Genetic variants within telomere-associated genes, leukocyte telomere length and the risk of acute coronary syndrome in Czech women

• Acute coronary syndrome remains a major cause of mortality in females in Europe.
• Biological ageing is characterised by reduction of telomere length.
• SNPs of genes involved in telomere maintenance could affect telomere shortening.
• We have demonstrated that LTL is not associated with ACS in Czech women.

The association between leukocyte telomere length (LTL) and cardiovascular disease (CVD) has been published in many reports, although almost exclusively in men. In our study we analysed the association between LTL and five selected variants within three candidate genes (TERC rs12696304; TERF2IP rs3784929 and rs8053257; UCP2 rs659366 and rs622064), which are not only involved in telomere-length maintenance but also potentially associated with higher risk of acute coronary syndrome (ACS) in Czech women (505 cases and 642 controls). We detected significantly shorter LTL in women with ACS (P < 0.001), but the difference disappeared after multiple adjustments. We did not find any significant associations between analysed variants and LTL, except for rs622064 within the UCP2 gene, in which case AA homozygotes had a higher LTL (P < 0.04). Genotype frequencies of the analysed SNPs did not differ between controls and women with ACS. Variants within UCP2 (rs622064; CC vs. A allele carriers OR = 1.61; 95% CI: 1.21–2.15, P < 0.002) and within TERF2IP (rs8053257; A allele carriers vs. GG, OR = 1.78; 95% CI: 1.07–3.18, P < 0.03) were associated with increased risk of type 2 diabetes mellitus (T2DM). Analysed polymorphisms were not major determinants of telomere length or ACS risk in Czech females.