期刊论文详细信息
BMC Endocrine Disorders 卷:20
Influence of KISS1 gene polymorphisms on the risk of polycystic ovary syndrome and its associated variables, in Saudi women
Arjumand S. Warsy1  Lina M. AlNeghery2  Khushboo Ambreen3  Mazin H. Daghestani4  Mamoon Daghistani5  Fadwa S. Albalawi6  Maha H. Daghestani6 
[1] Central Laboratory, Female Center for Scientific and Medical Colleges, King Saud University;
[2] Department of Biology, College of Science, Imam Mohammad Ibn Saud Islamic University;
[3] Department of Biotechnology, Integral University;
[4] Department of Obstetrics & Gynaecology, Umm-Al-Qura University;
[5] Department of Surgery, King Abdulaziz Medical City, National Guard Heath Affairs;
[6] Department of Zoology, Female Center for Scientific and Medical Colleges, King Saud University;
关键词: Polycystic ovary syndrome;    KISS1 gene polymorphisms;    Kisspeptin;    LH;    FSH;    Waist-hip ratio;   
DOI  :  10.1186/s12902-020-0537-2
来源: DOAJ
【 摘 要 】

Abstract 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.

【 授权许可】

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