title: Association of the M3151 variant in the transient receptor potential vanilloid receptor-1 (TRPV1) gene with type 1 diabetes in an Ashkenazi Jewish population.
abstract: BACKGROUND
  Type 1 diabetes in humans is an autoimmune disease in which Tcells target pancreatic islets of Langerhans, leading to the progressive destruction of the insulin-producing beta cells. Both genetic and environmental factors contribute to the development of autoimmune diabetes. The non-obese diabetic (NOD) mouse model of human type 1 diabetes demonstrates two missense mutations in the transient receptor potentialvanilloid receptor-1 (TRPVi) gene.
  
  
  OBJECTIVE
  To investigate whether polymorphism in the TRPV1 gene may play a role in the predisposition to human type 1 diabetes.
  
  
  METHODS
  We genotyped 146 Ashkenazi Jewish type 1 diabetic patients and 205 Ashkenazi Jewish healthy controls for the rs222747 (M3151), rs224534 (T4691) and rs8065080 (1585V) variants of the TRPV1 gene.
  
  
  RESULTS
  There was a significant increase in the rs222747 (M3151) variant of the TRPV1 gene in the type 1 diabetes cohort compared to the control: rs222747 (M3151) homozygous: (61% vs. 48.3%, P = 0.02). Logistic regression analysis revealed that type 1 diabetes was significantly associated with rs222747 (M3151), such that having diabetes increased the odds of rs222747 homozygosity (M3151) by 67.2%, odds ratio 1.6, 95% confidence interval 1.08-2.57, P < 0.02. No difference was found in the rs224534 (T4691) and rs8065080 (1585V) allelic variants. There was no difference in any of the TRPV1 variants by gender, age when type 1 diabetes was diagnosed, body mass index, glycemic control, blood pressure, positive autoantibodies (ICA, GAD, IAA), and other autoimmune diseases.
  
  
  CONCLUSIONS
  Our study demonstrates that TRPV1 may be a susceptible gene for type 1 diabetes in an Ashkenazi Jewish population. These results should be replicated in the same ethnic group and in other ethnic groups.
authors: Department of Neurology, Sackler Faculty of Medicine, Wolfson Medical Center, Holon, Israel.
authors: Menachem
authors: M
authors: Sadeh
authors: Department of Endocrinology, Hadassah University Hospital, Jerusalem, Israel.
authors: Benjamin
authors: B
authors: Glazer
authors: Pediatric Endocrine and Diabetes Unit, Wolfson Medical Center, Holon, Israel.
authors: Zohar
authors: Z
authors: Landau
authors: Diabetes Unit, Wolfson Medical Center, Holon, Israel.
authors: Julio
authors: J
authors: Wainstein
authors: Molecular Genetic Laboratory, Wolfson Medical Center, Holon, Israel.
authors: Tall
authors: T
authors: Bezaleli
authors: Department of Neurology, Sackler Faculty of Medicine, Wolfson Medical Center, Holon, Israel.
authors: Ron
authors: R
authors: Dabby
authors: Pediatric Endocrine and Diabetes Unit, Wolfson Medical Center, Holon, Israel.
authors: Aaron
authors: A
authors: Hanukoglu
authors: Epidemiology and Research Unit, Wolfson Medical Center, Holon, Israel.
authors: Mona
authors: M
authors: Boaz
authors: Molecular Genetic Laboratory, Wolfson Medical Center, Holon, Israel.
authors: Esther
authors: E
authors: Leshinsky-Silver
mesh_terms: D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007585:Jews / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D020641:Polymorphism, Single Nucleotide; D050916:TRPV Cation Channels / Q000235:genetics*
chemical_list: D050916:TRPV Cation Channels; C494482:TRPV1 protein, human