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, 8 (10), 3356-3361

Correlation of Follicle-Stimulating Hormone Receptor Gene Asn 680 Ser (rs6166) Polymorphism With Female Infertility


Correlation of Follicle-Stimulating Hormone Receptor Gene Asn 680 Ser (rs6166) Polymorphism With Female Infertility

Sangeeta Rai et al. J Family Med Prim Care.


Background and aims: Female infertility is a complex multifactorial, and polygenic disease associated with genetic factors plays an essential role in its formation and follicle development, oocyte maturation, and steroidogenesis regulation in the ovary. The aim here is too study the genetic association between follicle-stimulating hormone receptor (FSHR) Asn680Ser; (rs6166) gene polymorphism with female Infertility in our population.

Methods: In this prospective case-control study, we enrolled 106 infertile and 164 unrelated healthy control individuals. Genomic DNA was extracted from the 5 ml of venous blood using the modified salting-out method. A polymerase chain reaction-amplified exon 10 of FSHR and purified PCR products were sequenced on an ABI 3730XL DNA sequencer. The data were analyzed statistically.

Results: We found that the presence of rare allele "G" and heterozygous and common homozygous genotypes significantly increased the risk of female infertility. No significant change in the FSHR 191756 G >A genotype frequency was observed, regardless of chromosomal integrity. The genotype frequency distribution of locus 680 was consistent with the Hardy-Weinberg Equilibrium (HWE) in both groups (P > 0.05).

Conclusion: No significant differences were found in allelic variants frequency and genotype distribution between each category of subjects when analyzing the FSHR SNPs in the exonic region (P value >0.05). FSHR Asn680Ser polymorphisms and female infertility (P > 0.05). Variations in FSHR gene have an essential influence on ovarian function and can account for several defects of female fertility. FSHR Asn680Ser (rs6166) gene polymorphism is associated with female infertility and can be used as a relevant molecular biomarker to identify the risk of infertility in our population. This finding can be important for disease pathogenesis.

Keywords: Follicle-stimulating hormone receptor; gene polymorphisms; infertility; rs6166 polymorphism.

Conflict of interest statement

There is no conflict of interest.


Figure 1
Figure 1
DNA sequencing results for the FSHR gene Asn680Ser polymorphisms. A. Chromatogram shows GG allele in control sample and indicate the presence of heterozygous AG allele in Infertility sample
Figure 2
Figure 2
DNA sequencing results for the FSHR gene Asn680Ser polymorphisms. A. DNA sequencing of the Asn680Ser polymorphism (AA sequence altered) Homozygous is indicated by the arrow. FSHR: follicle-stimulating hormone receptor

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