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JMJD1C 多态性与男孩青春期开始和男性生殖功能有关。

Polymorphisms in JMJD1C are associated with pubertal onset in boys and reproductive function in men.

机构信息

Department of Growth and Reproduction and International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital, DK-2100, Copenhagen, Denmark.

出版信息

Sci Rep. 2017 Dec 8;7(1):17242. doi: 10.1038/s41598-017-17575-9.

DOI:10.1038/s41598-017-17575-9
PMID:29222425
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5722903/
Abstract

JMJD1C, a member of the Jumonji-domain containing histone demethylases protein family, has been associated with levels of sex-hormone binding globulin (SHBG) and testosterone in men, and knock-out rodent models show age-dependent infertility. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) nearby JMJD1C are associated with pubertal onset in boys and with male reproduction. 671 peri-pubertal boys, 1,027 young men, 315 fertile men, and 252 infertile men were genotyped for two JMJD1C SNPs (rs7910927 and rs10822184). rs7910927 and rs10822184 showed high linkage. Boys with the rs7910927 TT genotype entered puberty 3.6 months earlier than their peers (p = 2.5 × 10). In young men, the number of T alleles was associated with decreased levels of SHBG, follicle-stimulating hormone (FSH), testosterone, and testosterone x luteinizing hormone, as well as increased levels of Inhibin B, Inhibin B/FSH ratio, and testis size. No significant associations with semen parameters were observed and the genotype distribution was comparable among fertile and infertile men. In conclusion, genetic variation in the vicinity of JMJD1C had a surprisingly large impact on the age at pubertal onset in boys as well as levels of reproductive hormones and testis size in men, emphasizing the relationship between JMJD1C and reproductive functions.

摘要

JMJD1C 是组蛋白去甲基化酶蛋白家族 Jumonji 结构域的成员，与男性的性激素结合球蛋白 (SHBG) 和睾酮水平有关，敲除啮齿动物模型显示出与年龄相关的不育。本研究的目的是研究 JMJD1C 附近的单核苷酸多态性 (SNP) 是否与男孩的青春期开始以及男性生殖有关。671 名青春期前男孩、1027 名年轻男性、315 名生育男性和 252 名不育男性被检测了两个 JMJD1C SNP（rs7910927 和 rs10822184）的基因型。rs7910927 和 rs10822184 显示出高度的连锁关系。携带 rs7910927 TT 基因型的男孩比同龄人更早进入青春期 3.6 个月（p=2.5×10）。在年轻男性中，T 等位基因的数量与 SHBG、卵泡刺激素 (FSH)、睾酮和睾酮 x 黄体生成素水平降低，以及抑制素 B、抑制素 B/FSH 比值和睾丸大小增加有关。未观察到与精液参数的显著相关性，并且在生育男性和不育男性中，基因型分布相似。总之，JMJD1C 附近的遗传变异对男孩的青春期开始年龄以及男性生殖激素和睾丸大小水平有显著影响，强调了 JMJD1C 与生殖功能的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7424/5722903/1d85f1b9786a/41598_2017_17575_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7424/5722903/02f2a93c7769/41598_2017_17575_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7424/5722903/1d85f1b9786a/41598_2017_17575_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7424/5722903/02f2a93c7769/41598_2017_17575_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7424/5722903/1d85f1b9786a/41598_2017_17575_Fig2_HTML.jpg

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