OBJECTIVETo investigate the association of single nucleotide polymorphisms (SNPs) of 1772 (C-->T) and 1790 (G-->A) in exon 12 of hypoxia-inducible factor 1, alpha subunit gene (HIF1A) with hypoxia adaptation in high altitude in Sherpas.

METHODSThe blood samples were chosen from 148 Sherpas in Tibet high altitude and 90 Han nationality healthy people in Guangdong province, and from which genomic DNA was extracted. The single nucleotide polymorphisms of 1772(C-->T) and 1790(G-->A) in exon 12 of HIF1A gene were examined by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR).

RESULTSThe genotype frequency of HIF1A gene 1790 (G-->A) in Sherpas and Han nationality was 57.43% versus 75.56% in GG genotype, 37.84% versus 21.11% in GA genotype and 4.73% versus 3.33% in AA genotype. GG genotype frequency in Sherpas was lower than that in Han nationality (P<0.01), while GA genotype frequency in Sherpas was higher than that in Han nationality (P<0.01). No significant difference in CC, CT and TT genotype frequency of 1772(C-->T) was shown between two groups respectively. The total frequency of CC + GA, CT + AA, TT + GA and TT + AA in Sherpas was higher than that in Han nationality.

CONCLUSIONPolymorphisms of HIF1A gene 1790 (G-->A) are associated with hypoxia adaptation in high altitude in Sherpas. GA and AA genotype may be benefit to hypoxia adaptation, and it is worthy of deep-going investigation.