Polymorphisms in fatty acid-binding protein-3 (FABP3) – putative association with type 2 diabetes mellitus

✍ Scribed by Hyoung Doo Shin; Lyoung Hyo Kim; Byung Lae Park; Hye Seung Jung; Young Min Cho; Min Kyong Moon; Hong Kyu Lee; Kyong Soo Park

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 55 KB
• Volume: 22
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9168

✦ Synopsis

Fatty acid-binding proteins (FABPs) play key roles as transport vehicles of fatty compounds throughout the cytoplasm. Human FABP3, one of the FABPs, is present in a wide variety of tissues with highest concentration in cardiac and skeletal muscle. In an effort to identify polymorphic markers in potential candidate genes for type 2 diabetes, we have sequenced the full gene of FABP3, including the -1,500bp promoter region. Fourteen polymorphisms were identified in FABP3: two ins/dels, two STRs, and ten SNPs (two in promoter, nine in intron, two in 3'UTR, and one in the 3' end). Among identified polymorphisms, five common sites including c.-530_-532delCTC, c.-345T>C, c.348+429(CA)9-18, c.246+1806G>C, and c.634+483delT were genotyped in subjects with type 2 diabetes mellitus and normal control (n=669). By logistic and multiple regression analysis, one insertion/deletion polymorphism in the 3' end (c.634+483delT) of FABP3 appeared to be weakly associated with increased risk of type 2 diabetes (OR=1.78-1.94, P=0.03-0.04) and waist/hip ratio (WHR) (P=0.03).