Frequency distribution of single nucleotide polymorphisms in P-selectin gene in Chinese Tibetan and Han populations

Abstract: Background: Chinese Tibetans have a series of distinctive physiological traits which enable them to tolerate the extreme environment of the Tibetan plateau. P-selectin gene has been proved to be highly polymorphic in Europeans and Americans. Nevertheless, studies on either the frequency distributions of single nucleotide polymorphisms (SNPs) or haplotype diversity and linkage disequilibrium of P-selectin gene in Chinese Tibetan population are still unavailable. Methods: The frequency distributions of 3 SNPs in P-selectin gene promoter (−2123C/G, −1969A/G, −1817T/C) and 3 SNPs in exon region (Ser290Asn, Val599Leu, Thr715Pro) were investigated by real-time PCR and high-resolution melting method among 314 Chinese Tibetans and 328 age- and sex-matched Han people. Results: The frequencies of the −2123G and −1817T alleles among the Tibetan population had no significant differences from those of the Han population. Among the Tibetan population, the G allele frequency of −1969A/G and Ser290Asn were both higher than those of the Han population. Val599Leu and Thr715Pro did not show any polymorphism in the two populations. In the Tibetan population, −2123C/G, −1969A/G, −1817T/C and Ser290Asn were in tight linkage disequilibrium with each other. Conclusions: The frequency distributions of −1969A/G and Ser290Asn polymorphisms in the Tibetan population were different from those in the Han population. [Copyright &y& Elsevier]