Lack of replication of four candidate SNPs implicated in human male fertility traits: a large-scale population-based study
Lack of replication of four candidate SNPs implicated in human male fertility traits: a large-scale population-based study
复制标题
与人类男性生育力特征相关的四个候选 SNP 缺乏复制：一项基于人群的大规模研究
DOI：
10.1093/humrep/dev081
复制
发表时间：
2015
影响因子：
6.1
通讯作者：
Teruaki Iwamoto
中科院分区：
文献类型：
--
作者：
Youichi Sato;Atsushi Tajima;Kouki Tsunematsu;Shiari Nozawa;Miki Yoshiike;Eitetsue Koh;Jiro Kanaya;Mikio Namiki;Kiyomi;Matsumiya;Akira Tsujimura;Kiyoshi Komatsu;Naoki Itoh;Jiro Eguchi;Issei Imoto;Aiko Yamauchi;Teruaki Iwamoto
研究问题在美国一个Hutterite群体的全基因组关联研究（GWAS）中鉴定的人类男性生育性状的四个候选基因座（rs7867029，rs 12870438，rs7174015和rs724078）是否与日本群体的精液质量性状相关？概要回答四个单核苷酸多态性（SNP）rs7867029，rs 12870438，rs7174015和rs724078在两个日本男性队列的荟萃分析中与精液参数无关。在来自美国芝加哥的不同种族的男性中，与美国Hutterite人群的GWAS中的家庭规模或出生率相关的SNPs（rs7867029，rs 12870438，rs7174015和rs724078）与精液参数相关。研究对象/材料、环境、方法我们在两个队列中进行了一项重复研究，以评估SNPs rs7867029、rs 12870438、rs7174015和rs724078是否与精子浓度、精液量、精子总数、活动精子总数或精子活力。采用限制性片段长度多态性PCR检测rs 12870438单核苷酸多态性，采用TaqMan探针检测rs7174015、rs724078和rs7867029单核苷酸多态性。rs7174015和rs724078在两个日本男性队列的荟萃分析中显示出与精液参数的显著相关性。局限性，排除的原因在Hutterite GWAS中鉴定的仅四个SNP被检查与日本人群中精液质量性状的相关性。此外，本发明还提供了一种方法，研究结果的更广泛意义在样本量较大的人群中，为了了解特定基因对精液质量的贡献，有必要使用一组标记的SNP进行基因座作图研究。本研究得到日本厚生省（1013201）（to T.I.）的部分支持，科学研究补助金（C）（23510242）（发给助理署长）来自日本科学促进会、欧洲联盟（BMH 4-CT 96 -0314）（致T.I.），和武田科学基金会（致A.Ta.）。没有一位作者有任何利益冲突需要声明。
STUDY QUESTIONAre the four candidate loci (rs7867029, rs12870438, rs7174015 and rs724078) for human male fertility traits, identified in a genome-wide association study (GWAS) of a Hutterite population in the USA, associated with semen quality traits in a Japanese population?SUMMARY ANSWERThe four single nucleotide polymorphisms (SNPs) rs7867029, rs12870438, rs7174015 and rs724078 have no association with semen parameters in a meta-analysis of two Japanese male cohorts.WHAT IS KNOWN ALREADYFour (rs7867029, rs12870438, rs7174015 and rs724078) of the SNPs associated with family size or birth rate in the GWAS of a Hutterite population in the USA were associated with semen parameters in ethnically diverse men from Chicago, USA.STUDY DESIGN, SIZE, DURATIONThis is a replication study in a total of 2015 Japanese subjects, including 791 fertile men and 1224 young men from the general population.PARTICIPANTS/MATERIALS, SETTING, METHODSWe performed a replication study in two cohorts to assess whether the SNPs rs7867029, rs12870438, rs7174015 and rs724078 are associated with sperm concentration, semen volume, total sperm numbers, total motile sperm numbers or sperm motility. The rs12870438 SNP was detected by restriction fragment length polymorphism PCR while rs7174015, rs724078 and rs7867029 SNPs were genotyped using TaqMan probes.MAIN RESULTS AND THE ROLE OF CHANCEThis study indicated that none of the four SNPs rs7867029, rs12870438, rs7174015 and rs724078 displayed a significant association with semen parameters in the meta-analysis of two Japanese male cohorts.LIMITATIONS, REASONS FOR CAUTIONOnly four SNPs identified in the Hutterite GWAS were examined for associations with semen quality traits in a Japanese population. In addition, the linkage disequilibrium structures around the testing markers were different between ethnic groups.WIDER IMPLICATIONS OF THE FINDINGSLocus mapping studies using a set of tagging SNPs across the loci will be necessary in populations with larger sample sizes in order to understand the contribution of specific genes to semen quality.STUDY FUNDING/COMPETING INTEREST (S)This study was supported in part by the Ministry of Health and Welfare of Japan (1013201) (to T.I.), Grant-in-Aids for Scientific Research (C) (23510242) (to A.Ta.) from the Japan Society for the Promotion of Science, the European Union (BMH4-CT96-0314) (to T.I.), and the Takeda Science Foundation (to A.Ta.). None of the authors has any competing interests to declare.