RT Journal Article SR Electronic T1 5′ Flanking Variants of Resistin Are Associated With Obesity JF Diabetes JO Diabetes FD American Diabetes Association SP 1629 OP 1634 DO 10.2337/diabetes.51.5.1629 VO 51 IS 5 A1 Engert, James C. A1 Vohl, Marie-Claude A1 Williams, Scott M. A1 Lepage, Pierre A1 Loredo-Osti, J C. A1 Faith, Janet A1 Doré, Carole A1 Renaud, Yannick A1 Burtt, Noël P. A1 Villeneuve, Amélie A1 Hirschhorn, Joel N. A1 Altshuler, David A1 Groop, Leif C. A1 Després, Jean-Pierre A1 Gaudet, Daniel A1 Hudson, Thomas J. YR 2002 UL http://diabetes.diabetesjournals.org/content/51/5/1629.abstract 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.