To Screen Inactivation Mutation of Exon 1 of FSHR Gene in Polycystic Ovarian Syndrome: A South Indian Cohort Study
01 Nov 2017-Vol. 263, Iss: 2, pp 022034
About: The article was published on 2017-11-01 and is currently open access. It has received 1 citations till now. The article focuses on the topics: Mutation (genetic algorithm) & Exon.
TL;DR: The role of TGF-β's in PCOS and FSGS is reviewed and the inter-relationship between these two disorders is explored.
TL;DR: The structure of the human F SHR displays striking similarity to that of the previously characterized rat FSHR gene, with a high degree of conservation in exon sizes and exon/intron junctions.
TL;DR: The SNP rs 6166 of the FSHR gene significantly influences BMD in postmenopausal women, and AA rs6166 women are at increased risk of post menopausal osteoporosis compared with GG rs6165 women, independently of circulating levels of FSH and estrogens.
Abstract: Objective FSH, via its receptor (FSHR), influences bone remodeling and osteoclast proliferation and activity. The aim of this study was to evaluate the influence of two single nucleotide polymorphisms (SNPs) of the FSHR gene on bone mineral density (BMD) and bone turnover markers (bone alkaline phosphatase and type I collagen C-telopeptides) in postmenopausal women. Methods Two hundred and eighty-nine unrelated postmenopausal women were genotyped for the SNPs rs1394205 and rs6166. BMD was estimated using dual-energy X-ray absorptiometry and quantitative ultrasound (QUS) methodologies. Results AA rs6166 women showed a lower BMD (femoral neck and total body), lower stiffness index (calcaneal QUS), and higher serum levels of bone turnover markers compared to GG rs6166 women. The prevalence of osteoporosis was significantly higher in AA rs6166 women compared with GG rs6166 women. These results were not influenced by circulating levels of FSH and estrogens. Conclusion The SNP rs6166 of the FSHR gene significantly influences BMD in postmenopausal women. In particular, AA rs6166 women are at increased risk of postmenopausal osteoporosis compared with GG rs6166 women, independently of circulating levels of FSH and estrogens. Previous studies have demonstrated that this SNP influences cell and tissue response to hyperstimulation of FSHR in vivo and in vitro. Our study results appear in agreement with these experimental data and with known biological actions of FSH/FSHR system in bone homeostasis.
TL;DR: The findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position −29, and a novel homozygous mutation C1723T (Ala575Val) in one woman with primary Amenorrhea is identified.
Abstract: This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism. Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene. The frequency distribution of polymorphism at −29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at −29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation C1723T (Ala575Val) in one woman with primary amenorrhea. Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position −29. We identified a novel homozygous mutation C1723T (Ala575Val) in a woman with primary amenorrhea.
TL;DR: No inactivating mutations in exons 7 and 10 of the FSH receptor gene were identified in Brazilian women with POF, and a high frequency of two polymorphisms that are in linkage disequilibrium was found in exon 10 of this gene.
TL;DR: The results suggest that FSH receptor might play a role in genetic susceptibility to PCOS, however, confirmatory studies in independent samples are needed.