宁夏回、汉族人群HSD17B1基因单核苷酸多态性的分布特征
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摘要
目的探讨HSD17B1基因三个SNPs位点rs605059、rs676387、rs2676531在宁夏回、汉族人群中的分布特征。方法应用Taq Man基因分型技术分析822例(回族410例,汉族412例)HSD17B1基因三个SNPs位点等位基因频率和基因型频率。结果宁夏回、汉族人群HSD17B1基因rs605059、rs676387位点基因型及等位基因频率分布差异无统计学意义(P>0.05);而rs2676531位点基因型及等位基因频率分布在回、汉族间差异有统计学意义(P<0.05);宁夏人群各多态性位点基因型及等位基因频率总体分布与HAPMAP扫描的四个地区人群结果比较,rs605059、rs2676531位点与欧洲人群基因型及等位基因频率总体分布差异有统计学意义(P<0.05);rs676387、rs2676531位点与非洲人群基因型及等位基因频率总体分布差异有统计学意义(P<0.05)。结论宁夏回、汉族人群HSD17B1基因rs605059、rs676387位点基因型及等位基因频率分布特征相同;HSD17B1的基因型及等位基因频率总体分布存在种族差异。
Objective To investigate the distribution characteristics of rs605059,rs676387 and rs2676531 of HSD17 B1 gene in Ningxia Hui and Han population. Methods The allele and genotype frequencies for three SNPs of all 822 cases(410 cases from the Hui and 412 cases from the Han)were analyzed by Taqman Gene Typing. Results There is no significant difference in rs605059 and rs676387 between Hui and Han population(P>0.05),while rs2676531 is significantly different(P<0.05). After comparingwith HAPMAP allele and genotype frequencies of four regions it has been found that results of rs605059 and rs2676531 are significantly different from European population(P<0.05),whereas results of rs676387 and rs2676531 are significantly different from African population(P<0.05). Conclusion It is shown that the allele and genotype frequencies distribution characteristics of HSD17 B1 gene rs605059 and rs676387 are identical between Hui and Han population in Ningxia,however,there are ethnic differences in overall distribution of HSD17 B1 gene.
Objective To investigate the distribution characteristics of rs605059,rs676387 and rs2676531 of HSD17 B1 gene in Ningxia Hui and Han population. Methods The allele and genotype frequencies for three SNPs of all 822 cases(410 cases from the Hui and 412 cases from the Han)were analyzed by Taqman Gene Typing. Results There is no significant difference in rs605059 and rs676387 between Hui and Han population(P>0.05),while rs2676531 is significantly different(P<0.05). After comparingwith HAPMAP allele and genotype frequencies of four regions it has been found that results of rs605059 and rs2676531 are significantly different from European population(P<0.05),whereas results of rs676387 and rs2676531 are significantly different from African population(P<0.05). Conclusion It is shown that the allele and genotype frequencies distribution characteristics of HSD17 B1 gene rs605059 and rs676387 are identical between Hui and Han population in Ningxia,however,there are ethnic differences in overall distribution of HSD17 B1 gene.
引文
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[2]Adamski J,Jakob FJ.A guide to 17beta-hydroxysteroid dehydrogenases[J].Mol Cell Endocrinol,2001,171(1-2):1-4.
[3]Aka JA,Mazumdar M,Chen CQ,et al.17beta-hydroxysteroid dehydrogenase type 1 stimulates breast cancer by dihydrotestosterone inactivation in Addition to estradiol production[J].Mol Endocrinol,2010,24(4):832-845.
[4]刘博,马伟,陈博,等.HSD17B1和HSD17B2基因多态性与四川汉族人群肝癌的关联性研究[J].河南科技大学学报(医学版),2014,32(3):164-166.
[5]Feigelson HS,Cox DD,Cann HM,et al.Haplotype analysis of the HSD17B1 gene and risk of breast cancer:a comprehensive approach to multicenter analyses of prospective cohort studies[J].Cancer Res,2006,66:2468-2475.
[6]Cong RJ,Huang ZY,Cong L,et al.Polymorphisms in genes HSD17B1 and HSD17B2 and uterine leiomyoma risk in Chinese women[J].Arch Gynecol Obstet,2012,286:701-705.
[7]Lee IW,Kuo PH,Su MT,et al.Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility[J].Hum Reprod,2011,26:1585-1596.
[8]Chen ZT,Wang IJ,Liao YT,et al.Polymorphisms in steroidogenesis genes,sex steroid levels,and high myopia in the Taiwanese population[J].Mol Vis,2011,17:2297-2310.
[9]Ntostis P,Agiannitopoulos K,Tsaousis G,et al.Evidence for association of the rs605059 polymorphism of HSD17B1 gene with recurrent spontaneous abortions[J].J Matern Fetal Neonatal Med,2015,28(18):2250-2253.
[10]He W,Gauri M,Li T,et al.Current knowledge of the multifunctional17β-hydroxysteroid dehydrogenase type1(HSD17B1)[J].Gene,2016,588(1):54-61.
[11]杜若甫.中国人群体遗传学[M].北京:科学出版社,2004:14-15.
[12]Xiyan M,Xue D,Kui Y,et al.Association between HSD17B1 rs605059 polymorphisms and the risk of uterine diseases:a systemic review and meta-analysis[J].Int J Clin Exp Pathol,2015,8(6):6012-6018.