Association between total number of deaths, diabetes mellitus, incident cancers, and haplotypes in chromosomal region 8q24 in a prospective study

American Journal of Epidemiology

Volumn 175, Issue 6, 2012, Pages 479-487

  Guarrera, Simonetta ^a   Ricceri, Fulvio ^a,b   Polidoro, Silvia ^a   Sacerdote, Carlotta ^b,c   Allione, Alessandra ^a   Rosa, Fabio ^a   Voglino, Floriana ^a   Critelli, Rossana ^a   Russo, Alessia ^a   Vineis, Paolo ^a,d   Matullo, Giuseppe ^a,b  

^a Human Genetics Foundation   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c Centro di Prevenzione Piemonte   (Italy)

^d Imperial College London   (United Kingdom)

Author keywords

genetic pleiotrophy; haplotypes; prospective studies

Indexed keywords

CANCER; CARDIOVASCULAR DISEASE; CHROMOSOME; DIABETES; GENOTYPE; HOMOGENEITY; PLEIOTROPY; POLYMERIZATION;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER MORTALITY; CANCER RISK; CARDIOVASCULAR DISEASE; CAUSE OF DEATH; CEREBROVASCULAR DISEASE; CHROMOSOME 8Q; DIABETES MELLITUS; FALSE POSITIVE RESULT; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HEALTH DISPARITY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE REPEAT; PLEIOTROPY; PROSPECTIVE STUDY; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; CARDIOVASCULAR DISEASES; CHROMOSOMES, HUMAN, PAIR 8; DIABETES MELLITUS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PLEIOTROPY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPING TECHNIQUES; HAPLOTYPES; HOMOZYGOTE; HUMANS; ITALY; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES;

EID: 84858436413     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kwr430     Document Type: Article

References (50)

1. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Genomewide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet. 2009; 41(10):1122-1126.
2. Gudmundsson J, Sulem P, Manolescu A, et al. Genomewide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet. 2007;39(5): 631-637. (Pubitemid 46676102)
3. Kiemeney LA. Words of wisdom. Re: Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Eur Urol. 2007;52(3):920-921.
4. Thomas G, Jacobs KB, Yeager M, et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet. 2008;40(3):310-315. (Pubitemid 351311773)
5. Yeager M, Orr N, Hayes RB, et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet. 2007;39(5):645-649. (Pubitemid 46676108)
6. Neklason DW, Kerber RA, Nilson DB, et al. Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis. Cancer Res. 2008;68(21):8993-8997.
7. Tenesa A, Farrington SM, Prendergast JG, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008;40(5):631-637. (Pubitemid 351601219)
8. Tomlinson I, Webb E, Carvajal-Carmona L, et al. A genomewide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. CORGI Consortium. Nat Genet. 2007;39(8):984-988. (Pubitemid 47185182)
9. Tomlinson IP, Webb E, Carvajal-Carmona L, et al. A genomewide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. CORGI Consortium. Nat Genet. 2008;40(5):623-630. (Pubitemid 351601204)
10. Zanke BW, Greenwood CM, Rangrej J, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet. 2007;39(8):989-994. (Pubitemid 47185183)
11. Antoniou AC, Sinilnikova OM, McGuffog L, et al. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Hum Mol Genet. 2009;18(22):4442-4456.
12. Wokolorczyk D, Gliniewicz B, Sikorski A, et al. A range of cancers is associated with the rs6983267 marker on chromosome. Cancer Res. 2008;68(23):9982-9986.
13. Couch FJ, Wang X, McWilliams RR, et al. Association of breast cancer susceptibility variants with risk of pancreatic cancer. Cancer Epidemiol Biomarkers Prev. 2009;18(11): 3044-3048.
14. Wang M, Wang M, Zhang W, et al. Common genetic variants on 8q24 contribute to susceptibility to bladder cancer in a Chinese population. Carcinogenesis. 2009;30(6):991-996.
15. Park SL, Chang SC, Cai L, et al. Associations between variants of the 8q24 chromosome and nine smoking-related cancer sites. Cancer Epidemiol Biomarkers Prev. 2008;17(11):3193-3202.
16. Kiemeney LA, Thorlacius S, Sulem P, et al. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet. 2008;40(11):1307-1312.
17. He H, Nagy R, Liyanarachchi S, et al. A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res. 2009;69(2):625-631.
18. Crowther-Swanepoel D, Broderick P, Di Bernardo MC, et al. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Nat Genet. 2010; 42(2):132-136.
19. Cook MB, Graubard BI, Quraishi SM, et al. Genetic variants in the 8q24 locus and risk of testicular germ cell tumors. Hum Genet. 2008;123(4):409-418.
20. Shete S, Hosking FJ, Robertson LB, et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet. 2009;41(8):899-904.
21. Sladek R, Rocheleau G, Rung J, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445(7130):881-885.
22. Huyghe JR, Van Laer L, Hendrickx JJ, et al. Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. Am J Hum Genet. 2008; 83(3):401-407.
23. Holmans PA, Riley B, Pulver AE, et al. Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms. Mol Psychiatry. 2009; 14(8):786-795.
24. Zöllner S, Su G, Stewart WC, et al. Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNVon 8q24. Genet Epidemiol. 2009;33(4): 357-368.
25. Zandi PP, Zöllner S, Avramopoulos D, et al. Family-based SNP association study on 8q24 in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2008;147B(5):612-618. (Pubitemid 351961664)
26. Birnbaum S, Ludwig KU, Reutter H, et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet. 2009;41(4):473-477.
27. Grant SF, Wang K, Zhang H, et al. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr. 2009;155(6): 909-913.
28. Bertrand P, Bastard C, Maingonnat C, et al. Mapping of MYC breakpoints in 8q24 rearrangements involving nonimmunoglobulin partners in B-cell lymphomas. Leukemia. 2007;21(3):515-523.
29. Pomerantz MM, Ahmadiyeh N, Jia L, et al. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet. 2009;41(8):882-884.
30. Prokunina-Olsson L, Hall JL. No effect of cancer-associated SNP rs6983267 in the 8q24 region on co-expression of MYC and TCF7L2 in normal colon tissue. Mol Cancer. 2009;8(1):(doi:10.1186/1476-4598-8-96).
31. Huppi K, Volfovsky N, Runfola T, et al. The identification of microRNAs in a genomically unstable region of human chromosome 8q24. Mol Cancer Res. 2008;6(2):212-221. (Pubitemid 351342409)
32. Lu Y, Ryan SL, Elliott DJ, et al. Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. PLoS One. 2009; 4(7):e6159.
33. Pomerantz MM, Beckwith CA, Regan MM, et al. Evaluation of the 8q24 prostate cancer risk locus and MYC expression. Cancer Res. 2009;69(13):5568- 5574.
34. Gonzalez CA. The European Prospective Investigation Into Cancer and Nutrition (EPIC). Public Health Nutr. 2006; 9(1A):124-126.
35. Palli D, Berrino F, Vineis P, et al. A molecular epidemiology project on diet and cancer: the EPIC-Italy Prospective Study. Design and baseline characteristics of participants. Tumori. 2003;89(6):586-593. (Pubitemid 38155535)
36. Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-265. (Pubitemid 40202029)
37. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001;68(4):978-989. (Pubitemid 32289743)
38. Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet. 2003;73(5):1162-1169. (Pubitemid 37414228)
39. Wacholder S, Chanock S, Garcia-Closas M, et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst. 2004; 96(6):434-442. (Pubitemid 38443646)
40. Sotelo J, Esposito D, Duhagon MA, et al. Long-range enhancers on 8q24 regulate c-Myc. Proc Natl Acad Sci USA. 2010;107(7):3001-3005.
41. Wright JB, Brown SJ, Cole MD. Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer riskassociated single-nucleotide polymorphism in colorectal cancer cells. Mol Cell Biol. 2010;30(6):1411-1420.
42. Harismendy O, Frazer KA. Elucidating the role of 8q24 in colorectal cancer. Nat Genet. 2009;41(8):868-869.
43. Tuupanen S, Turunen M, Lehtonen R, et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet. 2009;41(8):885-890.
44. Cicek MS, Slager SL, Achenbach SJ, et al. Functional and clinical significance of variants localized to 8q24 in colon cancer. Cancer Epidemiol Biomarkers Prev. 2009;18(9):2492-2500.
45. Jia L, Landan G, Pomerantz M, et al. Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet. 2009; 5(8):e1000597. (doi:10.1371/journal.pgen.1000597).
46. Kindich R, Florl AR, Kamradt J, et al. Relationship of NKX3.1 and MYC gene copy number ratio and DNA hypomethylation to prostate carcinoma stage. Eur Urol. 2006;49(1):169-175. (Pubitemid 41789975)
47. Ohtsuki T, Nishitani K, Hatamochi A, et al. Analysis of methylation in the c-MYC gene in five human myeloma cell lines. Br J Haematol. 1991;77(2):172-179.
48. Beuten J, Gelfond JA, Martinez-FierroML, et al. Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men. Carcinogenesis. 2009;30(8):1372-1379.
49. Ghoussaini M, Song H, Koessler T, et al. Multiple loci with different cancer specificities within the 8q24 gene desert. UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology; UK Protect Study Collaborators. J Natl Cancer Inst. 2008;100(13): 962-966. (Pubitemid 351957516)
50. Yeager M, Xiao N, Hayes RB, et al. Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. Hum Genet. 2008;124(2):161-170.