PMID- 27852386
OWN - NLM
STAT- MEDLINE
DCOM- 20171011
LR  - 20221207
IS  - 0376-2491 (Print)
IS  - 0376-2491 (Linking)
VI  - 96
IP  - 40
DP  - 2016 Nov 1
TI  - [Association between genetic polymorphisms of HIF-2alpha gene and high altitude 
      pulmonary hypertension in Han population].
PG  - 3213-3217
LID - 10.3760/cma.j.issn.0376-2491.2016.40.003 [doi]
AB  - Objective: To test the hypothesis that the single nucleotide polymorphisms (SNPs) 
      in HIF-2alpha gene were associated with the susceptibility of high altitude pulmonary 
      hypertension (HAPH) in Han population in China. Methods: Those Han population who 
      emigrated to plateau (average altitude 3 300 m) and have been lived here for more 
      than 20 years were included as the research subjects, the method of cluster 
      random sampling was used to enroll 49 HAPH patients as the case group (HAPH 
      group) and 39 free of HAPH people as the control group. The Sanger chain 
      termination method was used to detect the SNPs of rs1562453, rs1867785, 
      rs4953361, rs7598371 and rs11125068 in HIF-2alpha gene. Results: The genotype and 
      frequencies of rs1562453 were CC (49.0%), CT (46.9%) and TT (4.1%) in the HAPH 
      group, and the locus's genotype and frequencies were CC (76.9%), CT (17.9%) and 
      TT (5.1%) in the control group. The alleles and frequencies of rs1562453 were C 
      (72.4%) and T (27.6%) in the HAPH group, and the locus's alleles and frequencies 
      were C (85.9%) and T (14.1%) in the control group. Their genotypes and alleles 
      frequencies were of significant difference between the two groups (genotypes 
      P=0.017; allele P=0.031). Meanwhile, The genotype and frequencies of rs1867785 
      were AA (46.9%), AG (46.9%) and GG (6.1%) in the HAPH group, and the locus's 
      genotype and frequencies were AA (74.4%), AG (25.6%) and GG (0.0%) in the control 
      group. The alleles and frequencies of rs1867785 were A (70.4%) and G (29.6%) in 
      the HAPH group, and the locus's alleles and frequencies were A (87.2%) and G 
      (12.8%) in the control group. Their genotypes and alleles frequencies were of 
      significant difference between the two groups (genotypes P=0.020; allele 
      P=0.008). Genotypes frequencies of the rs1562453 and rs1867785 were analyzed by 
      Logistic Regression which showed that the genotypes frequencies of rs1562453 were 
      also of significant difference between two groups (Wald=9.561, P=0.008), CT vs CC 
      (beta=1.720, OR=5.580, P=0.011). Conclusion: The SNPs of rs1562453 in HIF-2alpha gene 
      may be associated with the development of HAPH among Chinese Han population, and 
      individuals with the genotype CT may be more vulnerable to HAPH than those who 
      carry genotype CC, and allele T may be a risk factor for HAPH.
FAU - Yu, Z K
AU  - Yu ZK
AD  - Department of Graduate, College of Qinghai University, Xining 810016, China.
FAU - Han, Y J
AU  - Han YJ
FAU - Chen, D D
AU  - Chen DD
FAU - Zhang, X F
AU  - Zhang XF
FAU - Chang, R
AU  - Chang R
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Za Zhi
JT  - Zhonghua yi xue za zhi
JID - 7511141
RN  - Pulmonary edema of mountaineers
SB  - IM
MH  - Alleles
MH  - *Altitude Sickness
MH  - *Asian People
MH  - China
MH  - *Gene Frequency
MH  - Genotype
MH  - Humans
MH  - *Hypertension, Pulmonary
MH  - *Polymorphism, Single Nucleotide
MH  - Risk Factors
EDAT- 2016/11/18 06:00
MHDA- 2017/10/12 06:00
CRDT- 2016/11/18 06:00
PHST- 2016/11/18 06:00 [entrez]
PHST- 2016/11/18 06:00 [pubmed]
PHST- 2017/10/12 06:00 [medline]
AID - 10.3760/cma.j.issn.0376-2491.2016.40.003 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Za Zhi. 2016 Nov 1;96(40):3213-3217. doi: 
      10.3760/cma.j.issn.0376-2491.2016.40.003.