PMID- 15712349 OWN - NLM STAT- MEDLINE DCOM- 20060516 LR - 20221207 IS - 1098-1004 (Electronic) IS - 1059-7794 (Linking) VI - 25 IP - 3 DP - 2005 Mar TI - Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI. PG - 322 AB - 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. CI - (c) 2005 Wiley-Liss, Inc. FAU - Park, Kyong Soo AU - Park KS AD - Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. FAU - Shin, Hyoung Doo AU - Shin HD FAU - Park, Byung Lae AU - Park BL FAU - Cheong, Hyun Sub AU - Cheong HS FAU - Choa, Young Min AU - Choa YM FAU - Lee, Hong Kyu AU - Lee HK FAU - Lee, Jong-Young AU - Lee JY FAU - Lee, Jong-Keuk AU - Lee JK FAU - Kim, Hung Tae AU - Kim HT FAU - Han, Bok Ghee AU - Han BG FAU - Kim, Jun Woo AU - Kim JW FAU - Koh, InSong AU - Koh I FAU - Kim, Young Jin AU - Kim YJ FAU - Kimm, Kuchan AU - Kimm K FAU - Oh, Bermseok AU - Oh B LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Hum Mutat JT - Human mutation JID - 9215429 RN - 0 (3' Untranslated Regions) RN - 0 (Blood Glucose) RN - 0 (Cholesterol, HDL) RN - 0 (Extracellular Matrix Proteins) RN - 0 (Glycated Hemoglobin A) RN - 0 (Insulin) RN - 0 (Transforming Growth Factor beta) RN - 0 (Triglycerides) RN - 148710-76-3 (betaIG-H3 protein) RN - 97C5T2UQ7J (Cholesterol) SB - IM MH - 3' Untranslated Regions/genetics MH - Aged MH - Alleles MH - Amino Acid Substitution MH - Blood Glucose/analysis MH - *Body Mass Index MH - Cholesterol/blood MH - Cholesterol, HDL/blood MH - Diabetes Mellitus, Type 2/blood/*genetics MH - Exons/genetics MH - Extracellular Matrix Proteins/*genetics/physiology MH - Female MH - Genetic Predisposition to Disease MH - Genotype MH - Glycated Hemoglobin/analysis MH - Humans MH - Insulin/blood MH - Insulin Resistance/genetics MH - Introns/genetics MH - Korea MH - Male MH - Middle Aged MH - Mutation, Missense MH - *Polymorphism, Genetic MH - Polymorphism, Single Nucleotide MH - Promoter Regions, Genetic/genetics MH - Risk MH - Transforming Growth Factor beta/*genetics/physiology MH - Triglycerides/blood MH - Waist-Hip Ratio EDAT- 2005/02/16 09:00 MHDA- 2006/05/17 09:00 CRDT- 2005/02/16 09:00 PHST- 2005/02/16 09:00 [pubmed] PHST- 2006/05/17 09:00 [medline] PHST- 2005/02/16 09:00 [entrez] AID - 10.1002/humu.9315 [doi] PST - ppublish SO - Hum Mutat. 2005 Mar;25(3):322. doi: 10.1002/humu.9315.