期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

转录因子Ets差异基因5(ETV5)基因多态性与非梗阻性无精子症相关性研究 被引量：1

Relationship of Ets Variant Gene 5 (ETV5) Gene Variants with Non-obstructive Azoospermia in Chinese Population
原文传递
导出
摘要 目的:探讨转录因子Ets差异基因5(ETV5)基因多态性与非梗阻性无精子症的易感性的相关性。方法:应用Sequenom MassArray质谱阵列技术对368例已生育的汉族男性人群(对照组)和361例汉族男性非梗阻性无精子症(病例组)ETV5基因的5个标签单核苷酸多态(single nucleotide polymorphism,SNP)位点(rs12631658,rs6444106,rs7430047,rs7433760,rs9824882)进行基因型检测。应用Plink1.07软件对数据资料进行统计分析,比较对照组与病例组最小等位基因频率(MAF)及基因型差异,运用Haploview软件对ETV5基因进行单体型分析。结果:ETV5基因5个标签SNP的等位基因频率、基因型分布组间比较均无统计学差异(P>0.05),进一步的单体型分析亦未显示有统计学差异(P>0.05)。结论:ETV5基因5个标签SNP位点多态性与汉族男性非梗阻性无精子症的发生可能不相关。 Objective： To investigate the relationship of Ets variant gene 5 （ETV5） gene polymorphism with the risk of non-obstructive azoospermia （NOA） in Chinese population. Methods： A total of 361 cases with idiopathic NOA, and 368 fertile controls were selected. This study genotyped 5 single-nucleotide polymorphisms （SNPs） （rs12631658, rs6444106, rs7430047, rs7433760, rs9824882） in ETV5 using Sequenom iplex. Allele frequencies and genotype analysis between control group and case group were compared by using Plink 1.07 software. Haplotype analysis was studied by Haploview Software. Results： The allele frequencies of the 5 SNPs were not statistically different between case group and control group as well as the genotype distribution （P〉0.05）. Similarly, no difference was observed between case group and control group in haplotype analysis （P〉0.05）. Conclusion： The five SNPs of ETV5 may not be associated with NOA in Chinese population.
作者 宋兵 贺小进 姚嗣会 杜卫东 张妍 阮健 吴欢 查醒 周伏圣 曹云霞
机构地区 安徽医科大学第一附属医院生殖医学中心 安徽省庐江县中医院普外科 安徽医科大学省部共建重要遗传病基因资源利用重点实验室
出处 《生殖与避孕》 CAS CSCD 2014年第3期187-192,共6页 Reproduction and Contraception
基金 国家自然基金项目 项目编号:81300538
关键词 不育症 非梗阻性无精子症(NOA) ETV5基因 单核苷酸多态性(SNP) sterility non-obstructive azoospermia （NOA） ETV5 gene single nucleotide polymorphisms （SNPs）
分类号 R698.2 [医药卫生—泌尿科学]
  • 相关文献

参考文献16

  • 1Dyer SJ. International estimates on infertility prevalence and treatment seeking: potential need and demand for medical care. Hum Reprod, 2009, 24(9):2379-80.
  • 2Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med, 2008, 14(11): 1197,213.
  • 3Kransz C, Giachini C. Genetic risk factors in male infertility. Arch Androl, 2007, 53(3): 125-33.
  • 4Hu Z, Xia Y, Guo X, et al. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat Genet, 2011, 25, 44(2):183-6.
  • 5He XJ, Ruan J, Du WD, et al. PRM1 variant rs35576928 (Arg>Ser) is associated with defective spermatogenesis in the Chinese Han population. Reprod Biomed Online, 2012, 25 (6):627-34.
  • 6Ruan J, He XJ, Du WD, et al. Genetic variants in TEX15 gene conferred susceptibility to spermatogenic failure in the Chinese Han population. Reprod Sci, 2012, 19(11): 1190-6.
  • 7Chert C, Ouyang W, Grigura V, et al. ERM is required for transcriptional control of the spermatogonial stem cell niche. Nature, 2005, 436(7053): 1030-4.
  • 8Schlesser HN, Simon L, Hofmann MC, et al. Effects of ETV5 (ets variant gene 5) on testis and body growth, time course of spermatogonial stem cell loss, and fertility in mice. Biol Reprod, 2008, 78(3):483-9.
  • 9Wu X, Goodyear SM, Tobias JW, et al. Spermatogonial stem cell self-renewal requires ETV5-mediated downstream activation of Brachyury in mice. Biol Reprod, 2011, 85(6): 1114-23.
  • 10Morrow CM, Hostetler CE, Griswold MD, et al. ETV5 is required for continuous spermatogenesis in adult mice and may mediate blood testes barrier function and testicular immune privilege. Ann N Y Acad Sci, 2007, 1120:144-51.

二级参考文献11

  • 1De Kretser DM, Baker HW. Infertility in men: recent advances and continuing controversies. J Clin Endocrinol Metab, 1999, 84(10):3443-50.
  • 2Sadeghi-Nejad H, Oates RD. The Y chromosome and male infertility. Curr Opin Urol, 2008, 18(6):628-32.
  • 3Hayashi K, Yoshida K, Matsui Y. A histone H3 methyltransferase controls epigenetic events required for meiotic prophase. Nature, 2005, 438(7066):374-8.
  • 4Miyamoto T, Koh E, Sakugawa N, et al. Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest. J Assist Reprod Genet, 2008, 25(11-12):553-7.
  • 5Irie S, Tsujimura A, Miyagawa Y, et al. Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia. J Androl,2009, 30(4):426-31.
  • 6谷翊群,陈振文,卢文红,等(译).人类精液检查与处理实验室手册.5版.北京:人民卫生出版社.2010.
  • 7Han JW, Zheng HF, Cui Y, et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythemat0sus. Nat Genet, 2009, 41(11):1234-7.
  • 8Buard J, Barthes P, Grey C, et al. Distinct histone modifica- tions define initiation and repair of meiotic recombination in the mouse. EMBO J, 2009, 28(17):2616-24.
  • 9Smagulova F, Gregoretti IV, Brick K, et al. Genome-wide analysis reveals novel molecular features of mouse re- combination hotspots. Nature, 2011, 472(7343):375-8.
  • 10Baudat F, Buard J, Grey C, et al. PRDM9 is a major determinant of meiotic recombination hotspots in hu- mans and mice. Science, 2010, 327(5967):836-40.

共引文献1

同被引文献14

  • 1Dyer S J. International estimates on infertility prevalence and treat- ment seeking: potential need and demand for medical care [ J ]. Hum Reprod, 2009, 24 (9) :2379 - 80.
  • 2Nuti F, Krausz C. Gene polymorphisms/mutations relevant to ab- normal spermatogenesis [ J]. Reprod Biomed Online, 2008, 16 (4) :504 - 13.
  • 3Hu Z, Xia Y, Guo X, et al. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoosper- mia[J]. Nat Genet, 2011, 44(2) :183 -6.
  • 4He X J, Ruan J, Du W D, et al. PRM1 variant rs35576928 (Arg > Ser) is associated with defective spermatogenesis in the Chinese Han population [J ]. Reprod B iomed Online, 2012, 25 ( 6 ) : 627 - 34.
  • 5Ruan J, He X J, Du W D, et al. Genetic variants in TEX15 gene conferred susceptibility to spermatogenie failure in the Chinese Han population[ J]. Reprod Sci, 2012, 19 ( 11 ) : 1190 - 6.
  • 6He X J, Song B, Du W D, et al. CREM variants rs4934540 and rs2295415 conferred susceptibility to nonobstruetive azoospermia risk in the Chinese population[ J]. Biol Reprod, 2014, 91 (2) : 52.
  • 7Song B, He X J, Du W D, et al. Genetic study of Hormadl and Hormad2 with non-obstructive azoospermia patients in the male Chinese population[ J]. J Assist Reprod Genet, 2014, 31 (7) : 873 - 9.
  • 8La Salle S, Palmer K, O'Brien M, et al. SPATA22, a novel verte- brate-specific gene, is required for meiotic progress in mouse germ eells[J]. Biol Reprod, 2012, 86(2) :45.
  • 9Ishishita S, Matsuda Y, Kitada K. Genetic evidence suggests that SPATA22 is required for the maintenance of Rad51 foci in mamma- lian meiosis[J]. Sci Rep, 2014, 4:6148.
  • 10Aston K I, Krausz C, Laface I, et al. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent [ J ]. Hum Reprod, 2010, 25(6) :1383 -97.

引证文献1

二级引证文献1

生殖与避孕
2014年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部