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Genetic polymorphisms in the transforming growth factor beta‐induced gene associated with BMI
Author(s) -
Park Kyong Soo,
Shin Hyoung Doo,
Park Byung Lae,
Cheong Hyun Sub,
Choa Young Min,
Lee Hong Kyu,
Lee JongYoung,
Lee JongKeuk,
Kim Hung Tae,
Han Bok Ghee,
Kim Jun Woo,
Koh InSong,
Kim Young Jin,
Kimm Kuchan,
Oh Bermseok
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9315
Subject(s) - biology , genetics , allele , tgfbi , body mass index , snp , genotype , minor allele frequency , population , single nucleotide polymorphism , heterozygote advantage , medicine , endocrinology , allele frequency , gene , environmental health
In an effort to identify genetic polymorphisms in potential candidate genes for type 2 diabetes mellitus (T2DM), we have sequenced the transforming growth factor beta‐induced gene ( TGFBI ), and examined the association with T2DM and diabetic phenotypes in a Korean T2DM study (775 T2DM patients and 316 normal controls). Twenty‐eight polymorphisms were identified in TGFBI . Although no significant associations were detected with the risk of T2DM, one SNP in intron 16 ( c.2011+137C > T) and one SNP in the 3' untranslated region (UTR) ( c.2589T > G ), showed significant association with the levels of insulin and body mass index (BMI) among nondiabetic controls. The lower insulin and BMI were observed in individuals who carry one or two copies of minor alleles than others. For example, the highest BMI (24.21 kg/m 2 ) in individuals with homozygote major alleles (T) of c.2589T > G ( n =99), the intermediate BMI (23.68 kg/m 2 ) in individuals with heterozygote alleles ( n =156), and the lowest BMI (22.69 kg/m 2 ) in individuals with homozygote minor alleles (G) ( n =57, P=0.005) were observed. The present study provides, for the first time, information about genetic polymorphisms in TGFBI and positive associations of those polymorphisms with levels of insulin and BMI in the Korean population. © 2005 Wiley‐Liss, Inc.