Association of Luteinizing hormone and LH receptor gene polymorphism with susceptibility of Polycystic ovary syndrome

Abstract

Altered folliculogenesis and reproductive anomalies in polycystic ovary syndrome (PCOS) suggest that variations of genes involved in folliculogenesis might influence etiopathogenesis of this syndrome. The objective of this study was to assess the association of LHβ (rs1056917) and lutropin receptor (LHR) (rs61996318) polymorphism with polycystic ovarian syndrome and to interrelate the levels of luteinizing hormone (LH) with severity of clinical manifestations of PCOS. Three hundred women of reproductive age were enrolled in this retrospective casecontrol study. Rotterdam Criteria was used to diagnose PCOS patients. Nucleotide mutations of LH and LHR gene was analyzed using polymerase chain reaction-restriction fragment length polymorphism. High LH levels were found in 88% of PCOS patients. LHβ TC and CC genotypes were significantly associated with PCOS risk (OR [odds ratio] 13.95, CI [confidence interval] 6.30-30.86, p < 0.0001 and OR 3.31, CI 1.30-8.41, p = 0.01). The frequency of the C allele was 0.31 in PCOS and 0.02 in controls (OR 18.80, CI 8.54-41.37, p < 0.0001). LHR CA and AA genotype conferred a significant risk in development of PCOS (OR 5.07, CI 2.50-10.31, p < 0.0001). The frequency of the A allele was 0.51 in PCOS and 0.03 in controls (OR 26.62, CI 13.99-50.65, p < 0.0001). The results show an association between polymorphism of LHβ, LHR and PCOS, indicating that variants of these genes may affect the metabolic pathways involved in this syndrome. Majority of the affected women were found to have elevated LH levels. This study sheds new light in the diagnosis, treatment and management of PCOS syndrome.

Do Basal Luteinizing Hormone and Luteinizing Hormone/ Follicle-Stimulating Hormone Ratio have Significance in Prognosticating the Outcome of In vitro Fertilization Cycles in Polycystic Ovary Syndrome?

“…They cited a report by Deswal et al ., in which luteinizing hormone and LH receptor (LHR) gene polymorphisms played an important role in determining LH and LH/FSH ratio. [ 2 ] The strong association of LHβ and LHR variations with high LH/FSH ratio was observed by them in their study along with the elevated levels of LH and LH/FSH ratio in majority of PCOS patients. In the present study, although we did not look for genetic polymorphisms in our patients which might be one of the causes for elevated levels, whatever may be the cause, the elevated levels did not impair the outcome of IVF/ICSI cycles in PCOS women.…”

Actualities in Mutations of Luteinizing Hormone (Lh) and Folliclestimulating Hormone (Fsh) Receptors

“…Polymorphisms of FSRH and LHR have been involved in women with PCOS: FSHR gene p. Thr307Ala or p. Asn680Ser are associated with an increased risk for PCOS, clomiphene resistance, but better response to rFSH (26); LH SNP (rs61996318) CA and AA genotype conferred a significant risk in the development of PCOS (OR 5.07, 95% CI [2.50-10.31] (27).…”

Association of Estrogen Receptor Genes Polymorphisms With Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis Based on Observational Studies

“…To date, numerous studies suggested that genetic polymorphisms contribute substantially to the development of PCOS; over 100 genes are candidates, which functioned mainly in steroid biosynthesis, steroid action, glucose metabolism, and lipid metabolism ( 2 – 7 ). Rising interests were drawn in abnormal function of female sex hormone and hormonal receptors of PCOS women, and the impact of the mutation of some critical genes in the hormone metabolism pathways such as androgen receptor (AR) ( 8 ), luteinizing hormone receptor (LHR) ( 9 ), and follicle-stimulating hormone receptor (FSHR) ( 10 ) has been investigated in some meta-analyses. It was found that they were associated with some characteristics of PCOS such as clinical and/or biochemical hyperandrogenism, ovulatory dysfunction, and polycystic ovaries.…”