The Relationship Between Hypoxia In Duced Factor 2 Alpha Genotype With High Altitude Pulmonary Hypertension In Tibetans

Objective To investigate the relationship between polymorphism of hypoxia ind ucible factor 2 alpha gene locus of 14 SNP rs11125068、rs1867785、rs7571879、rs10193827、rs13419896、rs2881324、rs1562453、rs7589621、rs4953360 、rs4953361、rs7594912、rs11675441、rs7571218、rs7598371 and the susceptibility to high altitude pulmonary hypertension in high altitude Tibetan population.Methods Using Doppler ultrasound technique for the determination of tricuspid regurgitant velocity, the Bernoulli equation evaluates pulmonary artery systolic pressure, according to the pulmonary artery systolic pressure, the patients were divided into 27 patients with pulmonary hypertension, mean pulmonary artery systolic pressure(54.96 ± 5.15) mm Hg, the control group 44 cases, mean pulm onary artery systolic pressure(22.45 ± 3.81) mm Hg, collect EDTA anticoagulan t, isolate the white cell layer by centrifugation,and then use QIAGEN compan y DNA kit to extract genomic DNA, then use ABI 3730 XL sequencing instru ment for the determination of polymorphism of hypoxia inducible factor 2 alph a gene locus of 14 SNP rs11125068、rs1867785、rs7571879、rs10193827、rs13419896、rs2881324、rs1562453、rs7589621、rs4953360 、rs4953361、rs7594912、rs11675441、rs7571218、rs7598371,and then use Sequence Mutation Detector software to analyze the DNA sequence and determine the genotype of each loc us.Results It showed no significant difference between genotype and allele freque ncy of 11 SNP of hypoxia inducible factor 2α gene between high altitude pul monary hypertension and the control groups(P>0.05).Rs1867785 locus of high altitude pulmonary hypertension group and control group is detected GG, GA and AA genotypes, the frequency distribution of three genotypes GG, the GA a nd AA of rs1867785 locus of high altitude pulmonary hypertension group is 7.4% and 55.6%, 37.0%, A,G allele frequencies are 64.8%, 35.2%, GA genotyp e dominates. The frequency distribution of three genotypes GG, the GA and A A of rs1867785 locus of the control group is 2.3%, 25%, 72.7%, A, G allele frequencies were 85.2%, 14.8%, AA genotype is dominant. There were signific ant differences among the three kinds of genotype frequencies of rs1867785 lo cus between the groups(P=0.01), G allele frequency of high altitude pulmonar y hypertension group is significantly higher than that of the control group(P=0.01). The pulmonary artery systolic blood pressure and oxygen saturation, hem atocrit, hemoglobin has no obvious correlation(P>0.05).Conclusion 11 locus of hypoxia inducible factor 2α gene rs11125068, rs7571879, rs10193827, rs13419896, rs1562453, rs7589621, rs4953360, rs4953361, rs7594912, rs11675441, rs7571218 genotype and allele each showed no significant re lationship with pulmonary hypertension. The polymorphism of locus of rs1867785 gene associated with susceptibility to high altitude pulmonary hypertension, the risk of carrying GA genotype of the Tibetan plateau people suffering from pulmonary hypertension may be higher than these carrying AA genotype, the G allele may be susceptibility alleles of high altitude pulmonary hypertension.