PT  - JOURNAL ARTICLE
AU  - Engert, James C.
AU  - Vohl, Marie-Claude
AU  - Williams, Scott M.
AU  - Lepage, Pierre
AU  - Loredo-Osti, J C.
AU  - Faith, Janet
AU  - Doré, Carole
AU  - Renaud, Yannick
AU  - Burtt, Noël P.
AU  - Villeneuve, Amélie
AU  - Hirschhorn, Joel N.
AU  - Altshuler, David
AU  - Groop, Leif C.
AU  - Després, Jean-Pierre
AU  - Gaudet, Daniel
AU  - Hudson, Thomas J.
TI  - 5′ Flanking Variants of Resistin Are Associated With Obesity
AID  - 10.2337/diabetes.51.5.1629
DP  - 2002 May 01
TA  - Diabetes
PG  - 1629--1634
VI  - 51
IP  - 5
4099  - http://diabetes.diabetesjournals.org/content/51/5/1629.short
4100  - http://diabetes.diabetesjournals.org/content/51/5/1629.full
SO  - Diabetes2002 May 01; 51
AB  - Diabetes and obesity have long been known to be related. The recently characterized adipocyte hormone resistin (also called FIZZ3/ADSF) has been implicated as a molecular link between impaired glucose tolerance (IGT) and obesity in mice. A search for sequence variants at the human resistin locus identified nine single-nucleotide polymorphisms (SNPs) but no coding variants. An investigation into the association of these SNPs with diabetes and obesity revealed two 5′ flanking variants (g.-537 and g.-420), in strong linkage disequilibrium, that are associated with BMI. In nondiabetic individuals from the Quebec City area and the Saguenay-Lac-St-Jean region of Quebec, the g.-537 mutation (allelic frequency = 0.04) was significantly associated with an increase in BMI (P = 0.03 and P = 0.01, respectively). When the data from these two populations were combined and adjusted for age and sex, both the g.-537 (odds ratio [OR] 2.72, 95% CI 1.28–5.81) and the g.-420 variants (1.58, 1.06–2.35) were associated with an increased risk for a BMI ≥30 kg/m2. In contrast, in case/control and family-based study populations from Scandinavia, we saw no effect on BMI with either of these promoter variants. No association was seen with diabetes in any of the population samples.