A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. Pooley, K. A., Bojesen, S. E., Weischer, M., Nielsen, S. F., Thompson, D., Amin Al Olama, A., Michailidou, K., Tyrer, J. P., Benlloch, S., Brown, J., Audley, T., Luben, R., Khaw, K., Neal, D. E., Hamdy, F. C., Donovan, J. L., Kote-Jarai, Z., Baynes, C., Shah, M., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Yang, R., Rudolph, A., Schildkraut, J., Chang-Claude, J., Burwinkel, B., Chenevix-Trench, G., Pharoah, P. D. P., Berchuck, A., Eeles, R. A., Easton, D. F., Dunning, A. M., & Nordestgaard, B. G. Human Molecular Genetics, 22(24):5056–5064, December, 2013.
doi  abstract   bibtex   
Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the "iCOGS" custom genotyping array. All ∼200 000 iCOGS variants were analysed with TL, and those displaying associations in healthy controls (n = 15 065) were further tested in breast cancer cases (n = 11 024). We found a novel TL association (Ptrend \textless 4 × 10(-10)) at 3p14.4 close to PXK and evidence (Ptrend \textless 7 × 10(-7)) for TL loci at 6p22.1 (ZNF311) and 20q11.2 (BCL2L1). We additionally confirmed (Ptrend \textless 5 × 10(-14)) the previously reported loci at 3q26.2 (TERC), 5p15.3 (TERT) and 10q24.3 (OBFC1) and found supportive evidence (Ptrend \textless 5 × 10(-4)) for the published loci at 2p16.2 (ACYP2), 4q32.2 (NAF1) and 20q13.3 (RTEL1). SNPs tagging these loci explain TL differences of up to 731 bp (corresponding to 18% of total TL in healthy individuals), however, they display little direct evidence for association with breast, ovarian or prostate cancer risks.
@article{pooley_genome-wide_2013,
	title = {A genome-wide association scan ({GWAS}) for mean telomere length within the {COGS} project: identified loci show little association with hormone-related cancer risk},
	volume = {22},
	issn = {1460-2083},
	shorttitle = {A genome-wide association scan ({GWAS}) for mean telomere length within the {COGS} project},
	doi = {10.1093/hmg/ddt355},
	abstract = {Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the "iCOGS" custom genotyping array. All ∼200 000 iCOGS variants were analysed with TL, and those displaying associations in healthy controls (n = 15 065) were further tested in breast cancer cases (n = 11 024). We found a novel TL association (Ptrend {\textless} 4 × 10(-10)) at 3p14.4 close to PXK and evidence (Ptrend {\textless} 7 × 10(-7)) for TL loci at 6p22.1 (ZNF311) and 20q11.2 (BCL2L1). We additionally confirmed (Ptrend {\textless} 5 × 10(-14)) the previously reported loci at 3q26.2 (TERC), 5p15.3 (TERT) and 10q24.3 (OBFC1) and found supportive evidence (Ptrend {\textless} 5 × 10(-4)) for the published loci at 2p16.2 (ACYP2), 4q32.2 (NAF1) and 20q13.3 (RTEL1). SNPs tagging these loci explain TL differences of up to 731 bp (corresponding to 18\% of total TL in healthy individuals), however, they display little direct evidence for association with breast, ovarian or prostate cancer risks.},
	language = {eng},
	number = {24},
	journal = {Human Molecular Genetics},
	author = {Pooley, Karen A. and Bojesen, Stig E. and Weischer, Maren and Nielsen, Sune F. and Thompson, Deborah and Amin Al Olama, Ali and Michailidou, Kyriaki and Tyrer, Jonathan P. and Benlloch, Sara and Brown, Judith and Audley, Tina and Luben, Robert and Khaw, K.-T. and Neal, David E. and Hamdy, Freddie C. and Donovan, Jenny L. and Kote-Jarai, Zsofia and Baynes, Caroline and Shah, Mitul and Bolla, Manjeet K. and Wang, Qin and Dennis, Joe and Dicks, Ed and Yang, Rongxi and Rudolph, Anja and Schildkraut, Joellen and Chang-Claude, Jenny and Burwinkel, Barbara and Chenevix-Trench, Georgia and Pharoah, Paul D. P. and Berchuck, Andrew and Eeles, Rosalind A. and Easton, Douglas F. and Dunning, Alison M. and Nordestgaard, Børge G.},
	month = dec,
	year = {2013},
	pmid = {23900074},
	pmcid = {PMC3836481},
	keywords = {Case-Control Studies, Chromosome Mapping, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Neoplasms, Polymorphism, Single Nucleotide, Risk, Telomere, Telomere Homeostasis},
	pages = {5056--5064},
}

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