| Objective:In this paper,by studying the function of Erythropoietin(EPO)gene with Single nucleotide polymorphisms(SNPs),in Yunnan Naxi Nationality,To explore the relationship between erythropoietin(EPO)gene polymorphism and the adaptability of Naxi people to low oxygen environment in plateau area,hoping to provide the basis for Naxi people to adapt to low oxygen environment in plateau.Methods:A control study was conducted to select 265 Naxi people living in the plateau area of Lijiang City,Yunnan Province(1465.35m-3212.04 m above sea level).Data of age,sex,Red Blood Cell count(RBC),Hemoglobin concentration(HGB),Hematocrit(HCT),and Mean Corpuscular Volume(Mean Corpuscular Volume)were collected from the subjects.MCV),Oxygen Saturation of Blood(Sa O2),Erythropoietin(EPO)and other general test indicators such as clinical data.Three SNPs loci(rs1554393458,rs1554393463,rs1617640)of EPO gene were genotyped using SNa Pshot technology platform developed by ABI.The distribution differences of alleles,genotypes and genetic models were analyzed by chi-square test,T test and Logistic regression analysis.Results:1.Comparison of general conditions(1)According to the two altitudinal distributions,the two groups were divided into the high altitude group and the moderate altitude group.There was no statistically significant difference in gender distribution between the high altitude group and the moderate altitude group(P> 0.05);There were statistically significant differences in age distribution,red blood cell count(RBC),hemoglobin concentration(HGB),hematocrit(HCT)and oxygen saturation(Sa O2)between the high altitude group and the moderate altitude group(P < 0.05).(2)Groups were divided according to hemoglobin elevation: there was no statistical significance in age distribution,smoking or not between the elevated hemoglobin group and the non-elevated hemoglobin group(P> 0.05);There were statistically significant differences in gender,red blood cell count(RBC),hematocrit(HCT)and mean red blood cell volume(MCV)of blood oxygen saturation(Sa O2)between increased hemoglobin group and non-increased hemoglobin group(P < 0.05).2.(1)The genotyping distribution of three EPO loci(rs1554393458,rs1554393463,rs1617640)was consistent with Hardy-Weinberg(HWE)law of genetic balance(P>0.05),indicating that the group representation of the samples included in this study is good.(2)After detection by SNa Pshot molecular biology technology,the deletion and insertion(Delins)mutations of CC multiple alleles were found at rs1554393458 of EPO gene in some subjects in this study.GG Delins variants were found at rs1554393458 of EPO genes in some subjects,and single nucleotide variants(SNV)were found at rs1617640 of EPO variants in all subjects.(3)There were no significant differences in genotype distribution and sex distribution of EPO gene rs1554393458,rs1554393463 and rs1617640 in the group of hemoglobin(P>0.05).There was no significant difference in the genotype distribution and hemoglobin distribution of rs1554393458 and rs1554393463 in the two elevation groups(P>0.05),but rs1617640 genotype distribution and hemoglobin distribution were significantly different(P<0.01)(4)Correlation analysis of rs1617640 polymorphism of EPO gene with the risk of hemoglobin elevation: The risk of AA genotype with hemoglobin elevation in the high altitude group was 10.314 times higher than that in the middle altitude group(OR:10.314,95.0% CI:4.515-23.560,p<0.001);The risk of AC genotypes with elevated hemoglobin was 10.179 times higher in the high altitude group than in the middle altitude group(OR:10.179,95.0%CI:3.217-14.252,p<0.001);The increased risk of CC genotypes in the high altitude group was 35 times higher than that in the middle altitude group(OR:35.000,95.0%CI:1.781-687.673,p=0.019).The risk of allele A in the high altitude group was 9.577 times higher than that in the middle altitude group(OR:9.577,95.0% CI:5.753-15.944,p<0.001);The risk of allele C in the high altitude group was 18.643 times higher than that in the middle altitude group(OR:18.643,95.0% CI:6.265-55.477,p<0.001);Conclusion:1.There are genetic polymorphisms in rs1554393458,rs1554393463 and rs1617640 of EPO gene in Naxi population.The polymorphism expression of rs1554393458 and rs1554393463 has not been found to be clearly related to altitude and hemoglobin concentration,but the polymorphism expression of rs1617640 is related to altitude and hemoglobin concentration.2.The A/C allele of rs1617640 locus of EPO gene was related to the adaptability of Naxi people living in the trans-plateau area of Yunnan Province to low oxygen environment.The risk of the C allele in the high altitude group was about 18 times higher than that in the middle altitude group,and the risk of the C allele in raising HGB was about 2 times higher than that of the A allele.The risk of HGB elevation in CC genotype carriers in high altitude group was about 3 times higher than AA and AC genotype carriers. |
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