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A Common variant in the telomerase RNA component is associated with short telomere length

Njajou, OT and Blackburn, EH and Pawlikowska, L and Mangino, M and Damcott, CM and Kwok, PY and Spector, TD and Newman, AB and Harris, TB and Cummings, SR and Cawthon, RM and Shuldiner, AR and Valdes, AM and Hsueh, WC (2010) A Common variant in the telomerase RNA component is associated with short telomere length. PLoS ONE, 5 (9).

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Background: Telomeres shorten as cells divide. This shortening is compensated by the enzyme telomerase. We evaluated the effect of common variants in the telomerase RNA component (TERC) gene on telomere length (TL) in the populationbased Health Aging and Body Composition (Health ABC) Study and in two replication samples (the TwinsUK Study and the Amish Family Osteoporosis Study, AFOS). Methodology: Five variants were identified in the TERC region by sequence analysis and only one SNP was common (rs2293607, G/A). The frequency of the G allele was 0.26 and 0.07 in white and black, respectively. Testing for association between TL and rs2293607 was performed using linear regression models or variance component analysis conditioning on relatedness among subjects. Results: The adjusted mean TL was significantly shorter in 665 white carriers of the G allele compared to 887 non-carriers from the Health ABC Study (4.69±0.05 kbp vs. 4.86±0.04 kbp, measured by quantitative PCR, p = 0.005). This association was replicated in another white sample from the TwinsUK Study (6.90±0.03 kbp in 301 carriers compared to 7.06±0.03 kbp in 395 non-carriers, measured by Southern blots, p = 0.009). A similar pattern of association was observed in whites from the family-based AFOS and blacks from the Health ABC cohort, although not statistically significant, possibly due to the lower allele frequency in these populations. Combined analysis using 2,953 white subjects from 3 studies showed a significant association between TL and rs2293607 (β =-0.19±0.04 kbp, p = 0.001). Conclusion: Our study shows a significant association between a common variant in TERC and TL in humans, suggesting that TERC may play a role in telomere homeostasis. © 2010 Njajou et al.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Njajou, OT
Blackburn, EH
Pawlikowska, L
Mangino, M
Damcott, CM
Kwok, PY
Spector, TD
Harris, TB
Cummings, SR
Cawthon, RM
Shuldiner, AR
Valdes, AM
Hsueh, WC
ContributionContributors NameEmailPitt UsernameORCID
Date: 1 November 2010
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 5
Number: 9
DOI or Unique Handle: 10.1371/journal.pone.0013048
Schools and Programs: School of Public Health > Epidemiology
Refereed: Yes
MeSH Headings: Adolescent; Adult; Aged; Aged, 80 and over; Aging--genetics; Aging--metabolism; Body Composition; Cohort Studies; European Continental Ancestry Group--genetics; Female; Genetic Variation; Humans; Male; Middle Aged; Osteoporosis--genetics; Osteoporosis--metabolism; Polymorphism, Single Nucleotide; RNA--genetics; RNA--metabolism; Telomerase--genetics; Telomerase--metabolism; Telomere--genetics; Telomere--metabolism; Twins--genetics; Twins--metabolism; Young Adult
Other ID: NLM PMC2946401
PubMed Central ID: PMC2946401
PubMed ID: 20885959
Date Deposited: 21 Aug 2012 14:25
Last Modified: 22 May 2019 12:55


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