Polymorphisms of telomere-length related genes in three China ethnic groups

Little is known about polymorphic distribution of telomere-length related genes among ethnicities, which play important roles in the progression of high-altitude pulmonary edema (HAPE). We genotyped 45 single nucleotide polymorphism (SNP) in 300 unrelated healthy volunteers from the following three Chinese ethnic populations: Han (n = 100), Tibetan (n = 100) and Sherpa (n = 100). We used χ² test, pairwise FST values, and structure clustering analyses to investigate the genetic differences between these populations. Our results first indicated that rs12615793 (ACYP2), rs10936599 (TERC), rs10069690 (TERT) and rs6010620, rs4809324 (RTEL1) showed the greatest number of significant differences between Han and Tibetan, Sherpa and 11 HapMap populations. Meanwhile, we found that rs1056654 and rs1056629 (MPHOSPH6), rs2320615 (NAF1), rs6010621 (RTEL1), rs8105767 and rs2188972 (ZNF208) genotype frequencies showed considerable divergence among Tibetan and Sherpa. Besides, pairwise FST values and structure clustering analyses revealed that Han exhibited a close genetic affinity with CHD and CHB, but revealed a great genetic heterogeneity with YRI and MKK. This work greatly expanded our understanding of the distribution of telomere-length related genes in Chinese populations and may be helpful to forensic applications and population genetic studies.