Editors' ChoiceTELOMERES

Association Between Telomere Length and Disease—More Evidence

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Science Translational Medicine  10 Apr 2013:
Vol. 5, Issue 180, pp. 180ec59
DOI: 10.1126/scitranslmed.3006265

Bioinformatics analyses in today’s research, especially in genome-wide studies, can set one’s head spinning. A study by Codd and coauthors has this vertiginous effect. In this article, a genome-wide meta-analysis supports a causal role for leukocyte telomere variation in some age-related diseases.

The telomere is a region of repetitive nucleotide sequences at each end of a chromosome that protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. They are essential for maintaining the stability of the genome and cell, and shorter telomeres have been associated with early mortality, cancer, cardiovascular disease, obesity, and other diseases.

In the new work, the authors analyzed the genomes of 15 cohorts of patients in order to look for loci associated with telomere length—and then they replicated the analysis in an additional six cohorts. In total, leukocyte telomere length was assessed in almost 50,000 individuals. Seven loci—five new ones—exhibited statistically significant genome-wide association with telomere length. These seven then were investigated in ~22,000 patients with coronary artery disease and 67,000 controls. The result: All seven combined were significantly associated with coronary artery disease. This dizzying process distilled data from 50,000 persons, narrowed them down to seven leukocyte telomere length–associated loci, and then tested those seven for a specific disease in another 90,000 individuals.

The potential implications of these findings are exciting. In the future, clinicians might be able to assess individual risk for cardiovascular or other diseases in our aging population just by running polymerase chain reaction on their leukocyte telomeres. Do we, as individuals, want to know that information? In the case of cardiovascular disease, which has clear environmental contributions under our control, the answer would seem to be “Yes.”

V. Codd et al., Identification of seven loci affecting mean telomere length and their association with disease, Nat. Genet. 45, 422–427 (2013). [Abstract]

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