Association of Follicle Stimulating Hormone Receptor Gene Asn680ser Polymorphism with Polycystic Ovary Syndrome in Iraqi Women

Polycystic ovary syndrome (PCOS) is a polygenic multifactorial status affecting millions of females worldwide. It is a common cause of anovulatory subfertility.

This study aim to investigate the potential association between the follicle-stimulating hormone receptor (FSHR) gene Asn680Ser (rs6166) single nucleotide polymorphism with PCOS in Iraqi women.

A case-control study including 135 Iraqi women of Arab ethnicity (75 PCOS patients and 60 age-matched control women).The age of subjects ranged from 18 to 38 years. PCOS diagnosis was established by Rotterdam consensus criteria. FSHR gene (Asn680Ser) variant was tested by polymerase chain reaction-restriction fragment length polymorphism followed by deoxyribonucleic acid (DNA) sequencing.

In the present study, the A (Asn) allele and homozygote AA (Asn/Asn) genotype of the FSHR gene Asn680Ser polymorphism had significant risk (P=0.004 and p= 0.005 respectively) of developing PCOS in Iraqi women. On the contrary, the G (Ser) allele and the heterozygote AG (Asn/Ser) genotype gave a significant (P=0.004 and P=0.026 respectively) protective factor from developing PCOS in Iraqi women. Sequencing analysis of DNA confirmed restriction fragment length polymorphism analysis.

The variant Asn680Ser of the FSHR gene is associated with risk of PCOS development and may consider as the causal factor of PCOS in Iraqi women.