Molecular Detection of Follicle Stimulating Hormone Receptor Polymorphisms and Luteinizing Hormone Gene Variations in Primary and Secondary Iraqi Infertile Women

Abstract

The current study aimed to determine the role of hormonal disturbances in infertility, moreover assessing variations at the molecular level that could affect this disease. The study examined 90 blood samples, 30 patients with primary infertility, 30 patients with secondary infertility and 30 healthy women as control. FSH and LH were measured using Electrochemiluminescence assay. DNA was isolated for molecular detection of polymorphisms at the nucleotide level (rs6166 and rs28928870) in FSHR gene using ASO PCR technique and identification mutations in LH gene using PCR technique followed by sequencing. The results showed no significant differences in FSH levels (6.95±4.55 mIU/ml, 5.48±4.64 mIU/ml and 5.52±3.07 mIU/ml) between control, primary and secondary respectively, while LH showed significant differences between primary and secondary groups (14.23±12.17 mIU/ml and 8.54±5.62 mIU/ml) respectively. A significant positive correlation was found between FSH and LH. The molecular study showed different polymorphisms at different positions in LH gene detected by sequencing. Regarding FSHR polymorphisms our results showed that the OR (95% CI) for AA and AG genotypes of Asn680Ser polymorphism (rs6166) was 3.32 (0.14-78-49) and 1.00 (0.06-15.99) respectively for primary infertility. Moreover, the OR (95% CI) for AA and AG of this polymorphism was 1.00 (0.07-17.59) and 3.0 (0.13-70.59) respectively for secondary infertility. While regarding Thr449Ile (rs28928870) only the wild type was detected in the studied group. In conclusion, AG genotype ofAsn680Ser is more prevalent in the Iraqi studied women. Furthermore, A allele is a risk factor for the disease as the (OR: 1.49 95% CI: 0.44-5.03) for the primary group and (OR: 1.22 95% CI: 0.35-4.23) for secondary group.