Variability of the paraoxonase gene (PON1) in Euro- and Afro-Brazilians

Abstract

The human high-density lipoprotein-associated paraoxonase (EC 3.1.1.2; PON1) plays a role in the hydrolysis of organophosphorus compounds and against the oxidative damage of low-density lipoprotein. In the present study, variants of PON1 (55 and 192) were investigated by PCR-RFLP and PCR-SSCA in Euro- (N = 101) and Afro-Brazilians (N = 70). The PON1*55 and PON1*192 allele frequencies were significantly different in these ethnic groups (p < 0.05 and p < 0.001, respectively). The genotype frequencies for PON1*55 (LL, LM, and MM) in Euro- and Afro-Brazilians were 33, 56, and 11% and 47, 49, and 4%, respectively. The genotype frequencies for PON1*192 were significantly different in Euro- and Afro-Brazilians (QQ, QR, RR: 48, 42, and 10% and 21, 52, and 27%, respectively; p < 0.001). The haplotype frequency distributions were also significantly different in Euro- (LQ = 30.20%; LR = 30.69%; and MQ = 39.11%) and Afro-Brazilians (LQ = 24.97%; LR = 46.46%; MQ = 22.18%; and MR = 6.39%; p < 0.001). Linkage disequilibrium (D) in relation to the maximum expected value was higher in Euro- (100%) than in Afro-Brazilians (58%). We suggest that the high linkage disequilibrium in Caucasians and Asians characterized by the absence or very low frequency of the MR haplotype is mainly due to genetic drift and possibly also to natural selection favoring the PON1*192Q allele or a variant in linkage disequilibrium with it. This seems to be the first study on the PON1 variability at the DNA level in South American samples and one of the few studies on individuals of mixed African origin.