title: Genetic polymorphisms in Pakistani women with polycystic ovary syndrome.
abstract: Polycystic ovary syndrome (PCOS) is the major cause of anovulatory infertility. Although the genetic basis of PCOS is not well understood, it is a common metabolic and endocrine disorder. This study investigates the possible genomic variants associated with PCOS in Pakistani women from the Punjab region. DNA samples from 96 patients with genetically unrelated PCOS and 96 controls were analyzed by direct sequencing to determine the polymorphisms of different loci on follicle-stimulating hormone receptor (fshr), follicle-stimulating hormone β (fshrβ), luteinizing hormone chorionic gonadotropin (lhcgr), luteinizing hormone β (lhβ), estrogen receptor α (esr1), and estrogen receptor β (esr2) genes. Significant associations were observed within the genotype frequencies, allele frequencies, and multi-single-nucleotide polymorphism (SNP) haplotype analysis of most polymorphisms studied. This study identified new SNPs at positions 605+52 Del/T in lhcgr genes occurring in this particular subpopulation. The strong r (2) value suggests that polymorphisms in the fshr and esr1 genes were in linkage disequilibrium. Our study provides evidence of statistically significant associations between susceptibility to PCOS in Pakistani women and the gene polymorphisms mentioned earlier. This suggests that the susceptible loci for PCOS lie within or very close to the chromosomal regions spanning these genes.
authors.affiliation: Department of Zoology GC University, Lahore, Pakistan Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA ifiliaqat@yahoo.com.
authors.forename: Irfana
authors.initials: I
authors.lastname: Liaqat
authors.affiliation: Department of Zoology GC University, Lahore, Pakistan.
authors.forename: Nusrat
authors.initials: N
authors.lastname: Jahan
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Graciela
authors.initials: G
authors.lastname: Krikun
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Hugh S
authors.initials: HS
authors.lastname: Taylor
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D047628:Estrogen Receptor alpha / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D010154:Pakistan / Q000453:epidemiology; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011962:Receptors, FSH / Q000235:genetics; D011974:Receptors, LH / Q000235:genetics; D012307:Risk Factors
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D011962:Receptors, FSH; D011974:Receptors, LH
keywords: polycystic ovarian syndrome (PCOS); single-nucleotide polymorphisms (SNPs)