Haplotypes in the promoter region of the ADIPOQ gene are associated with increased diabetes risk in a German Caucasian population

Adiponectin, which is encoded by the ADIPOQ gene, has been shown to modulate insulin sensitivity and glucose homeostasis. Plasma adiponectin levels are decreased in type 2 diabetes and obesity. Genetic variations within the ADIPOQ gene are associated with decreased adiponectin hormone levels. To analyze specific single-nucleotide polymorphisms (SNPs) and their association with T21), 365 German subjects with T2D and 323 control subjects were screened. Three common SNPs - + 45T > G in exon 2, and 2 promoter variants SNPs - 11391 G > A and - 11377C > G were analyzed. We found that the variant allele of SNP -11391G > A was significantly more frequent in the diabetic patient group than in the control group (p = 0.003). Carrying the haplotype of SNP -11391A and SNP -11377C was associated with a 1.50-fold (p = 0.03) increase in diabetes risk. The combination of the A-C haplotype and the G-C haplotype was associated with significantly elevated diabetes risk (OR=2.82 (95% Cl: 1.35-5.91), p = 0.006) after correction for BMI and age. Our observations suggest that diploid combinations of haplotype in the adiponectin gene promoter region contribute to the genetic risk of T21) in individuals from a German Caucasian population.