Study of CD14 single nucleotide polymorphisms in native Tibetans living in high altitude

Abstract

Objective To understand the genetic feature of variations of single nucleotide polymorphisms (SNPs) in CD14 gene, we detected the full-length sequence of CD14 gene of native Tibetans situated in Tibetan plateau. Methods The full-length sequence of CD14 gene from 40 native Tibetans was detected by direct sequencing and that was compared with those recorded by NCBI and HapMap genome databases. By this way, the loci, type and frequency of SNPs in CD14 gene were determined, which was further compared with the SNP allele frequency of other populations. Results The sequencing length of CD14 gene in these native Tibetans is approximately 4259 bp. Among them nine SNP loci were detected, in which 6 has been listed in the dbSNP database of NCBI and the three new SNP loci include SNP04 (2755 T>G), SNP07 (3801 T>C) and SNP08 (4192 T>A). Four major haplotypes were calculated from the 9 SNP loci as below: CAGTCCTTG in a frequency of 36.1%, CGGTCCTTG of 28.8%, CGGTCCTTC of 5.8% and CGATCCTTG of 3.8%. Comparing alleles of different populations revealed that the distribution frequency of A allele at rs2563298 in Tibetan population is significantly lower than those in Chinese Han (P=0.016), European (P=0.000), Japanese (P=0.002) and African (P=0.001); that of G allele at rs2569190 is significantly lower than that in African (P=0.001), but similar to those in Chinese Han (P=0.755), Japanese (P=0.635) and European (P=0.467) and that of C allele at rs2569192 is significantly lower than that in European (P=0.035), but does not significantly differ from those in Chinese Han (P=0.837), Japanese (P=0.266) and African (P=0.064). Conclusion The distribution of SNPs in CD14 gene of native Tibetans situated in Tibetan plateau has specific hereditary characteristics, which provides a scientific basis for further exploring the pathogenesis of CD14-related diseases in such population. Key words: CD14; SNPs; High altitude; Native Tibetans