title: Association of the luteinizing hormone/choriogonadotropin receptor gene polymorphism with polycystic ovary syndrome.
abstract: This study aimed at evaluating possible associations of the single nucleotide polymorphism (SNP) in luteinizing hormone/choriogonadotropin receptor (LHCGR) gene G935A and polycystic ovary syndrome (PCOS) phenotype. The study included 100 PCOS female patients and 60 healthy female control subjects. The patients were recruited from the Gynecology out-patient clinic, Kasr Al-Aini Hospital, Cairo University. All candidates underwent full history taking and clinical examination with calculation of body mass index. Serum and EDTA samples were collected from each patient after a written consent. A hormonal profile was done for each patient as well as DNA analysis of the G935A polymorphism of LHCGR gene. In PCOS group, 26% were homozygous (AA), 27% were heterozygous (GA) and 47% were wild genotype (GG), while in controls 30% were heterozygous and 70% were wild genotype (OR: 2.25; CI: 1.16-4.386; p value: 0.012). The homozygous 935A individuals were at higher risk to develop PCOS than controls (OR: 1.80; CI: 1.54-2.09; p value < 0.001).We found a genetic variant, which is associated with PCOS in a sample of the Egyptian population. These results may provide an opportunity to test this SNP at the LHCGR gene in fertile or infertile women with family history to assess their risk of PCOS.
authors.affiliation: Obstetrics and Gynecology Department and.
authors.forename: Yasmin Ahmed
authors.initials: YA
authors.lastname: Bassiouny
authors.forename: Walaa Ahmed
authors.initials: WA
authors.lastname: Rabie
authors.forename: Ayman Ahmed
authors.initials: AA
authors.lastname: Hassan
authors.forename: Rania Kamal
authors.initials: RK
authors.lastname: Darwish
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D015992:Body Mass Index; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006785:Hospitals, University; D006801:Humans; D009765:Obesity / Q000150:complications; D010044:Outpatient Clinics, Hospital; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011974:Receptors, LH / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D011974:Receptors, LH
keywords: G935A polymorphism; genetic factors; luteinizing hormone/choriogonadotropin receptor gene; polycystic ovary syndrome; polymerase chain reaction-restriction fragment length polymorphism technique; single nucleotide polymorphism