PMID- 16636125
OWN - NLM
STAT- MEDLINE
DCOM- 20060810
LR  - 20081121
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 91
IP  - 7
DP  - 2006 Jul
TI  - Genetic variation in the visfatin gene (PBEF1) and its relation to glucose 
      metabolism and fat-depot-specific messenger ribonucleic acid expression in 
      humans.
PG  - 2725-31
AB  - CONTEXT AND OBJECTIVE: Visfatin is a peptide suggested to play a role in glucose 
      homeostasis. In the present study, we investigated the role of genetic variation 
      in the visfatin gene in the pathophysiology of obesity/type 2 diabetes mellitus 
      (T2DM). DESIGN: The visfatin gene (PBEF1) was sequenced in DNA samples from 24 
      nonrelated Caucasian subjects. Identified genetic variants were used for 
      association analyses of T2DM in a case-control study (503 diabetic subjects and 
      476 healthy controls) and T2DM-related traits in 626 nondiabetic subjects. The 
      effect of genetic variation in the visfatin gene on its mRNA expression in a 
      subgroup of 157 nondiabetic subjects with measurements of visfatin mRNA 
      expression in visceral and sc fat depots was also analyzed. RESULTS: Seven 
      single-nucleotide polymorphisms (SNPs) and one insertion/deletion were 
      identified. Three SNPs (rs9770242, -948G-->T, rs4730153) that were 
      representatives of their linkage disequilibrium groups were genotyped in 
      Caucasians from Germany with a wide range of body fat distribution and insulin 
      sensitivity for association analyses. No association of T2DM with any of the 
      genotyped SNPs or their haplotypes was found. However, the ratio of visceral/sc 
      visfatin mRNA expression was associated with all three genetic polymorphisms (P < 
      0.05). Moreover, the -948G-->T variant was associated with 2-h plasma glucose and 
      fasting insulin concentrations (P < 0.05) in nondiabetic subjects. CONCLUSIONS: 
      In conclusion, our data suggest that genetic variation in the visfatin gene may 
      have a minor effect on visceral and sc visfatin mRNA expression profiles but does 
      not play a major role in the development of obesity or T2DM.
FAU - Bottcher, Yvonne
AU  - Bottcher Y
AD  - Medical Department III, University of Leipzig, Philipp-Rosenthal-Strasse 27, 
      D-04103 Leipzig, Germany.
FAU - Teupser, Daniel
AU  - Teupser D
FAU - Enigk, Beate
AU  - Enigk B
FAU - Berndt, Janin
AU  - Berndt J
FAU - Kloting, Nora
AU  - Kloting N
FAU - Schon, Michael R
AU  - Schon MR
FAU - Thiery, Joachim
AU  - Thiery J
FAU - Bluher, Matthias
AU  - Bluher M
FAU - Stumvoll, Michael
AU  - Stumvoll M
FAU - Kovacs, Peter
AU  - Kovacs P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060424
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Blood Glucose)
RN  - 0 (Cytokines)
RN  - 0 (RNA, Messenger)
RN  - EC 2.4.2.12 (Nicotinamide Phosphoribosyltransferase)
RN  - EC 2.4.2.12 (nicotinamide phosphoribosyltransferase, human)
SB  - IM
MH  - Adipose Tissue/*chemistry
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Alleles
MH  - Blood Glucose/*metabolism
MH  - Body Mass Index
MH  - Cytokines/*genetics
MH  - Diabetes Mellitus, Type 2/genetics
MH  - Female
MH  - Gene Deletion
MH  - Gene Expression
MH  - *Genetic Variation
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Logistic Models
MH  - Male
MH  - Middle Aged
MH  - Nicotinamide Phosphoribosyltransferase
MH  - Obesity/genetics
MH  - Polymorphism, Single Nucleotide
MH  - RNA, Messenger/*analysis
EDAT- 2006/04/26 09:00
MHDA- 2006/08/11 09:00
CRDT- 2006/04/26 09:00
PHST- 2006/04/26 09:00 [pubmed]
PHST- 2006/08/11 09:00 [medline]
PHST- 2006/04/26 09:00 [entrez]
AID - jc.2006-0149 [pii]
AID - 10.1210/jc.2006-0149 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2006 Jul;91(7):2725-31. doi: 10.1210/jc.2006-0149. Epub 
      2006 Apr 24.