There is no complete linkage between the polymorphisms N680S and T307A of the follicular stimulating hormone receptor gene in fertile women

Abstract

Purpose We conducted a cross-sectional study to evaluate the linkage of FSHR T307A and N680S in a group of fertile women. Methods Peripheral blood was obtained from 51 fertile women. DNA extraction and isolation were performed. For the detection of the T307A polymorphism a set of primers (5_-TCTGAGCTTCATCCAATTTGCA-3_and 5_-GGGAAA GAGGGCA GCTGCAA-3) was used and then the product was further amplified by a second PCR-RFLP using another set of primers (5_-CAAATCTATTTTAAGGCAAGAAGTTGAT TATATGCCTCAG-3_and 5_-GTAGATTCCAATGCAGA GATCA-3). For the N680S polymorphism the primers (5_-TTTGTGGTCATCTGTGGCTGC-3_ and 5_-CAAAGG CAAGGACTGAATT ATC ATT-3_) were used. Statistical analysis for the association between the polymorphisms was performed by the Spearman test. Results We calculated the association between the homozygosis at codon 307 and at codon 680 both for T/T-S/S and A/A-N/ N. A significant association between the genotypic results at codon 680 with those at codon 307 was found (r=0.6363, P= 0.001). However, a complete linkage between these two polymorphisms was rejected as there were 12 patients with discordant results from the expected A-N/T-S at codons 307 and 680, respectively. Conclusion The current data demonstrated an association but failed to demonstrate a complete linkage between these two polymorphisms.

Frequent polymorphisms of FSH receptor do not influence antral follicle responsiveness to follicle-stimulating hormone administration as assessed by the Follicular Output RaTe (FORT)

“…However, homogeneity of the studied populations has raised questions about the actual relationship between these polymorphisms [4,12,15]. The present data evidencing an incomplete association of these two alleles corroborates previous studies made in a group of fertile Brazilian women [13]. Furthermore, both of the studied alleles are in the Hardy-Weinberg equilibrium.…”

Study on Follicle Stimulating Hormone Receptor Gene Polymorphisms in South Indian Women With Polycystic Ovarian Syndrome

“…Polymorphism rs6166 (G/G) genotype is found to be associated with high serum levels of FSH in women with PCOS but no significant association with PCOS risk (Valkenburg et al, 2009). Several studies reported strong linkage disequilibrium between rs6165 and rs6166 in Caucasians (Valkenburg et al, 2009) and Japanese (Sudo et al, 2002) and few studies reported moderate to incomplete linkage between rs6165 and rs6166 reported in women with ovarian cancer (Yang et al, 2006) (Rodini et al, 2011). Our results are in best agreement with the findings from Brazilian study.…”

Association of Follicle-Stimulating Hormone Receptor Polymorphisms with Ovarian Response in Chinese Women: A Prospective Clinical Study

“…A complete linkage has been reported between polymorphisms Thr307Ala and Asn680Ser of FSHR gene in Japanese women (n=522) [20], while other group did not observe a complete linkage of these two polymorphisms in Brazil women, because 12 out of total 51 fertile women showed discordant results (r=0.6363, p=0.001, n=51) [25]. In the present studies, we also studied the linkage between Thr307Ala and Asn680Ser in the infertile Chinese women.…”