0.93, p=0.020), and the genotype showed a significant protective effect in a dominant model (OR=0.53, 95% CI=0.32–0.88, p=0.013). However, the allelic association did not remain significant after multiple testing correction (p=0.015). No significant association was found for rs138380, rs429358, or rs7412. ε2-carriers showed a greater than 5-fold increased risk of KC (p=0.055), but this was non-significant. Regression analysis showed no significant independent effect of age, gender, or the polymorphisms on KC. The findings suggest a possible role for PNPLA2 in KC but warrant larger replication studies.
