Acta Anatomica Sinica

AAS ›› 2013, Vol. 44 ›› Issue (3 ): 419-422.doi: 10.3969/j.issn.0529-1356.2013.03.025

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Association of polymorphisms of rs479200 and rs480902 in EGLN1 gene with hypoxia adaptation in high altitude in Tibetans

LÜ Po1  FAN Jie2  XI Huan-Jiu1*   

  1. 1.Institution of Anthropology，Liaoning Medical University，Liaoning Jinzhou 121001, China;2. The First Affiliated Hospital of Liaoning Medical, Liaoning Jinzhou 121001, China
  • Received:2012-06-05 Revised:2012-09-18 Online:2013-06-06 Published:2013-07-16

Abstract:

Objective To investigate the association of single nucleotide polymorphisms(SNPs) of rs479200(C/T) and rs480902
(T/C)—EGLN1 with hypoxia adaptation in high altitude in Tibet. Methods The blood samples were chosen from 150 Tibetans in
Tibet high altitude region and 150 Han nationality people in Liaoning province, and genomic DNA was extracted from the blood
samples. The single nucleotide polymorphisms of EGLN1 gene were examined by restriction fragment length polymorphism-polymerase
chain reaction(RFLP-PCR). Results The allele(C) frequency of EGLN1 gene rs479200 in Tibetans and in Han nationality was 71.33%
and 38.17%,and the allele(T) frequency of rs480902 was 66.67% and 36.67%. The genotype frequency of EGLN1 gene rs479200 in
Tibetans and in Han nationality was 6.67% and 56.67% in TT genotype,29.33% and 33.33% in TC genotype and 64% and 10% in CC
genotype. The genotype frequency of rs480902 was 60.67% and 9.33% in TT genotype,30.66% and 28.67% in TC genotype and 8.67%
and 62% in CC genotype. TT genotype frequency of rs479200 in Tibetans was lower than that in Han nationality (P<0.01),while
CC genotype frequency of rs479200 in Tibetans was higher than that in Han nationality(P<0.01). No significant difference in
CT genotype frequency of rs479200 and rs480902 was observed between two groups respectively. Conclusion Polymorphisms of EGLN1
gene rs479200 and rs480902 are associated with hypoxia adaptation in high altitude in Tibetans．CC genotype of rs479200 and
TT genotype of rs480902 may be benefit to hypoxia adaptation.

Key words: EGLN1, High altitude hypoxia adaptation, Single nucleotide polymorphisms(SNP), PCR-RFLP, Tibetan

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