Aims: Variants in Hepatocyte Nuclear Factor 1 alpha (HNF1A) gene are associated with Metabolic Syndromeand its components independently. In this study, we aimed to assess the statistical association of the rs1169288, rs2464196 and rs735396 variants and haplotypes of HNF1A gene with metabolic syndrome (MS) and its components in a Moroccan population sample.
Methods: Three variants in the HNF1A gene were genotyped, rs1169288 A>C, rs2464196 G>A and rs735396 T>C in cases and controls from Moroccan population using KASPar technology (KBioscience, UK). Anthropometric and biochemical parameters were assessed. MS was defined according to the international Diabetes Federation (IDF). The effects of HNF1A polymorphisms and constructed haplotypes on MS were estimated using logistic regression analyses.
Results: The HNF1A gene, rs1169288 and rs2464196 variants conferred an increased risk to MS (OR=2.08, 95%CI=1.38-3.14, P=0.0005 and OR=1.52, 95%IC=1.05-2.20, P=0.03, respectively) when adjusted for BMI, sex and age. We found that the C allele of the variant rs735396 was associated with an increased triglycerides level (p-value=0.04434) among patients and high weist circumference (P=0.02005) and total cholesterol (P=0.03227) amount among controls. The haplotype AAT (OR=5.656, P<0.00001) was the most significantly associated with susceptibility to metabolic syndrome.
Conclusion: The present study demonstrated that SNPs rs1169288 and rs2464196 of HNF1A gene were significantly associated with metabolic syndrome in a Morrocan population. Furthermore, the CAC, AAC, AAT and AGT haplotypes of these SNPs and rs735396 were significantly associated with metabolic syndrome.
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http://dx.doi.org/10.1016/j.dsx.2017.07.005 | DOI Listing |
medRxiv
December 2024
Centre de Recherche du CHUM, and Faculty of Medicine, University of Montreal, QC, Canada.
Monogenic diabetes, formerly called Maturity-Onset Diabetes of the Young (MODY), involves single-gene mutations, typically with dominant inheritance, and has been associated with variants in 14 genes. Among these, mutations are the most common, and their diagnosis allows the use of alternative therapies, including sulfonylureas. In an earlier study, we described a variant displaying recessive transmission, p.
View Article and Find Full Text PDFIndian J Endocrinol Metab
November 2024
Department of Genetics, MedGenome Labs, Tamil Nadu, India.
Introduction: Maturity-onset diabetes of the young (MODY) is a rare group of disorders characterised by impaired functions or development of pancreatic islets and monogenic diabetes at a young age. Diagnosing MODY can be rewarding for both clinicians and patients as it can change the management from generic to targeted therapy.
Methods: This study reports the retrospective analysis of data collected from four clinics between March 2016 and February 2023 from Lucknow, a city in northern India.
PLoS One
December 2024
UCL, UCL Genetics Institute, London, United Kingdom.
Aims: To follow up results from an earlier study using an extended sample of 470,000 exome-sequenced subjects to identify genes associated with type 2 diabetes (T2D) and to characterise the distribution of rare variants in these genes.
Materials And Methods: Exome sequence data for 470,000 UK Biobank participants was analysed using a combined phenotype for T2D obtained from diagnostic and prescription data. Gene-wise weighted burden analysis of rare coding variants in the new cohort of 270,000 samples was carried out for the 32 genes previously significant with uncorrected p < 0.
Cell Rep Med
December 2024
Laboratory of Genitourinary Cancer Pathogenesis, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA. Electronic address:
Metastatic castrate-resistant prostate cancer (mCRPC) is a genetically and phenotypically heterogeneous cancer where advancements are needed in biomarker discovery and targeted therapy. A critical and often effective component of treatment includes taxanes. We perform a high-throughput screen across a cohort of 30 diverse patient-derived castrate-resistant prostate cancer (CRPC) organoids to a library of 78 drugs.
View Article and Find Full Text PDFDiabetes Metab Syndr Obes
November 2024
Department of Pharmaceutical Technology, Jordan University of Science and Technology, Irbid, Jordan.
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