Polygenic modifiers of HNF1A-MODY age at diagnosis Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes Short Title: Polygenic modifiers of HNF1A-MODY age at diagnosis
نویسندگان
چکیده
1. Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, Exeter, UK 2. Diabetes Genetics, Peninsula College of Medicine and Dentistry, Exeter, UK 3. Department of Clinical Medicine, University of Bergen, Bergen, Norway 4. Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway 5. Department of Biomedicine, University of Bergen, Bergen, Norway 6. Department of Pediatrics, Haukeland University Hospital, Bergen, Norway 7. Section for Pathology, Gade Institute, University of Bergen, Bergen, Norway 8. Department of Pathology, Haukeland University Hospital, Bergen, Norway
منابع مشابه
Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes
OBJECTIVE Mutations in the HNF1A gene are the most common cause of maturity-onset diabetes of the young (MODY). There is a substantial variation in the age at diabetes diagnosis, even within families where diabetes is caused by the same mutation. We investigated the hypothesis that common polygenic variants that predispose to type 2 diabetes might account for the difference in age at diagnosis....
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BACKGROUND There is considerable interest in the hypothesis that low frequency, intermediate penetrance variants contribute to the proportion of Type 2 Diabetes (T2D) susceptibility not attributable to the common variants uncovered through genome-wide association approaches. Genes previously implicated in monogenic and multifactorial forms of diabetes are obvious candidates in this respect. In ...
متن کاملCirculating ghrelin level is higher in HNF1A–MODY and GCK–MODY than in polygenic forms of diabetes mellitus
Ghrelin is a hormone that regulates appetite. It is likely to be involved in the pathophysiology of varying forms of diabetes. In animal studies, the ghrelin expression was regulated by the hepatocyte nuclear factor 1 alpha (HNF1A). Mutations of the HNF1A gene cause maturity onset diabetes of the young (MODY). We aimed to assess the circulating ghrelin levels in HNF1A-MODY and in other types of...
متن کاملGenetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
OBJECTIVE To determine prevalence, genetic and phenotype characteristics of patients with hepatocyte nuclear factor-1α (HNF1A) variants in the Diabetes Patienten Verlaufsdokumenation (DPV) multicentre database and to examine the influence of HNF1A mutation type, or location on clinical phenotypes. PATIENTS AND METHODS Seventy-one DPV patients were labelled as HNF1A-MODY (MODY3). Forty-four pa...
متن کاملIdentification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.
AIM The prevalence of hepatocyte nuclear factor (HNF)-1A and HNF4A mutations, and the clinical implications following the genetic diagnosis of maturity-onset diabetes of the young (MODY) in the Irish population, remain unknown. The aim of this study was to establish the occurrence of HNF1A and HNF4A mutations in subjects classified clinically as MODY to identify novel mutations, and to determin...
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تاریخ انتشار 2009