Telomere structure and maintenance gene variants and risk of five cancer types

被引：47

作者：

Karami, Sara ^{[1
]}

Han, Younghun ^{[2
]}

Pande, Mala ^{[3
]}

Cheng, Iona ^{[4
,5
]}

Rudd, James ^{[1
]}

Pierce, Brandon L. ^{[6
,7
,8
]}

Nutter, Ellen L. ^{[1
]}

Schumacher, Fredrick R. ^{[9
]}

Kote-Jarai, Zsofia ^{[10
,11
]}

Lindstrom, Sara ^{[12
]}

Witte, John S. ^{[13
,14
]}

Fang, Shenying ^{[15
]}

Han, Jiali ^{[16
]}

Kraft, Peter ^{[17
]}

Hunter, David J. ^{[17
]}

Song, Fengju ^{[18
]}

Hung, Rayjean J. ^{[19
]}

McKay, James ^{[20
]}

Gruber, Stephen B. ^{[9
]}

Chanock, Stephen J. ^{[21
]}

Risch, Angela ^{[22
,23
]}

Shen, Hongbing ^{[24
]}

Haiman, Christopher A. ^{[9
]}

Boardman, Lisa ^{[25
]}

Ulrich, Cornelia M. ^{[26
,27
]}

Casey, Graham ^{[9
]}

Peters, Ulrike ^{[27
]}

Al Olama, Ali Amin ^{[28
]}

Berchuck, Andrew ^{[29
]}

Berndt, Sonja I. ^{[21
]}

Bezieau, Stephane ^{[30
]}

Brennan, Paul ^{[20
]}

Brenner, Hermann ^{[31
]}

Brinton, Louise ^{[21
]}

Caporaso, Neil ^{[21
]}

Chan, Andrew T. ^{[32
,33
,34
]}

Chang-Claude, Jenny ^{[35
]}

Christiani, David C. ^{[12
]}

Cunningham, Julie M. ^{[25
]}

Easton, Douglas ^{[28
,36
]}

Eeles, Rosalind A. ^{[10
,11
]}

Eisen, Timothy ^{[37
]}

Gala, Manish ^{[32
]}

Gallinger, Steven J. ^{[19
]}

Gayther, Simon A. ^{[9
]}

Goode, Ellen L. ^{[25
]}

Gronberg, Henrik ^{[38
]}

Henderson, Brian E. ^{[9
]}

Houlston, Richard ^{[39
]}

Joshi, Amit D. ^{[17
]}

机构：

[1] Geisel Sch Med Dartmouth, Dept Epidemiol, Lebanon, NH USA

[2] Geisel Sch Med Dartmouth, Dept Biomed Data Sci, Lebanon, NH USA

[3] Univ Texas MD Anderson Canc Ctr, Dept Gastroenterol Hepatol & Nutr, Houston, TX 77030 USA

[4] Canc Prevent Inst Calif, Fremont, CA USA

[5] Stanford Canc Inst, Stanford, CA USA

[6] Univ Chicago, Dept Publ Hlth Sci, Chicago, IL 60637 USA

[7] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[8] Univ Chicago, Ctr Comprehens Canc, Chicago, IL 60637 USA

[9] Univ Southern Calif, Keck Sch Med, Norris Comprehens Canc Ctr, Dept Prevent Med, Los Angeles, CA USA

[10] Inst Canc Res, Oncogenet Team, London, England

[11] Royal Marsden NHS Fdn Trust, London, England

[12] Harvard TH Sch Publ Hlth, Program Genet Epidemiol & Stat Genet, Boston, MA USA

[13] Univ Calif San Francisco, Dept Epidemiol & Biostat, Div Genet & Canc Epidemiol, San Francisco, CA 94143 USA

[14] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

[15] Univ Texas MD Anderson Canc Ctr, Dept Surg Oncol, Houston, TX 77030 USA

[16] Indiana Univ, Dept Epidemiol, Fairbanks Sch Publ Hlth, Simon Canc Ctr, Indianapolis, IN 46204 USA

[17] Harvard Sch Publ Hlth, Dept Epidemiol & Biostat, Boston, MA USA

[18] Tianjin Med Univ, Canc Inst & Hosp, Natl Clin Res Ctr Canc, Dept Epidemiol & Biostat,Key Lab Canc Prevent & T, Tianjin, Peoples R China

[19] Univ Toronto, Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada

[20] Int Agcy Res Canc, Genet Epidemiol Grp, Genet Canc Susceptibil Grp, Lyon, France

[21] NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[22] German Canc Res Ctr, Div Epigen & Canc Risk Factors, Heidelberg, Germany

[23] German Ctr Lung Res DZL, TLRC H, Heidelberg, Germany

[24] Nanjing Med Univ, Dept Epidemiol & Biostat, Collaborat Innovat Ctr Canc Med,Sch Publ Hlth, Jiangsu Key Lab Canc Biomarkers Prevent & Treatme, Nanjing, Jiangsu, Peoples R China

[25] Mayo Clin, Rochester, MN USA

[26] Huntsman Canc Inst, Salt Lake City, UT USA

[27] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA

[28] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[29] Duke Univ, Dept Obstet & Gynecol, Durham, NC USA

[30] CHU Nantes, Serv Genet Med, Nantes, France

[31] Deutsch Krebsforschungszentrum, Klin Epidemiol & Alternsforsch, Heidelberg, Germany

[32] Massachusetts Gen Hosp, Div Gastroenterol, Boston, MA 02114 USA

[33] Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA

[34] Harvard Med Sch, Boston, MA USA

[35] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[36] Univ Cambridge, Dept Oncol, Cambridge, England

[37] Addenbrookes Hosp, Cambridge Biomed Campus, Cambridge, England

[38] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[39] Inst Canc Res, London, England

[40] Univ Hawaii, Ctr Canc, Div Epidemiol, Honolulu, HI 96822 USA

[41] Univ Warwick, Warwick Med Sch, Coventry, W Midlands, England

[42] Univ Manchester, Inst Populat Hlth, Manchester, Lancs, England

[43] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA

[44] Yale Sch Publ Hlth, New Haven, CT USA

[45] Univ Virginia, Charlottesville, VA USA

[46] Univ Ottawa, Ottawa Hosp, Res Inst, Div Hematol, Ottawa, ON, Canada

[47] Vanderbilt Univ, Sch Med, Vanderbilt Epidemiol Ctr, Nashville, TN 37212 USA

[48] Vanderbilt Univ, Sch Med, Dept Med, Div Epidemiol, Nashville, TN 37212 USA

来源：

INTERNATIONAL JOURNAL OF CANCER | 2016年 / 139卷 / 12期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

telomere structure; telomere maintenance; cancer risk; GWAS; meta-analysis; lung cancer; breast cancer; ovarian cancer; prostate cancer; colorectal cancer; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; CHROMOSOME; 5P15.33; COLORECTAL-CANCER; OVARIAN-CANCER; IDENTIFIES; METAANALYSIS; LENGTH; IMPUTATION; BREAST;

D O I：

10.1002/ijc.30288

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded by TERC. Loci in the TERT and adjoining CLPTM1L region are associated with risk of multiple cancers. We therefore investigated associations between variants in 22 telomere structure and maintenance gene regions and colorectal, breast, prostate, ovarian, and lung cancer risk. We performed subset-based meta-analyses of 204,993 directly-measured and imputed SNPs among 61,851 cancer cases and 74,457 controls of European descent. Independent associations for SNP minor alleles were identified using sequential conditional analysis (with gene-level p value cutoffs <= 3.08 X 10(-5)). Of the thirteen independent SNPs observed to be associated with cancer risk, novel findings were observed for seven loci. Across the DCLRE1B region, rs974494 and rs12144215 were inversely associated with prostate and lung cancers, and colorectal, breast, and prostate cancers, respectively. Across the TERC region, rs75316749 was positively associated with colorectal, breast, ovarian, and lung cancers. Across the DCLRE1B region, rs974404 and rs12144215 were inversely associated with prostate and lung cancers, and colorectal, breast, and prostate cancers, respectively. Near POT1, rs116895242 was inversely associated with colorectal, ovarian, and lung cancers, and RTEL1 rs34978822 was inversely associated with prostate and lung cancers. The complex association patterns in telomere-related genes across cancer types may provide insight into mechanisms through which telomere dysfunction in different tissues influences cancer risk.

引用

页码：2655 / 2670

页数：16

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