Mutations in the adiponectin gene in lean and obese subjects from the Swedish obese subjects cohort

• Published in: Metabolism, clinical and experimental Vol. 52; no. 7; pp. 881 - 884
• Main Authors: Ukkola, Olavi, Ravussin, Eric, Jacobson, Peter, Sjöström, Lars, Bouchard, Claude
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.07.2003; Elsevier
• Subjects: Adiponectin; Adult; Biological and medical sciences; Biotechnology; blood; Body Constitution; Body Mass Index; Cholesterol; Cholesterol - blood; Cohort Studies; Exons; Female; Fundamental and applied biological sciences. Psychology; Genetic; Genetic technics applied to diagnosis; genetics; Health. Pharmaceutical industry; Heterozygote; Homozygote; Humans; Industrial applications and implications. Economical aspects; Intercellular Signaling Peptides and Proteins; Medical Genetics and Genomics; Medical sciences; Medicinsk genetik och genomik; Metabolic diseases; Middle Aged; Obesity; Obesity - genetics; Polymorphism; Polymorphism, Genetic; Proteins; Proteins - genetics; Sweden; Europe; Human; Obesity; Statistical analysis; Nutrition disorder; Etiopathogenesis; Genotype; Adiponectin; Phenotype; Gene; Cohort study; Genetics; Mutation; Nutritional status; Comparative study
• ISSN: 0026-0495; 1532-8600
• DOI: 10.1016/S0026-0495(03)00074-X

Adiponectin (also called AdipoQ, gelatin-binding protein 28, Acrp30) DNA sequence variants were determined in 96 unrelated female subjects with severe obesity (mean body mass index [BMI], 42.3 kg/m 2) and in 96 non-obese female controls (mean BMI, 23.0 kg/m 2) from the Swedish Obese Subjects (SOS) cohort. A single base substitution (T45G) at codon 15 of exon 2 resulting in no change in amino acid (Gly15Gly) was found in equal frequencies among obese and control subjects. However, this polymorphism was associated with serum cholesterol and waist circumference ( P = .023 and .043, respectively) in the obese group. A IVS2 + G62T sequence variation was also identified, but had similar prevalence rates in obese and control subjects. Blood glucose was highest in the obese female subjects who were homozygotes for the G allele (GG) of the IVS2 + G62T polymorphism (N = 56; P = .033) and all the diabetics (n = 6) in this sample were in this group. IVS2 + G62T polymorphism was also associated with BMI ( P = .014), diastolic blood pressure ( P = .009), and sagittal diameter ( P = .032). A missense point mutation at codon 111 (Tyr111His) was not associated with any obesity-related phenotypes. In conclusion, adiponectin DNA sequence variations might play a role in the complications of morbid obesity and should be further investigated.