ArticleBMC endocrine disorders2019
HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.
Article in BMC endocrine disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 19 citations in OpenAlex.
- Article
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- Social determinants of participation in genetic research among Puerto Ricans and in the Puerto Rican diaspora.Social science & medicine (1982) · 2024Article
- Comprehensive Molecular Evaluation of HNF-1 Alpha, miR-27a, and miR-146 Gene Variants and Their Link with Predisposition and Progression in Type 2 Diabetes Patients.Journal of personalized medicine · 2023Article
- Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes.Molecular and cellular biochemistry · 2022Article
- When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?Archives of endocrinology and metabolism · 2022Article
- HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation ofGenes · 2022Article
- Transcriptomic analysis of elderly women with low muscle mass: association with immune system pathway.Aging · 2021Article
- Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.Frontiers in endocrinology · 2021Review
- Influence of IGF2BP2, HMG20A, and HNF1B genetic polymorphisms on the susceptibility to Type 2 diabetes mellitus in Chinese Han population.Bioscience reports · 2020Article
- Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.BMC medical genetics · 2020Article
- VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE.Acta endocrinologica (Bucharest, Romania : 2005)Article
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7 authors at 2 institutions in 1 country.
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Abstract
backgroundThe molecular basis of the Turkish population with suspected maturity-onset diabetes of the young (MODY) has not been identified. This is the first study to investigate the association between HNF1A-gene single-nucleotide polymorphisms (SNPs) and having early-onset, MODY-like diabetes mellitus in the Turkish population.
methodsAll diabetic patients (N = 565) who presented to our clinic between 2012 and 2015 with a clinical suspicion of MODY were included in the study. Analysis of HNF1A, HNFB, HNF4A, GCK gene mutations was performed using real-time polymerase chain reaction sequencing. After genetic analysis, diabetics (n = 46) with HNF1A, HNF1B, HNF4A, GCK gene mutations (diagnosed as MODY) and diabetics (n = 30) with HNF1B, HNF4A, GCK gene SNPs were excluded. Patients with early-onset, MODY-like diabetes (n = 486) and non-diabetic controls (n = 263) were included. Genetic analyses for the HNF1A gene p.S487 N (rs2464196), p.A98V (rs1800574) and p.I27L (rs1169288) SNPs were performed using Sanger-based DNA sequencing among the control group.
resultsp.S487 N and p.A98V was similar between the diabetics and controls in dominant and recessive models with no association (each, p > 0.05). p.I27L GT/TT carriers (GT/TT vs. GG, OR = 1.68, 95% CI: [1. 21-2.13]; p = 0.035) and p.I27L TT carriers had increased risk of having MODY-like diabetes (GT/GG vs. TT, OR = 1.56, 95% CI: [1. 14-2.57]; p = 0.048). Family inheritance of diabetes was significantly more common in patients with the p.I27L TT genotype. The p.I27L SNP was modestly associated with having diabetes after adjusting for body mass index and age (β = 1.45, 95% CI: [1. 2-4.2]; p = 0.036).
conclusionsThe HNF1A gene p.I27L SNP was modestly associated with having early-onset, MODY-like diabetes in the Turkish population. HNF1A gene p.I27L SNP might contribute to age at diabetes diagnosis and family inheritance.
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