Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI.
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.
Park
Kyong Soo
KS
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Shin
Hyoung Doo
HD
Park
Byung Lae
BL
Cheong
Hyun Sub
HS
Choa
Young Min
YM
Lee
Hong Kyu
HK
Lee
Jong-Young
JY
Lee
Jong-Keuk
JK
Kim
Hung Tae
HT
Han
Bok Ghee
BG
Kim
Jun Woo
JW
Koh
InSong
I
Kim
Young Jin
YJ
Kimm
Kuchan
K
Oh
Bermseok
B
D020413:3' Untranslated Regions / Q000235:genetics; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D001786:Blood Glucose / Q000032:analysis; D015992:Body Mass Index; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000502:physiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006442:Glycated Hemoglobin / Q000032:analysis; D006801:Humans; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance / Q000235:genetics; D007438:Introns / Q000235:genetics; D007723:Korea; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D012306:Risk; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000502:physiology; D014280:Triglycerides / Q000097:blood; D049629:Waist-Hip Ratio; D000099222:betaIG-H3 Protein
D020413:3' Untranslated Regions; D001786:Blood Glucose; D002784:Cholesterol; D008076:Cholesterol, HDL; D016326:Extracellular Matrix Proteins; D006442:Glycated Hemoglobin; D007328:Insulin; D016212:Transforming Growth Factor beta; D014280:Triglycerides; D000099222:betaIG-H3 Protein