葡萄糖调节蛋白78基因3'UTR多态性与男性弱精子症的相关性研究  

Asthenozoospermia is not correlated with 3' UTR polymorphisms of the GRP78 gene

作　　者：覃海媚 王荣[2,3] 庞晓霞[1,2] 韦玉霞 凌正宝 陈兴鸿 韦敬锡[1] 王俊利[1] QIN Hai-mei;WANG Rong;PANG Xiao-xia;WEI Yu-xia;LING Zheng-bao;CHEN Xing-hong;WEI Jing-xi;WANG Jun-li(Laboratory of Reproductive Genetics;Graduate School of Youjiang Medical Uni- versity for Nationalities, Baise , Guangxi 533000, China;Department of Laboratory Medicine, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi 533000, China)

机构地区：[1]右江民族医学院附属医院生殖遗传室,广西百色533000 [2]右江民族医学院研究生院,广西百色533000 [3]右江民族医学院附属医院检验科,广西百色533000

出　　处：《中华男科学杂志》2018年第7期596-601,共6页National Journal of Andrology

基　　金：国家自然科学基金(81560461);广西高校右江流域特色民药研究重点实验室(kfkt2017022);广西卫生厅医疗卫生科研课题(Z20170234;Z20170236);广西高等学校千名中青年骨干教师培育计划资助;百色市科学研究与技术开发技术项目(百科20182511);广西教育厅高校中青年教师基础能力提升项目(2018KY0437)~~

摘　　要：目的:探究葡萄糖调节蛋白78(GRP78)基因3'UTR单核苷酸多态性(rs12009、rs1140763和rs16927997位点)与弱精子症的关系。方法:选取400例弱精子症不育男性为弱精子症组,400例有生育史的健康男性为对照组,运用多重单碱基延伸PCR(SNa Pshot)对所有研究对象GRP78基因的rs12009、rs1140763和rs16927997位点进行基因分型,再分析此3个位点多态性与男性弱精子症的相关性。结果:弱精子症组和对照组的前向运动精子百分率分别为(20.09±8.18)%、(57.16±13.45)%,两者差异具有统计学意义(P<0.01)。GRP78基因rs12009和rs1140763存在CC、CT、TT 3种基因型和C、T 2种等位基因;rs16927997存在GG、GA、AA 3种基因型和G、A 2种等位基因。在弱精子症组中,rs12009位点C、T等位基因频率分别为47.3%、52.7%;rs1140763位点C、T等位基因频率分别为52.0%、48.0%;rs16927997位点G、A等位基因频率分别为4.4%、95.6%。而在对照组中,rs12009位点C、T等位基因频率分别为44.3%、55.7%;rs1140763位点C、T等位基因频率均为50.0%;rs16927997位点G、A等位基因频率分别为6.0%、94.0%。3个位点基因型及等位基因频率在弱精子症组和对照组中的分布差异均无统计学意义(P>0.05);进一步单倍型分析,发现在弱精子症组和对照组中主要为C-C-A、T-C-G、T-T-A 3种单倍型,但也未发现单倍型与男性弱精子症存在相关性。结论:GRP78基因3'UTR多态性与男性弱精子症的发病风险不存在相关性。Objective： To investigate the correlation of the single nucleotide polymorphisms（ SNPs） rs12009,rs1140763 and rs16927997 in the 3＇-untranslated region（ 3＇ UTR） of the glucose-regulated protein 78（ GRP78） gene with the risk of male asthenozoospermia（ AZS）. Methods： We included 400 AZS patients in the AZS group and another 400 fertile men as normal controls. Using the SNa Pshot technique,we genotyped the rs12009,rs1140763 and rs16927997 polymorphisms in the 3＇ UTR of the GRP78 gene in all the male subjects and analyzed the association of the three SNPs with AZS. Results： The percentage of progressively motile sperm was significantly lower in the AZS group than in the normal controls（ [20. 09 ± 8. 18] % vs [57. 16 ±13. 45] %,P〈0. 01）. Three genotypes of CC,CT and TT and 2 alleles of C and T were found in rs12009 and rs1140763 of the GRP78 gene,and another three genotypes of GG,GA and AA and two alleles of G and A were observed in rs16927997. There were no statistically significant differences between the control and AZS groups in the frequencies of the C and T alleles in rs12009（ 44. 3% vs47. 3% and 55. 7% vs 52. 7%,P〉0. 05） or rs1140763（ 50. 0% vs 52. 0% and 50. 0% vs 48. 0%,P〉0. 05） or those of the G and A alleles in rs16927997（ 6. 0% vs 4. 4% and 94. 0% vs 95. 6%,P〉0. 05）,nor in the genotypes and allele frequencies of the3 polymorphisms（ P〉0. 05）. Furthermore,three haplotypes of C-C-A,T-C-G and T-T-A were observed in the male subjects but showed no evident correlation between the AZS and normal control groups. Conclusion： The polymorphisms in the 3＇ UTR of the GRP78 gene are not correlated with the risk of male asthenozoospermia.

关 键 词：葡萄糖调节蛋白78基因 弱精子症 多态性 3'非翻译区 

分 类 号：R698.2[医药卫生—泌尿科学] R321.1[医药卫生—外科学]