{"title":"伊拉克多囊卵巢综合征患者KISS1基因变异rs372790354 G b> A和rs4889 G>A对kisspeptin的影响","authors":"Nora Musawi, S. Qaysi, S. Witwit","doi":"10.5455/jabet.2022.d136","DOIUrl":null,"url":null,"abstract":"Polycystic ovary syndrome (PCOS) is a heterogeneous genetic disorder categorized by hyperandrogenism that affects early reproductive age in females, KISS1 has play role in regulating the hypothalamic-pituitary-gonad axis, it plays a key role in human reproductive function. In patients with polycystic ovarian syndrome, imbalance-of-function mutations in this gene have been found often. blood samples were collected from 120 patients (60 control are divided into 30 normal weight and 30 obese) and (60 PCOS) females are divided into 30 normal weight and 30 obese). DNA was extracted and genotyped for KISS1 variants by HRM-PCR and measured level of kisspeptin by ELIAS, while LH, FSH, DHEA and free testosterone by CLIA. The value of LH, Testosterone, DHEA-S and kisspeptin is elevated in the patient group, while the decline of FSH in serum level patients value, rs372790354 G > A and rs4889 G>A was associated with PCOS in dominant, recessive, co-dominant (P-value< 0.05), rs37279054 AA was not found the effect of obese group and linked with normal weight PCOS put present study no effect on the parameters, rs4889 GG/GA was the effect on all subgroups except the genotype GA not effected on obese female, the highly significant ( P-value<0.05) of rs4889 GA influenced on measured of WHR, LH/FSH ratio and DHEA-S in the patient compared to control, rs4889 GG/AA was influenced on normal-weight patient compare to an obese patient, the WHR was higher in an obese patient in both genotype. While the level of kisspeptin in normal weight with genotype AA was higher level compared to obese and (P-value<0.05). We concluded that the KISS1 levels were higher in PCOS females compared to controls and decreased with increasing BMI, Kiss1 polymorphism rs372790354 G>A and rs4889 G>A may be associated with the pathophysiology of PCOS and lead to increase serum level of LH that due to hyperandrogenism.","PeriodicalId":36275,"journal":{"name":"Journal of Advanced Biotechnology and Experimental Therapeutics","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Effect of KISS1 gene variants (rs372790354 G>A and rs4889 G>A) on kisspeptin in patients with polycystic ovary syndrome in Iraq.\",\"authors\":\"Nora Musawi, S. Qaysi, S. Witwit\",\"doi\":\"10.5455/jabet.2022.d136\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Polycystic ovary syndrome (PCOS) is a heterogeneous genetic disorder categorized by hyperandrogenism that affects early reproductive age in females, KISS1 has play role in regulating the hypothalamic-pituitary-gonad axis, it plays a key role in human reproductive function. In patients with polycystic ovarian syndrome, imbalance-of-function mutations in this gene have been found often. blood samples were collected from 120 patients (60 control are divided into 30 normal weight and 30 obese) and (60 PCOS) females are divided into 30 normal weight and 30 obese). DNA was extracted and genotyped for KISS1 variants by HRM-PCR and measured level of kisspeptin by ELIAS, while LH, FSH, DHEA and free testosterone by CLIA. The value of LH, Testosterone, DHEA-S and kisspeptin is elevated in the patient group, while the decline of FSH in serum level patients value, rs372790354 G > A and rs4889 G>A was associated with PCOS in dominant, recessive, co-dominant (P-value< 0.05), rs37279054 AA was not found the effect of obese group and linked with normal weight PCOS put present study no effect on the parameters, rs4889 GG/GA was the effect on all subgroups except the genotype GA not effected on obese female, the highly significant ( P-value<0.05) of rs4889 GA influenced on measured of WHR, LH/FSH ratio and DHEA-S in the patient compared to control, rs4889 GG/AA was influenced on normal-weight patient compare to an obese patient, the WHR was higher in an obese patient in both genotype. While the level of kisspeptin in normal weight with genotype AA was higher level compared to obese and (P-value<0.05). We concluded that the KISS1 levels were higher in PCOS females compared to controls and decreased with increasing BMI, Kiss1 polymorphism rs372790354 G>A and rs4889 G>A may be associated with the pathophysiology of PCOS and lead to increase serum level of LH that due to hyperandrogenism.\",\"PeriodicalId\":36275,\"journal\":{\"name\":\"Journal of Advanced Biotechnology and Experimental Therapeutics\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Advanced Biotechnology and Experimental Therapeutics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5455/jabet.2022.d136\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Advanced Biotechnology and Experimental Therapeutics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5455/jabet.2022.d136","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
摘要
多囊卵巢综合征(Polycystic ovarian syndrome, PCOS)是一种影响女性早育年龄的异源性遗传疾病,KISS1在调节下丘脑-垂体-性腺轴中发挥重要作用,在人类生殖功能中起关键作用。在多囊卵巢综合征患者中,经常发现该基因的功能不平衡突变。采集120例患者(对照组60例,体重正常30例,肥胖30例)和PCOS女性60例,体重正常30例,肥胖30例)的血液样本。提取DNA,采用HRM-PCR分型,elisa检测kisspeptin水平,CLIA检测LH、FSH、DHEA和游离睾酮水平。LH的价值,睾酮、硫酸脱氢表雄酮(dhea - s和kisspeptin升高的患者群体,而病人血清中FSH水平的下降值,rs372790354 G >和rs4889 G >主导与PCOS有关,隐性,共显性(p < 0.05),未找到rs37279054 AA的影响肥胖组和正常体重与PCOS把本研究没有对参数的影响,rs4889 GG / GA对所有子组的影响除了基因型遗传算法不影响肥胖的女性,高p值ea和rs4889 G>A可能与PCOS的病理生理有关,并导致高雄激素血症引起的血清LH水平升高。
Effect of KISS1 gene variants (rs372790354 G>A and rs4889 G>A) on kisspeptin in patients with polycystic ovary syndrome in Iraq.
Polycystic ovary syndrome (PCOS) is a heterogeneous genetic disorder categorized by hyperandrogenism that affects early reproductive age in females, KISS1 has play role in regulating the hypothalamic-pituitary-gonad axis, it plays a key role in human reproductive function. In patients with polycystic ovarian syndrome, imbalance-of-function mutations in this gene have been found often. blood samples were collected from 120 patients (60 control are divided into 30 normal weight and 30 obese) and (60 PCOS) females are divided into 30 normal weight and 30 obese). DNA was extracted and genotyped for KISS1 variants by HRM-PCR and measured level of kisspeptin by ELIAS, while LH, FSH, DHEA and free testosterone by CLIA. The value of LH, Testosterone, DHEA-S and kisspeptin is elevated in the patient group, while the decline of FSH in serum level patients value, rs372790354 G > A and rs4889 G>A was associated with PCOS in dominant, recessive, co-dominant (P-value< 0.05), rs37279054 AA was not found the effect of obese group and linked with normal weight PCOS put present study no effect on the parameters, rs4889 GG/GA was the effect on all subgroups except the genotype GA not effected on obese female, the highly significant ( P-value<0.05) of rs4889 GA influenced on measured of WHR, LH/FSH ratio and DHEA-S in the patient compared to control, rs4889 GG/AA was influenced on normal-weight patient compare to an obese patient, the WHR was higher in an obese patient in both genotype. While the level of kisspeptin in normal weight with genotype AA was higher level compared to obese and (P-value<0.05). We concluded that the KISS1 levels were higher in PCOS females compared to controls and decreased with increasing BMI, Kiss1 polymorphism rs372790354 G>A and rs4889 G>A may be associated with the pathophysiology of PCOS and lead to increase serum level of LH that due to hyperandrogenism.