Genetic variation at Q192R and L55M polymorphisms in PON1

Earlier we have reported Q192R allele frequencies among four Indian populations as a part of an investigation of the distribution of Paraoxonase 1 polymorphisms. Here we present the results obtained after screening eleven populations representing different regions of India for Q192R and L55M. Population genetic analysis examining the effect of micro-evolutionary forces at these loci confirmed genetic differentiation at Q192R earlier suggested. The study groups showed high frequencies of L55 and differential distribution of Q192 and R192. Tests for deviation from neutrality indicated heterozygote excess at rs662 which has Q192R polymorphism. Higher levels of heterozygosity at Q192R than L55M might be because of its role in wide substrate specificity of the enzyme. A small but highly significant correlation between genetic and geographic distances was observed in a spatial autocorrelation analysis indicating non-random distribution of Q192 allele. Our findings are pertinent to toxicogenetic studies evaluating risk assessment towards organophosphate compounds among different continental groups.