RGD Reference Report - DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women. - Rat Genome Database

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DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women.

Authors: Ludwig, EH  Mahley, RW  Palaoglu, E  Ozbayrakci, S  Balestra, ME  Borecki, IB  Innerarity, TL  Farese RV, JR 
Citation: Ludwig EH, etal., Clin Genet. 2002 Jul;62(1):68-73.
RGD ID: 1625599
Pubmed: PMID:12123490   (View Abstract at PubMed)

Triglyceride synthesis is catalyzed by acyl CoA:diacylglycerol acyltransferases (DGAT), microsomal enzymes that use diacylglycerol and fatty acyl CoAs as substrates. Because DGAT1 expression is up-regulated during adipocyte differentiation and DGAT1 deficiency is associated with leanness in mice, we hypothesized that alterations in DGAT1 expression may affect human body weight. We identified five polymorphisms in the human DGAT1 promoter and 5' non-coding sequence in a random Turkish population. Functional analysis of one common variant, C79T, revealed reduced promoter activity for the 79T allele in cultured cell lines. In 476 Turkish women, the 79T allele was associated with lower body mass index (BMI) (p = 0.004), conferring an odds ratio of 2.0 (95% CI = 1.30-3.07, p = 0.0001) for BMI

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Decreased body mass index  IAGP 1625599DNA:SNP: :79C>T (human)RGD 
Hypotension  IAGP 1625599DNA:SNP: :79C>T (human)RGD 
Increased HDL cholesterol concentration  IAGP 1625599DNA:SNP: :79C>T (human)RGD 
Objects Annotated

Genes (Homo sapiens)
DGAT1  (diacylglycerol O-acyltransferase 1)


Additional Information