Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2010) 22 S4.1

ECE2010 Symposia The aging male (3 abstracts)

Genetic aspects of ageing in men

Ilpo Huhtaniemi


Department of Surgery and Cancer, Imperial College London, London, UK.


The ageing of men is affected by gender-specific environmental and lifestyle factors. In addition, hereditary factors in the form of gene polymorphisms apparently contribute to the large interindividual variability of the basal activity and age-related decline of the male pituitary–gonadal function. Only limited information is currently available on polymorphisms in genes affecting the regulation, production, actions and metabolisms of androgens. Therefore, the assessment of selected polymorphisms in genes involved in the production, metabolism and actions of sex steroids was included in the European Male Ageing Study (EMAS), a comprehensive multi-national prospective cohort observational study. A total of 43 polymorphisms in 9 genes (AR, ESR1, ESR2, SRD5A2, CYP17A1, CYP19A1, SHBG, LHB, and LHCGR) were determined in 2749 men, aged 40–79 years, from 8 European centres, and related to the levels of selected hormones, their alterations upon ageing and phenotypic effects. In general, in ageing men, polymorphisms in the genes studied significantly influenced circulating reproductive hormone levels, but the downstream effects are apparently too small to influence secondary phenotypic parameters. More specifically, the length of the CAG repeat in exon 1 of AR correlated significantly with serum testosterone and oestradiol (E2) levels of ageing men. Weaker transcriptional activity of the AR encoded by alleles with longer CAG repeats appeared to be totally or nearly totally compensated for by higher testosterone levels. The residual phenotypic correlations (e.g. on bone density) may reflect differences in oestrogen levels/actions after aromatization of the higher testosterone levels respectively to higher E2 levels. Furthermore, our data confirm the evidence for association between polymorphisms in CYP19A1 and bone health in a male population. Only minor differences in the polymorphisms and their phenotypic effects were found between the centres.

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