Mean leucocyte telomere length (LTL) has been associated with cancer and several age-associated diseases. Common variants within or near genes known to be involved in telomere biology (TERT, TERC, RTEL1) have been associated with mean LTLs in genome-wide association studies (GWAS).1 2 Rare variants in these genes have also been found to cosegregate with short telomere lengths and lung disease in familial pulmonary fibrosis kindreds.3–5 Rare variants in an additional telomere-related gene, PARN (polyadenylation-specific ribonuclease deadenylation nuclease), were recently found by exome sequencing older adults with familial pulmonary fibrosis3 as well as patients with dyskeratosis congenita, a disorder of telomere biology generally affecting children.6 7 PARN has not been identified by GWAS studies as a contributor of human telomere length regulation. Here we determine if the PARN locus could have been identified...
Fonte: Journal of Medical Genetics current issue