Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population

• Published in: Clinical endocrinology (Oxford) 2003-08, Vol.59 (2), p.175-179
• Main Authors: Weedon, Michael N., Turner, Martina, Knight, Beatrice, Clark, Penny, Hattersley, Andrew T., Frayling, Timothy M.
• Format: Article
• Language: English
• Subjects: Adult; Aromatase - genetics; Biological and medical sciences; Body Height - genetics; Chromosomes, Human, Y - genetics; Cohort Studies; Diabetes. Impaired glucose tolerance; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Etiopathogenesis. Screening. Investigations. Target tissue resistance; Female; Genotype; Humans; Insulin - blood; Insulin resistance; Insulin Resistance - genetics; Leg - anatomy & histology; Male; Medical sciences; Polymerase Chain Reaction - methods; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; United Kingdom
• ISSN: 0300-0664; 1365-2265
• DOI: 10.1046/j.1365-2265.2003.01797.x

Summary objective  To assess the association of polymorphisms in the aromatase gene (CYP19) and on the Y‐chromosome, with adult height and insulin resistance in a UK Caucasian population, after a recent report indicated these variants explain 4 cm of adult male height variation. patients and design  We performed an association study using 917 healthy UK Caucasian subjects from the Exeter Family Study, an ongoing consecutive‐birth cohort. Our study had > 85% (95% for the CYP19 variant; 85% for the Y variant) power to detect the association suggested by the previous study. measurements  Subjects’CYP19 genotype were determined using tetra‐primer PCR, and the Y‐chromosome variant genotype was identified using a restriction fragment length polymorphism (RFLP) method. Trained research nurses were responsible for measurement of height. Fasting insulin concentration was determined by an immunoenzymometric assay. results  We did not find any evidence for an effect of the CYP19 polymorphism or Y‐RFLP on adult height (P > 0·83 for both variants). In addition, there was no evidence for an effect on insulin resistance in a subset of 416 subjects (P > 0·46). conclusion  We have not confirmed the initial observation in a larger replication cohort. Our results highlight the importance of replicating initial results from genetic association studies.