AIMS: The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5' upstream of the insulin (INS) and insulin-like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic expression of the insulin gene and affect the development of immune self-tolerance. The aim of this study was to investigate whether the INS VNTR region is a Type 1 diabetes-specific locus or acting as a general autoimmunity gene. METHODS: We genotyped the INS-IGF2 VNTR [using the surrogate INS-23 HphI single nucleotide polymorphism (SNP)] in 823 Graves' disease (GD)/multiple sclerosis (MS) families, 1433 GD/MS patients and 837 healthy control subjects. RESULTS: We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case-control dataset showed no genotypic or allelic difference between the two populations. CONCLUSIONS: These data suggest that the INS-IGF2 VNTR is acting as a Type 1 diabetes-specific susceptibility gene rather than as an influence on general autoimmunity.
AIMS: The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5' upstream of the insulin (INS) and insulin-like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic expression of the insulin gene and affect the development of immune self-tolerance. The aim of this study was to investigate whether the INS VNTR region is a Type 1 diabetes-specific locus or acting as a general autoimmunity gene. METHODS: We genotyped the INS-IGF2 VNTR [using the surrogate INS-23 HphI single nucleotide polymorphism (SNP)] in 823 Graves' disease (GD)/multiple sclerosis (MS) families, 1433 GD/MSpatients and 837 healthy control subjects. RESULTS: We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case-control dataset showed no genotypic or allelic difference between the two populations. CONCLUSIONS: These data suggest that the INS-IGF2 VNTR is acting as a Type 1 diabetes-specific susceptibility gene rather than as an influence on general autoimmunity.
Authors: Maria Justina B Villano; Amanda K Huber; David A Greenberg; Brian K Golden; Erlinda Concepcion; Yaron Tomer Journal: J Clin Endocrinol Metab Date: 2009-01-13 Impact factor: 5.958
Authors: Deborah J Smyth; Joanna M M Howson; Felicity Payne; Lisa M Maier; Rebecca Bailey; Kieran Holland; Christopher E Lowe; Jason D Cooper; John S Hulme; Adrian Vella; Ingrid Dahlman; Alex C Lam; Sarah Nutland; Neil M Walker; Rebecca C J Twells; John A Todd Journal: BMC Med Genet Date: 2006-03-06 Impact factor: 2.103
Authors: Jason D Cooper; Deborah J Smyth; Rebecca Bailey; Felicity Payne; Kate Downes; Lisa M Godfrey; Jennifer Masters; Lauren R Zeitels; Adrian Vella; Neil M Walker; John A Todd Journal: BMC Med Genet Date: 2007-11-28 Impact factor: 2.103