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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/097/05/1213-1223

    • Keywords

       

      genome-wide association studies; single-nucleotide polymorphisms; polycystic ovary syndrome.

    • Abstract

       

      Polycystic ovary syndrome (PCOS) is a common endocrine disorder in females, and is associated with altered metabolic processes in particular insulin resistance and diabetesmellitus. PCOS shares with type-2 diabetes (T2D) a number of features, including beta cell dysfunction, impaired glucose tolerance and dyslipidaemia. Recently, genomewide association studies (GWAS) have reported a number of genes with reproducible associations and susceptibilities to T2D. To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women. A case–control study, includes 162 cases and 162 controls was enrolled. Genotyping was carried out by the allelicdiscrimination method. Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls. Our results suggest that COL8A1, KCNQ1 and SLC30A8, which are previously identified through GWAS as T2D-associated genes, are associated with PCOS.

    • Author Affiliations

       

      INTISSAR EZZIDI1 2 NABIL MTIRAOUI1 2 MOHAMMED ELTIGANI MOHMMED ALI3 AQEEL AL MASOUDI4 FAISEL ABU DUHIER1

      1. Prince Fahd Bin Sultan Research Chair, Using Advance Technology for Diseases Detection and Treatment, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia
      2. Laboratory of Human Genome and Multifactorial Diseases, LR12ES07, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia
      3. King Salman Military Hospital, Tabuk, Saudi Arabia
      4. King Abdulaziz Airbase Armed Forces Hospital, Dhahran, Saudi Arabia
    • Dates

       
  • Journal of Genetics | News

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