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Volumn 23, Issue 24, 2014, Pages 6616-6633

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

(351)  Wang, Zhaoming a,b   Zhu, Bin a   Zhang, Mingfeng a   Parikh, Hemang a   Jia, Jinping a   Chung, Charles C a,b   Sampson, Joshua N a   Hoskins, Jason W a   Hutchinson, Amy a,b   Burdette, Laurie a,b   Ibrahim, Abdisamad a   Hautman, Christopher a,b   Raj, Preethi S a   Abnet, Christian C a   Adjei, Andrew A c,d   Ahlbom, Anders e   Albanes, Demetrius a   Allen, Naomi E f   Ambrosone, Christine B g   Aldrich, Melinda h,i   more..


Author keywords

[No Author keywords available]

Indexed keywords

TELOMERASE REVERSE TRANSCRIPTASE; CLPTM1L PROTEIN, HUMAN; MEMBRANE PROTEIN; TELOMERASE; TERT PROTEIN, HUMAN; TUMOR PROTEIN;

EID: 84938138638     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu363     Document Type: Article
Times cited : (88)

References (89)
  • 11
    • 84872306296 scopus 로고    scopus 로고
    • Association between TERT-CLPTM1L rs401681[C] allele and NMSC cancer risk: a meta-analysis including 45,184 subjects
    • Yang, X., Yang, B., Li, B. and Liu, Y. (2013) Association between TERT-CLPTM1L rs401681[C] allele and NMSC cancer risk: a meta-analysis including 45,184 subjects. Arch. Dermatol. Res., 1, 49-52.
    • (2013) Arch. Dermatol. Res. , vol.1 , pp. 49-52
    • Yang, X.1    Yang, B.2    Li, B.3    Liu, Y.4
  • 17
    • 0034805276 scopus 로고    scopus 로고
    • A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis
    • Yamamoto, K., Okamoto, A., Isonishi, S., Ochiai, K. and Ohtake, Y. (2001) A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis. Biochem. Biophys. Res. Commun., 280, 1148-1154.
    • (2001) Biochem. Biophys. Res. Commun. , vol.280 , pp. 1148-1154
    • Yamamoto, K.1    Okamoto, A.2    Isonishi, S.3    Ochiai, K.4    Ohtake, Y.5
  • 19
    • 84871586597 scopus 로고    scopus 로고
    • CLPTM1L is overexpressed in lung cancer and associated with apoptosis
    • Ni, Z., Tao, K., Chen, G., Chen, Q., Tang, J., Luo, X., Yin, P. and Wang, X. (2012) CLPTM1L is overexpressed in lung cancer and associated with apoptosis. PLoS ONE, 7, e52598.
    • (2012) PLoS ONE , vol.7
    • Ni, Z.1    Tao, K.2    Chen, G.3    Chen, Q.4    Tang, J.5    Luo, X.6    Yin, P.7    Wang, X.8
  • 21
    • 84894226710 scopus 로고    scopus 로고
    • CRR9/CLPTM1LRegulates Cell Survival Signaling and Is Required for Ras Transformation and Lung Tumorigenesis
    • James, M.A., Vikis, H.G., Tate, E., Rymaszewski, A.L. and You, M. (2014) CRR9/CLPTM1LRegulates Cell Survival Signaling and Is Required for Ras Transformation and Lung Tumorigenesis. Cancer Res., 74, 1116-1127.
    • (2014) Cancer Res. , vol.74 , pp. 1116-1127
    • James, M.A.1    Vikis, H.G.2    Tate, E.3    Rymaszewski, A.L.4    You, M.5
  • 22
    • 84879357878 scopus 로고    scopus 로고
    • Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
    • Ballew, B.J. and Savage, S.A. (2013) Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev. Hematol., 6, 327-337.
    • (2013) Expert Rev. Hematol. , vol.6 , pp. 327-337
    • Ballew, B.J.1    Savage, S.A.2
  • 25
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Genomes. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 29
    • 38449085735 scopus 로고    scopus 로고
    • Telomere dysfunction, genome instability and cancer
    • Cheung, A.L. and Deng, W. (2008) Telomere dysfunction, genome instability and cancer. Front. Biosci., 13, 2075-2090.
    • (2008) Front. Biosci. , vol.13 , pp. 2075-2090
    • Cheung, A.L.1    Deng, W.2
  • 30
    • 77951133257 scopus 로고    scopus 로고
    • Alternative lengthening of telomeres: models, mechanisms and implications
    • Cesare, A.J. and Reddel, R.R. (2010) Alternative lengthening of telomeres: models, mechanisms and implications. Nat. Rev. Genet., 11, 319-330.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 319-330
    • Cesare, A.J.1    Reddel, R.R.2
  • 31
    • 0031010342 scopus 로고    scopus 로고
    • Asurvey of telomerase activity in human cancer.
    • Shay, J.W. and Bacchetti, S. (1997)Asurvey of telomerase activity in human cancer. Eur. J. Cancer, 33, 787-791.
    • (1997) Eur. J. Cancer , vol.33 , pp. 787-791
    • Shay, J.W.1    Bacchetti, S.2
  • 32
    • 84862812237 scopus 로고    scopus 로고
    • Surrogate tissue telomere length and cancer risk: shorter or longer?
    • Hou, L., Zhang, X., Gawron, A.J. and Liu, J. (2012) Surrogate tissue telomere length and cancer risk: shorter or longer? Cancer Lett., 319, 130-135.
    • (2012) Cancer Lett. , vol.319 , pp. 130-135
    • Hou, L.1    Zhang, X.2    Gawron, A.J.3    Liu, J.4
  • 36
    • 0027993344 scopus 로고
    • Genetic determination of telomere size in humans: a twin study of three age groups
    • Slagboom, P.E., Droog, S. andBoomsma, D.I. (1994) Genetic determination of telomere size in humans: a twin study of three age groups. Am. J. Hum. Genet., 55, 876-882.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 876-882
    • Slagboom, P.E.1    Droog, S.2    Boomsma, D.I.3
  • 38
    • 79953733129 scopus 로고    scopus 로고
    • Genetic variants in telomere-maintaining genes and skin cancer risk
    • Nan, H., Qureshi, A.A., Prescott, J., De Vivo, I. and Han, J. (2011) Genetic variants in telomere-maintaining genes and skin cancer risk. Hum. Genet., 129, 247-253.
    • (2011) Hum. Genet. , vol.129 , pp. 247-253
    • Nan, H.1    Qureshi, A.A.2    Prescott, J.3    De Vivo, I.4    Han, J.5
  • 39
    • 84860331088 scopus 로고    scopus 로고
    • hTERTcancer risk genotypes are associated with telomere length.
    • Melin, B.S., Nordfjall, K., Andersson, U. and Roos, G. (2012)hTERTcancer risk genotypes are associated with telomere length. Genet. Epidemiol., 36, 368-372.
    • (2012) Genet. Epidemiol. , vol.36 , pp. 368-372
    • Melin, B.S.1    Nordfjall, K.2    Andersson, U.3    Roos, G.4
  • 40
    • 33745159397 scopus 로고    scopus 로고
    • Ets2 binding site single nucleotide polymorphism at the hTERT gene promoter-effect on telomerase expression and telomere length maintenance in non-small cell lung cancer
    • Hsu, C.P., Hsu, N.Y., Lee, L.W. and Ko, J.L. (2006) Ets2 binding site single nucleotide polymorphism at the hTERT gene promoter-effect on telomerase expression and telomere length maintenance in non-small cell lung cancer. Eur. J. Cancer, 42, 1466-1474.
    • (2006) Eur. J. Cancer , vol.42 , pp. 1466-1474
    • Hsu, C.P.1    Hsu, N.Y.2    Lee, L.W.3    Ko, J.L.4
  • 45
    • 79960929526 scopus 로고    scopus 로고
    • A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese
    • Hu, Z., Wu, C., Shi, Y., Guo, H., Zhao, X., Yin, Z., Yang, L., Dai, J., Hu, L., Tan, W. et al. (2011) A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nat. Genet., 43, 792-796.
    • (2011) Nat. Genet. , vol.43 , pp. 792-796
    • Hu, Z.1    Wu, C.2    Shi, Y.3    Guo, H.4    Zhao, X.5    Yin, Z.6    Yang, L.7    Dai, J.8    Hu, L.9    Tan, W.10
  • 46
  • 47
    • 80053166661 scopus 로고    scopus 로고
    • Novel genetic variants in the chromosome 5p15.33 region associate with lung cancer risk
    • Pande, M., Spitz, M.R., Wu, X., Gorlov, I.P., Chen, W.V. and Amos, C.I. (2011) Novel genetic variants in the chromosome 5p15.33 region associate with lung cancer risk. Carcinogenesis, 32, 1493-1499.
    • (2011) Carcinogenesis , vol.32 , pp. 1493-1499
    • Pande, M.1    Spitz, M.R.2    Wu, X.3    Gorlov, I.P.4    Chen, W.V.5    Amos, C.I.6
  • 48
    • 77957575149 scopus 로고    scopus 로고
    • Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'
    • Johnatty, S.E., Beesley, J., Chen, X., Macgregor, S., Duffy, D.L., Spurdle, A.B., deFazio, A., Gava, N., Webb, P.M., Rossing, M.A. et al. (2010) Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. PLoS Genet., 6, e1001016.
    • (2010) PLoS Genet. , vol.6
    • Johnatty, S.E.1    Beesley, J.2    Chen, X.3    Macgregor, S.4    Duffy, D.L.5    Spurdle, A.B.6    deFazio, A.7    Gava, N.8    Webb, P.M.9    Rossing, M.A.10
  • 49
    • 84864471078 scopus 로고    scopus 로고
    • Fine-mapping of a region of chromosome 5p15.33 (TERT-CLPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated with glioma susceptibility in a Chinese population
    • Zhao, Y., Chen, G., Song, X., Chen, H., Mao, Y. and Lu, D. (2012) Fine-mapping of a region of chromosome 5p15.33 (TERT-CLPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated with glioma susceptibility in a Chinese population. Int. J. Cancer, 131, 1569-1576.
    • (2012) Int. J. Cancer , vol.131 , pp. 1569-1576
    • Zhao, Y.1    Chen, G.2    Song, X.3    Chen, H.4    Mao, Y.5    Lu, D.6
  • 55
    • 84890172667 scopus 로고    scopus 로고
    • Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements
    • Grundberg, E., Meduri, E., Sandling, J.K., Hedman, A.K., Keildson, S., Buil, A., Busche, S., Yuan, W., Nisbet, J., Sekowska, M. et al. (2013) Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am. J. Hum. Genet., 93, 876-890.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 876-890
    • Grundberg, E.1    Meduri, E.2    Sandling, J.K.3    Hedman, A.K.4    Keildson, S.5    Buil, A.6    Busche, S.7    Yuan, W.8    Nisbet, J.9    Sekowska, M.10
  • 56
    • 59149084538 scopus 로고    scopus 로고
    • The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores
    • Irizarry, R.A., Ladd-Acosta, C., Wen, B., Wu, Z., Montano, C., Onyango, P., Cui, H., Gabo, K., Rongione, M., Webster, M. et al. (2009) The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores. Nat. Genet., 41, 178-186.
    • (2009) Nat. Genet. , vol.41 , pp. 178-186
    • Irizarry, R.A.1    Ladd-Acosta, C.2    Wen, B.3    Wu, Z.4    Montano, C.5    Onyango, P.6    Cui, H.7    Gabo, K.8    Rongione, M.9    Webster, M.10
  • 57
    • 84867145980 scopus 로고    scopus 로고
    • On the presence and role of human gene-bodyDNAmethylation
    • Jjingo, D., Conley, A.B., Yi, S.V., Lunyak, V.V. and Jordan, I.K. (2012) On the presence and role of human gene-bodyDNAmethylation. Oncotarget, 3, 462-474.
    • (2012) Oncotarget , vol.3 , pp. 462-474
    • Jjingo, D.1    Conley, A.B.2    Yi, S.V.3    Lunyak, V.V.4    Jordan, I.K.5
  • 58
    • 0025145277 scopus 로고
    • 5-Methylcytosine as an endogenousmutagen in thehumanLDLreceptor and p53 genes
    • Rideout, W.M. III, Coetzee, G.A., Olumi, A.F. and Jones, P.A. (1990) 5-Methylcytosine as an endogenousmutagen in thehumanLDLreceptor and p53 genes. Science, 249, 1288-1290.
    • (1990) Science , vol.249 , pp. 1288-1290
    • Rideout, W.M.1    Coetzee, G.A.2    Olumi, A.F.3    Jones, P.A.4
  • 60
    • 84875745673 scopus 로고    scopus 로고
    • Interplay between the cancer genome and epigenome
    • Shen, H. and Laird, P.W. (2013) Interplay between the cancer genome and epigenome. Cell, 153, 38-55.
    • (2013) Cell , vol.153 , pp. 38-55
    • Shen, H.1    Laird, P.W.2
  • 62
    • 84894054918 scopus 로고    scopus 로고
    • Genome-wide association study identifies multiple loci associated with bladder cancer risk
    • Figueroa JD, Y.Y., Siddiq, A., Garcia-Closas, M., Chatterjee, N. et al. (2014) Genome-wide association study identifies multiple loci associated with bladder cancer risk. Hum. Mol. Genet., 23, 1387-1398.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 1387-1398
    • Figueroa, J.D.1    Siddiq, A.2    Garcia-Closas, M.3    Chatterjee, N.4
  • 66
    • 77956623860 scopus 로고    scopus 로고
    • A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma
    • Abnet, C.C., Freedman, N.D., Hu, N., Wang, Z., Yu, K., Shu, X.O., Yuan, J.M., Zheng, W., Dawsey, S.M., Dong, L.M. et al. (2010) A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Nat. Genet., 42, 764-767.
    • (2010) Nat. Genet. , vol.42 , pp. 764-767
    • Abnet, C.C.1    Freedman, N.D.2    Hu, N.3    Wang, Z.4    Yu, K.5    Shu, X.O.6    Yuan, J.M.7    Zheng, W.8    Dawsey, S.M.9    Dong, L.M.10
  • 69
  • 73
    • 84655162046 scopus 로고    scopus 로고
    • Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations
    • Wu, C., Miao, X., Huang, L., Che, X., Jiang, G., Yu, D., Yang, X., Cao, G., Hu, Z., Zhou, Y. et al. (2012) Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. Nat. Genet., 44, 62-66.
    • (2012) Nat. Genet. , vol.44 , pp. 62-66
    • Wu, C.1    Miao, X.2    Huang, L.3    Che, X.4    Jiang, G.5    Yu, D.6    Yang, X.7    Cao, G.8    Hu, Z.9    Zhou, Y.10
  • 78
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • Marchini, J. and Howie, B. (2010) Genotype imputation for genome-wide association studies. Nat. Rev. Genet., 11, 499-511.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 79
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • Marchini, J., Howie, B., Myers, S., McVean, G. and Donnelly, P. (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet., 39, 906-913.
    • (2007) Nat. Genet. , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 80
    • 33845368295 scopus 로고    scopus 로고
    • SequenceLDhot: detecting recombination hotspots
    • Fearnhead, P. (2006) SequenceLDhot: detecting recombination hotspots. Bioinformatics, 22, 3061-3066.
    • (2006) Bioinformatics , vol.22 , pp. 3061-3066
    • Fearnhead, P.1
  • 81
    • 0036433716 scopus 로고    scopus 로고
    • Approximate likelihood methods for estimating local recombination rates
    • Fearnhead, P. and Donnelly, P. (2002) Approximate likelihood methods for estimating local recombination rates. J. R. Stat. Soc., 64, 657-680.
    • (2002) J. R. Stat. Soc. , vol.64 , pp. 657-680
    • Fearnhead, P.1    Donnelly, P.2
  • 82
    • 0347361674 scopus 로고    scopus 로고
    • Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data
    • Li, N. and Stephens, M. (2003) Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics, 165, 2213-2233.
    • (2003) Genetics , vol.165 , pp. 2213-2233
    • Li, N.1    Stephens, M.2
  • 84
    • 62649155943 scopus 로고    scopus 로고
    • A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
    • Browning, B.L. and Browning, S.R. (2009) A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet., 84, 210-223.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 210-223
    • Browning, B.L.1    Browning, S.R.2
  • 85
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • Ward, L.D. and Kellis, M. (2012) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res., 40, D930-934.
    • (2012) Nucleic Acids Res. , vol.40 , pp. D930-934
    • Ward, L.D.1    Kellis, M.2
  • 88
    • 0029791403 scopus 로고    scopus 로고
    • Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
    • Hebsgaard, S.M., Korning, P.G., Tolstrup, N., Engelbrecht, J., Rouze, P. and Brunak, S. (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res., 24, 3439-3452.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 3439-3452
    • Hebsgaard, S.M.1    Korning, P.G.2    Tolstrup, N.3    Engelbrecht, J.4    Rouze, P.5    Brunak, S.6
  • 89
    • 0001677717 scopus 로고
    • Controlling the false discovery rate-a practical and powerful approach to multiple testing
    • Benjamini, Y. and Hochberg, Y. (1995) Controlling the false discovery rate-a practical and powerful approach to multiple testing. J. R. Stat. Soc. B, 57, 289-300.
    • (1995) J. R. Stat. Soc. B , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2


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