Department of Obstetrics and Gynecology, Suzhou High Tech Zone People's Hospital, No. 95, Huashan Road, High Tech Zone, Suzhou, 215129, Jiangsu Province, China.
Reprod Sci. 2023 Aug;30(8):2573-2579. doi: 10.1007/s43032-023-01203-1. Epub 2023 Feb 28.
It is widely accepted that kisspeptin plays an integral role in the regulation of reproduction. Genetic variations in the KISS1 gene have been frequently reported to be linked to reproductive diseases, but there is still a lack of data on the association between KISS1 variations and female reproductive disorders. The present study aimed to examine the association of three missense SNPs in the KISS1 gene including rs12998, rs35431622, and rs4889 in association with idiopathic recurrent pregnancy loss (iRPL). A total of 720 individuals were recruited in this study. The DNA from the blood sample was extracted and genotyped using the PCR method. Haplotype and linkage disequilibrium (LD) have also been analyzed. The results of this study suggested that rs12998 G > A and rs4889 C > G had a significant association with iRPL (p < 0.05); while rs35431622 A > G didn't indicate any association with iRPL. A significant association was also found for three haplotypes including C-A-A, G-G-G, and G-G-A in this population. The analysis also showed a significant LD between rs12998 and rs35431622 (P < 0.0005). The rs12998 G > A and rs4889 C > G variants of KISS1 are linked to unexplained recurrent pregnancy loss and may be risk factors for this disease.
人们普遍认为,kisspeptin 在生殖调节中起着重要作用。KISS1 基因的遗传变异经常被报道与生殖疾病有关,但关于 KISS1 变异与女性生殖障碍之间的关联仍缺乏数据。本研究旨在探讨 KISS1 基因中的三个错义 SNP(包括 rs12998、rs35431622 和 rs4889)与特发性复发性妊娠丢失(iRPL)之间的关联。本研究共招募了 720 名个体。从血样中提取 DNA,采用 PCR 方法进行基因分型。还分析了单倍型和连锁不平衡(LD)。本研究结果表明,rs12998 G > A 和 rs4889 C > G 与 iRPL 有显著关联(p < 0.05);而 rs35431622 A > G 与 iRPL 无关联。在该人群中,还发现了三个单倍型(C-A-A、G-G-G 和 G-G-A)与 iRPL 显著相关。分析还显示 rs12998 与 rs35431622 之间存在显著的 LD(P < 0.0005)。KISS1 的 rs12998 G > A 和 rs4889 C > G 变体与不明原因的复发性妊娠丢失有关,可能是该疾病的风险因素。