Studies of variability in the islet amyloid polypeptide gene in relation to Type 2 diabetes

• Published in: Diabetic medicine Vol. 20; no. 6; pp. 491 - 494
• Main Authors: Pildal, J., Lajer, M., Hansen, S. K., Almind, K., Ambye, L., Borch-Johnsen, K., Carstensen, B., Hansen, T., Pedersen, O.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.06.2003; Blackwell
• Subjects: amylin; Amyloid - genetics; Base Sequence; Biological and medical sciences; Diabetes Mellitus, Type 2 - genetics; Diabetes. Impaired glucose tolerance; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Female; Genotype; Heteroduplex Analysis - methods; Humans; IAPP; Islet Amyloid Polypeptide; Male; Management. Various non-drug treatments. Langerhans islet grafts; Medical sciences; Middle Aged; Mutation - genetics; mutation analysis; polymorphism; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic - genetics; Type 2 diabetes; Endocrinopathy; Human; Type 2 diabetes; Gene; Variability; mutation analysis; Amylin; IAPP; Non insulin dependent diabetes; Polymorphism
• ISSN: 0742-3071; 1464-5491
• DOI: 10.1046/j.1464-5491.2003.00951.x

Aims To explore whether the coding region of the islet amyloid polypeptide (IAPP) gene contains genetic variants associated with Type 2 diabetes and whether a previously reported association of the promoter variant −132g→a with Type 2 diabetes could be reproduced in Danish Caucasians. Methods The coding region was analyzed using single strand conformation polymorphism (SSCP) and heteroduplex analysis in 192 Type 2 diabetic patients. Restriction fragment length polymorphism (RFLP) was employed to screen for the promoter variant in 414 Type 2 diabetic patients and 182 glucose‐tolerant control subjects. Results The SSCP analysis identified an IVS+75a→g variant in two patients. The frequency of heterozygous carriers of the promoter variant in the case–control study was 4.1% (17/414) and 7.1% (13/182), respectively. Odds ratio of the prevalence of Type 2 diabetes in carriers compared with non‐carriers was estimated to be 0.47 (95% confidence interval 0.19, 1.15). Conclusion Neither variability in the coding region of the IAPP gene nor the −132g→a promoter variant was associated with Type 2 diabetes among the studied Danish Caucasians. Diabet. Med. 20, 491–494 (2003)