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Böhme, M.* ; Grallert, H. ; Fischer, A. ; Gieger, C. ; Nitz, I.* ; Heid, I.M. ; Kohl, C.* ; Wichmann, H.-E. ; Illig, T. ; Döring, F.*

MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort.

Mol. Genet. Metab. 95, 229-232 (2008)

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Open Access Green as soon as Postprint is submitted to ZB.

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The microsomal triglyceride transfer protein (MTTP) is a key regulator in the assembly and secretion of chylomicrons and very low density lipoprotein (VLDL) in the intestine and in liver. Associations between MTTP variants and traits of the metabolic syndrome are carried out in relatively small cohorts and are not consistent. We analysed MTTP polymorphisms in 7582 participants of the KORA study cohort. Seven htSNPs covering a 52 kb region of the MTTP locus and two cSNPs (I128T, H297Q) were selected. A MTTP haplotype containing the minor allele of H297Q showed a significant decrease of −0.636 (95% CI: −1.226, −0.046; p = 0.035) BMI units in females but not in males. In comparison to homozygous H-carriers for the major allele of the MTTP H297Q polymorphism, homozygous Q297Q carriers showed a significant decrease in BMI of −0.425 BMI units (95% CI: −0.74, −0.12; p = 0.007), in waist circumference of −0.990 cm (95% CI: 1.74, −0.24; p = 0.01) and in total cholesterol of −0.039 mmol/l (95% CI: −0.07, 0; p = 0.03). Heterozygous Q-carriers displayed a reduction in BMI of −0.183 BMI unit (95% CI: −0.33, −0.04; p = 0.012), in waist circumference of −0.45 cm (95% CI: 0.8, −0.1; p = 0.01) and in total cholesterol of −0.103 mmol/l (95% CI: −0.18, −0.03; p = 0.01). Gender stratified statistics revealed a significant reduction of −0.657 BMI units (95% CI: −1.14, −0.18; p = 0.007), −1.437 cm waist circumference (95% CI: −2.55, −0.32; p = 0.01) and −0.052 mmol/l total cholesterol (95% CI: −0.1, −0.01; p = 0.03) for females homozygous for the Q297Q polymorphism. Females carrying the Q-allele showed a decrease of −0.259 BMI unit (95% CI: −0.48, −0.04; p = 0.023), −0.662 cm waist circumference (95% CI: −1.18, −0.14; p = 0.01) and −0.111 mmol/l total cholesterol (95% CI: −0.21, −0.01; p = 0.03). Our association analysis in a large population based study cohort provides evidence that the minor allele of the MTTP H297Q polymorphism is associated with lower BMI, waist circumference and total cholesterol in females but not in males.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords MTTP Polymorphisms; BMI; Waist circumference; Total cholesterol; KORA study cohort

ISSN (print) / ISBN 1096-7192

e-ISSN 1096-7192

Journal Molecular Genetics and Metabolism

Quellenangaben Volume: 95, Issue: 4, Pages: 229-232

Publisher Elsevier

Publishing Place Amsterdam

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Epidemiology (EPI)