Population-specific association of genes for telomere-associated proteins with longevity in an Italian population

Paolina Crocco, Roberto Barale, Giuseppina Rose, Cosmeri Rizzato, Aurelia Santoro, Francesco De Rango, Maura Carrai, Paola Fogar, Daniela Monti, Fiammetta Biondi, Laura Bucci, Rita Ostan, Federica Tallaro, Alberto Montesanto, Carlo Federico Zambon, Claudio Franceschi, Federico Canzian, Giuseppe Passarino, Daniele Campa

Research output: Contribution to journalArticlepeer-review


Leukocyte telomere length (LTL) has been observed to be hereditable and correlated with longevity. However, contrasting results have been reported in different populations on the value of LTL heritability and on how biology of telomeres influences longevity. We investigated whether the variability of genes correlated to telomere maintenance is associated with telomere length and affects longevity in a population from Southern Italy (20–106 years). For this purpose we analyzed thirty-one polymorphisms in eight telomerase-associated genes of which twelve in the genes coding for the core enzyme (TERT and TERC) and the remaining in genes coding for components of the telomerase complex (TERF1, TERF2, TERF2IP, TNKS, TNKS2 and TEP1). We did not observe (after correcting for multiple testing) statistically significant associations between SNPs and LTL, possibly suggesting a low genetic influence of the variability of these genes on LTL in the elderly. On the other hand, we found that the variability of genes encoding for TERF1 and TNKS2, not directly involved in LTL, but important for keeping the integrity of the structure, shows a significant association with longevity. This suggests that the maintenance of these chromosomal structures may be critically important for preventing, or delaying, senescence and aging. Such a correlation was not observed in a population from northern Italy that we used as an independent replication set. This discrepancy is in line with previous reports regarding both the population specificity of results on telomere biology and the differences of aging in northern and southern Italy.

Original languageEnglish
Pages (from-to)353-364
Number of pages12
Issue number3
Publication statusPublished - Jun 15 2015


  • Aging
  • Gene variability
  • Telomerase
  • Telomere

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Gerontology
  • Ageing
  • Medicine(all)


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