Kisspeptin has been identified as a key regulatory protein in the release of gonadotropin-releasing hormone (GnRH), which subsequently increases gonadotropin secretion during puberty to establish reproductive function and regulate the hypothalamic–pituitary–gonadal axis. The effects of variants in the KISS1, KISS1R, and GNRHR genes and their possible association with assisted reproduction outcomes remain to be elucidated. In this study, we used next-generation sequencing to investigate the associations of the genetic diversity at the candidate loci for KISS1, KISS1R, and GNRHR with the hormonal profiles and reproductive outcomes in 86 women who underwent in vitro fertilization treatments. Variants in the KISS1 and KISS1R genes were associated with luteinizing hormone (rs35431622:T>C), anti-Mullerian hormone (rs71745629delT), follicle-stimulating hormone (rs73507529:C>A), and estradiol (rs73507527:G>A, rs350130:A>G, and rs73507529:C>A) levels, as well as with reproductive outcomes such as the number of oocytes retrieved (s35431622:T>C), metaphasis II oocytes (rs35431622:T>C), and embryos (rs1132506:G>C). Additionally, variants in the GNRHR UTR3′ (rs1038426:C>A, rs12508464:A>C, rs13150734:C>A, rs17635850:A>G, rs35683646:G>A, rs35610027:C>G, rs35845954:T>C, rs17635749:C>T, and rs7666201:C>T) were associated with low prolactin levels. A conjoint analysis of clinical, hormonal, and genetic variables using a generalized linear model identified two variants of the KISS1 gene (rs71745629delT and rs1132506:G>C) that were significantly associated with hormonal variations and reproductive outcomes. The findings suggest that variants in KISS1, KISS1R, and GNRHR genes can modulate hormone levels and reproductive outcomes.

中文翻译：

---

Kisspeptin-GnRH途径中的变体调节激素谱和生殖结果。

Kisspeptin已被确定为释放促性腺激素释放激素（GnRH）的关键调节蛋白，其随后在青春期增加促性腺激素的分泌，以建立生殖功能并调节下丘脑-垂体-性腺轴。在变体的影响KISS1，KISS1R，以及促性腺激素释放激素受体基因及其与辅助生育的结果可能的关联仍有待澄清。在这项研究中，我们使用了新一代测序的候选基因的研究遗传多样性的协会KISS1，KISS1R，以及促性腺激素释放激素受体与86名妇女谁接受的激素水平和生殖结局体外施肥治疗。变体在KISS1和KISS1R，抗苗勒激素（rs71745629delT），促卵泡激素（rs73507529：C> A），和雌二醇（rs73507527：G> A，rs350130：基因与促黄体激素（T> C ^ rs35431622）相关：A> G和rs73507529：C> A）水平，以及生殖结果，例如回收的卵母细胞数（s35431622：T> C），II期卵母细胞（rs35431622：T> C）和胚胎（rs1132506） ：G> C）。此外，GNRHR中的变体UTR3'（rs1038426：C> A，rs12508464：A> C，rs13150734：C> A，rs17635850：A> G，rs35683646：G> A，rs35610027：C> G，rs35845954：T> C，rs17635749：C> T和rs7666201：C> T）与催乳素水平低相关。使用所识别的的两个变体一个广义线性模型的临床，激素和遗传变量的联合分析KISS1基因（rs71745629delT和rs1132506：g>的C）的是分别用显著激素改变和生殖结果相关联。这些发现表明，KISS1，KISS1R和GNRHR基因的变异体可以调节激素水平和生殖结果。