Distribution of genetic polymorphisms of serum amyloid protein A1 in healthy Chinese Han and Uighur populations in Xinjiang

Abstract

To investigate the genetic polymorphisms of rs2229338 and rs12218 loci of serum amyloid protein A1 (SAA1) gene in healthy Chinese Han and Uighur populations of Xinjiang. The genotypes of the SAA1 gene were detected in 316 Uighur and 362 Han healthy individuals by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The genotype distributions of both populations were in the Hardy-Weinberg equilibrium (both P>0.05). The frequencies of AA, AG and GG genotypes of the rs2229338 locus were 76.6%, 23.4%, and 0 in the Uighurs, and 91.7%, 7.7% and 0.6% in the Hans. There was significant difference in distribution of genotypes between the two populations (P<0.01). The frequencies of CC, CT and TT genotypes of the rs12218 locus were 10.1%, 47.5%, and 42.4% in Uighurs, and 3.3%, 34.3% and 62.4% in Hans. There was also significant difference in distribution of genotypes between the two populations (P<0.01). The A-C and G-T haplotypes were more frequent in the Uighur but the A-T haplotype was more common in the Han population, respectively (both P<0.01). The mutational frequencies of the tagging SNPs in rs2229338 and rs12218 loci of theSAA1 gene in the Uighurs may be higher than those in Hans.