Genetic variations of solute carrier family 30 (zinc transporter) member 8 (SLC30A8) are not associated with polycystic ovary syndrome.
ABSTRACT No statistically significant differences in genotype and allele frequencies of single nucleotide polymorphism (SNP) rs13266634 in gene SLC30A8 were found between patients with polycystic ovary syndrome (PCOS) and healthy controls. No associations were observed between genotype of rs13266634 and the quantitative clinical features of PCOS patients in the PCOS group after adjustment for body mass index.
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ABSTRACT: Insulin resistance is a core feature of polycystic ovary syndrome (PCOS). Recently, genome-wide association studies have reported a number of single-nucleotide polymorphisms (SNPs) with reproducible associations and susceptibilities to type 2 diabetes. We examined the potential association between the diabetogenic genes uncovered in the genome-wide association studies and PCOS in Korean women. Case-control study. Women with or without PCOS. DNA samples from 377 patients with PCOS and 386 age-matched controls were genotyped. None of the 12 SNPs in the six genes (KCNJ11, TCF7L2, SLC30A8, HHEX, FTO and CDKAL1) uncovered in the genome-wide association studies were associated with PCOS. For further analysis, the patients with PCOS were divided into two or three subgroups according to genotype, and the associations between the genotypes and insulin resistance or insulin secretory capacity were assessed. No SNPs were significantly associated with HOMA-IR, HOMA (βcell) (%), or 2-h 75-g oral glucose tolerance test insulin levels in the patients with PCOS; there were no significant associations with other serum hormonal and metabolic markers, such as androgen or glucose levels. Our results suggest that the six type 2 diabetes-associated genes identified in genome-wide association studies are not associated with PCOS.Clinical Endocrinology 03/2012; 77(3):439-45. DOI:10.1111/j.1365-2265.2012.04389.x · 3.35 Impact Factor
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ABSTRACT: The role of metabolic disturbance in polycystic ovary syndrome (PCOS) has been well established, with insulin resistance and the resulting compensatory hyperinsulinemia thought to promote hyperandrogenemia. Genome-wide association studies (GWAS) have established a large number of loci for metabolic conditions such as type 2 diabetes and obesity. A subset of these loci has been investigated for a role in PCOS; these studies generally have not revealed a confirmed role for these loci in PCOS risk. However, a large scale investigation of genes related to these pathways has not previously been performed. We conducted a two stage case control association study of 121,715 single nucleotide polymorphisms (SNPs) selected to represent susceptibility loci associated with traits such as type 2 diabetes, obesity measures, lipid levels and cardiovascular function using the Cardio-Metabochip in 847 PCOS cases and 845 controls. Several hypothesis-generating associations with PCOS were observed (top SNP rs2129107, P=3.8×10(-6)). We did not find any loci definitively associated with PCOS after strict correction for multiple testing, suggesting that cardio-metabolic loci are not major risk factors underlying the susceptibility to PCOS.Steroids 12/2011; 77(4):317-22. DOI:10.1016/j.steroids.2011.12.005 · 2.72 Impact Factor