Abstract
BackgroundVariants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess the association of HNF1A gene and haplotypes with the metabolic syndrome (MetS) and its components through an association study in the Tunisian population as well as by a meta-analysis.MethodsA total of 594 Tunisian individuals were genotyped for three variants (rs1169288, rs2464196 and rs735396) located in HNF1A gene using KASPar technology. Statistical analyses were performed with R software. The association was furthermore evaluated through a meta-analysis of our results with those obtained in a Moroccan population.ResultsOur results showed no association between HNF1A variants and MetS in the Tunisian population. However, a significant association was observed between the variant rs735396 and a higher waist circumference. The stratified analysis according to the sex highlighted a significant association between the variant rs1169288 and high cholesterol levels only in women. Similarly, Haplotype analysis showed an association between the HNF1A minor haplotype and high total cholesterol mainly in women. Finally, our meta-analysis showed no association between HNF1A variants and MetS.ConclusionsOur findings exclude the involvement of the three HNF1A variants rs1169288, rs2464196 and rs735396 in the susceptibility to MetS in our studied Tunisian population but emphasize the role of these variants in the cholesterol homeostasis with sex-specific differences, which may serve to rise clinical consideration to early statin therapy in women carrying these genetic variants.
Highlights
Metabolic syndrome (MetS) is characterized by the clustering of risk factors for heart disease and type 2 diabetes (T2D)
The body mass index (BMI), WC, TG, low density lipoprotein cholesterol (LDL), Fasting plamsa glucose (FPG), diastolic and systolic blood pressure were significantly higher in metabolic syndrome (MetS) patients compared to controls
In the second part of our work, we investigated the association of the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) gene variants with MetS quantitative traits such as FPG, BMI, LDL, High-density lipoprotein (HDL), SBP, Diastolic blood pressure (DBP), TG and WC in order to assess the involvement of these variants in the MetS components
Summary
Metabolic syndrome (MetS) is characterized by the clustering of risk factors for heart disease and type 2 diabetes (T2D). These risk factors include central obesity, hyperglycemia, hypertension, and altered lipid profile [1, 2]. The prevalence of MetS has reached levels comprised between 20 and 40% across populations in the last two Dallali et al Diabetology & Metabolic Syndrome (2022) 14:25 decades [3]. We aimed to assess the association of HNF1A gene and haplotypes with the metabolic syndrome (MetS) and its components through an association study in the Tunisian population as well as by a meta-analysis
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