BACKGROUND Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder, affecting millions of women worldwide. The role of genetic polymorphisms of the KISS1 gene on the development of PCOS is still obscure. This study was designed to investigate the probable influence of KISS1 gene polymorphisms on PCOS and its associated variables: BMI, waist-hip ratio, kisspeptin, LH, FSH, and LH-FSH ratio. METHODS The study comprised 104 PCOS women and 109 controls, with age ranging from 19 to 36 years. BMI, waist-hip ratio, and circulating levels of kisspeptin, LH, and FSH were measured. DNA was extracted, and genotyping of the KISS1 gene was carried out by nucleotide sequencing. The PCOS-associated variables were analyzed in different genotypes of single nucleotide polymorphisms (SNPs) of the KISS1 gene. RESULTS The values of waist-hip ratio (WHR), LH, and LH-FSH ratio were significantly higher in PCOS women than controls. BMI, kisspeptin, and FSH levels exhibited no significant difference between the groups. Six novel SNPs of KISS1 gene were identified. Three: rs372790354G > A, rs12998G > A, and rs35431622A > T were investigated. Among these SNPs, the genotype and allele frequencies of rs372790354 showed significant association with PCOS (GA: p = 0.018, AA: p = 0.022, mutant allele-A: p = 0.021) and the G allele was protective. The values of LH, kisspeptin, and WHR of PCOS women were significantly influenced (p < 0.05) by the AA genotype of rs372790354. The other two SNPs rs12998G > A and rs35431622A > T revealed no significant influence on PCOS and associated variables. Haplotypes were constructed, but there was no significant difference between the patients and controls. CONCLUSION In conclusion, this is the first study, which reports a significant influence of KISS1 gene polymorphism (rs372790354G > A) on PCOS and its associated variables. However, more extensive research is necessary to confirm these findings.

中文翻译：

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KISS1 基因多态性对沙特女性多囊卵巢综合征风险及其相关变量的影响。

背景技术多囊卵巢综合征（PCOS）是一种复杂的多因素疾病，影响着全世界数百万女性。KISS1 基因的遗传多态性在 PCOS 发展中的作用仍不清楚。本研究旨在探讨 KISS1 基因多态性对 PCOS 及其相关变量：BMI、腰臀比、Kisspeptin、LH、FSH 和 LH-FSH 比值的可能影响。方法 该研究由 104 名 PCOS 女性和 109 名对照者组成，年龄从 19 岁到 36 岁不等。测量了 BMI、腰臀比以及 Kisspeptin、LH 和 FSH 的循环水平。提取DNA，并通过核苷酸测序对KISS1基因进行基因分型。在 KISS1 基因的单核苷酸多态性 (SNP) 的不同基因型中分析了与 PCOS 相关的变量。结果 PCOS 女性的腰臀比 (WHR)、LH 和 LH-FSH 比值显着高于对照组。BMI、Kisspeptin 和 FSH 水平在各组之间没有显着差异。鉴定出 KISS1 基因的 6 个新的 SNP。三个：研究了 rs372790354G > A、rs12998G > A 和 rs35431622A > T。在这些 SNP 中，rs372790354 的基因型和等位基因频率显示与 PCOS 显着相关（GA：p = 0.018，AA：p = 0.022，突变等位基因-A：p = 0.021），并且 G 等位基因具有保护性。PCOS 女性的 LH、Kisspeptin 和 WHR 值受 rs372790354 的 AA 基因型显着影响（p < 0.05）。另外两个 SNP rs12998G > A 和 rs35431622A > T 显示对 PCOS 和相关变量没有显着影响。构建了单倍型，但患者和对照之间没有显着差异。结论 总之，这是第一项报告 KISS1 基因多态性 (rs372790354G > A) 对 PCOS 及其相关变量显着影响的研究。然而，需要更广泛的研究来证实这些发现。