We consistently replicated the association of ABCG8 gene with GSD (rs11887534, P = 3.24 × 10<sup>-8</sup>, OR = 1.74) and identified TRAF3 (rs12882491, P = 1.11 × 10<sup>-7</sup>, OR = 1.40) as a novel candidate gene for the disease in admixed Chilean Latinos.
The aim of this study was to analyze the relationship between D19H and T400K polymorphisms in the ABCG8 gene and GSD in an Indian population, and the effects of these polymorphisms on cholesterol levels in sera and bile.