Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitus.
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).
Shin
Hyoung Doo
HD
Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, MaeHun B/D, 13 Chongro 4 Ga, Chongro-Gu, Seoul, Korea.
Kim
Lyoung Hyo
LH
Park
Byung Lae
BL
Jung
Hye Seung
HS
Cho
Young Min
YM
Moon
Min Kyong
MK
Lee
Hong Kyu
HK
Park
Kyong Soo
KS
D002352:Carrier Proteins / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D000074026:Fatty Acid Binding Protein 3; D000071438:Fatty Acid-Binding Protein 7; D050556:Fatty Acid-Binding Proteins; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins; D011110:Polymorphism, Genetic / Q000235:genetics*; D025521:Tumor Suppressor Proteins
D002352:Carrier Proteins; C493408:FABP3 protein, human; C107608:FABP7 protein, human; C493409:Fabp3 protein, mouse; D000074026:Fatty Acid Binding Protein 3; D000071438:Fatty Acid-Binding Protein 7; D050556:Fatty Acid-Binding Proteins; D009363:Neoplasm Proteins; D025521:Tumor Suppressor Proteins