Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men

Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men
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Y 染色体 gr/gr 亚缺失与日本普通年轻男性的精液质量较低有关,但与有生育能力的日本男性无关

DOI:
10.1095/biolreprod.114.118810
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发表时间:
2014
期刊:
影响因子:
3.6
通讯作者:
Nakahori Y
Nakahori Y
中科院分区:
生物学2区
文献类型:
--
作者:
Sato Y;Iwamoto T;Shinka T;Nozawa S;Yoshiike M;Koh E;Kanaya J;Namiki M;Matsumiya K;Tsujimura A;Komatsu K;Itoh N;Eguchi J;Yamauchi A;Nakahori Y

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一些病例对照研究调查了Y染色体单倍群或缺失是否与生精失败有关。然而,在一般人群中,Y染色体单倍群或缺失与精液质量之间的关系尚未阐明。在这项研究中,我们评估了791名有生育能力的日本男性和1221名日本普通人群中的年轻男性的Y染色体单倍群或缺失与精液参数的关系。我们发现D2单倍群(M55谱系)在普通人群中与较低的精液参数显著相关,尤其是总活动精子数(P= 0.00051, β = - 0.097),而在可育男性中则没有。此外,我们发现gr/gr亚缺失与精液质量有关,特别是与普通人群中男性精子活力(P= 0.00041, β = - 3.14)和总活动精子数量(P= 0.00031, β = - 0.099)的下降密切相关,而与可生育男性无关。对日本可生育男性和日本普通人群进行的综合分析表明,D2单倍群(M55谱系)和gr/gr亚缺失与精子活力降低密切相关(P= 0.00056, β =−2.71,P= 7.7 × 10−5,β =−3.05),O2b1单倍群与精子活力升高密切相关(P= 0.00089, β = 2.94)。这些观察结果进一步支持了gr/gr亚缺失降低精子活力从而可能导致男性不育的观点。
Several case-control studies have investigated whether Y chromosome haplogroups or deletions are associated with spermatogenic failure. However, the relationships between Y chromosome haplogroups or deletions and semen quality in general population have not been elucidated. In this study, we assessed relationships between Y chromosome haplogroups or deletions and semen parameters in 791 fertile Japanese men and 1221 young men from the general Japanese population. We found that the haplogroup D2 (M55 lineage) was significantly associated with lower semen parameters, especially total motile sperm count (P= 0.00051, beta = −0.097), in men from the general population but not in fertile men. In addition, we found that the gr/gr subdeletion was associated with semen quality and in particular, strongly associated with decreased sperm motility (P= 0.00041, beta = −3.14) and total motile sperm count (P= 0.00031, beta = −0.099) in men from the general population but not in fertile men. The combined analysis of fertile Japanese men and men from the general Japanese population showed that the haplogroup D2 (M55 lineage) and the gr/gr subdeletion were strongly associated with reduced sperm motility (P= 0.00056, beta = −2.71, andP= 7.7 × 10−5, beta = −3.05, respectively) and that haplogroup O2b1 was strongly associated with elevated sperm motility (P= 0.00089, beta = 2.94). These observations add further support for the view that the gr/gr subdeletion diminishes sperm motility that consequently may result in male infertility.