Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations

PLoS ONE

Volumn 10, Issue 4, 2015, Pages

  Etokebe, Godfrey Essien ^a   Zienolddiny, Shanbeh ^c   Kupanovac, Zeljko ^a,b   Enersen, Morten ^a   Balen, Sanja ^b   Flego, Veljko ^b   Bulat Kardum, Ljiljana ^b   Radojčić Badovinac, Anelka ^e   Skaug, Vidar ^c   Bakke, Per ^d   Haugen, Aage ^c   Dembic, Zlatko ^a  

^a UNIVERSITY OF OSLO   (Norway)

^b UNIVERSITY OF RIJEKA   (Croatia)

^c NATIONAL INSTITUTE OF OCCUPATIONAL HEALTH   (Norway)

^d UNIVERSITY OF BERGEN   (Norway)

^e UNIVERSITY OF RIJEKA   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; BAG6 GENE; CANCER RISK; CONTROLLED STUDY; CROATIAN (CITIZEN); FAM46A GENE; FEMALE; GENE; GENE DOSAGE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NON SMALL CELL LUNG CANCER; NORWEGIAN (CITIZEN); PREDICTION; SINGLE NUCLEOTIDE POLYMORPHISM; VARIABLE NUMBER OF TANDEM REPEAT; CAPILLARY ELECTROPHORESIS; CAUCASIAN; CROATIA; DNA SEQUENCE; GENETICS; HUMAN GENOME; LUNG TUMOR; MIDDLE AGED; NORWAY; PATHOLOGY; SMOKING; VERY ELDERLY;

BAG6 PROTEIN, HUMAN; CHAPERONE; DNA; FAM46A PROTEIN, HUMAN; PROTEIN;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; CARCINOMA, NON-SMALL-CELL LUNG; CROATIA; DNA; ELECTROPHORESIS, CAPILLARY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOME, HUMAN; GENOTYPE; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; MINISATELLITE REPEATS; MOLECULAR CHAPERONES; NORWAY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE ANALYSIS, DNA; SMOKING;

EID: 84928922758     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0122651     Document Type: Article

References (46)

1. Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D. Global cancer statistics. CA Cancer J Clin 2011; 61:69-90. doi: 10.3322/caac.20107 PMID: 21296855
2. Spitz MR, Hong WK, Amos CI, Wu X, Schabath MB, Dong Q, et al. A risk model for prediction of lung cancer. J Natl Cancer Inst 2007; 99:715-726. PMID: 17470739
3. Albright F, Teerlink C, Werner TL, Cannon-Albright LA. Significant evidence for a heritable contribution to cancer predisposition: a review of cancer familiality by site. BMC Cancer 2012; 12:138. doi: 10.1186/1471-2407-12-138 PMID: 22471249
4. Brennan P, Hainaut P, Boffetta P. Genetics of lung-cancer susceptibility. Lancet Oncol 2011; 12:399-408. doi: 10.1016/S1470-2045(10)70126-1 PMID: 20951091
5. Cote ML, Liu M, Bonassi S, Neri M, Schwartz AG, Christiani DC, et al. Increased risk of lung cancer in individuals with a family history of the disease: a pooled analysis from the International Lung Cancer Consortium. Eur J Cancer 2012; 48:1957-1968. doi: 10.1016/j.ejca.2012.01.038 PMID: 22436981
6. Dong J, Jin G, Wu C, Guo H, Zhou B, Lv J, et al. Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. PLoS Genet 2013; 9: e1003190. doi: 10.1371/journal.pgen.1003190 PMID: 23341777
7. Hart K, Landvik NE, Lind H, Skaug V, Haugen A, Zienolddiny S. A combination of functional polymorphisms in the CASP8, MMP1, IL10 and SEPS1 genes affects risk of non-small cell lung cancer. Lung Cancer 2011; 71:123-129. doi: 10.1016/j.lungcan.2010.04.016 PMID: 20471133
8. Rudd MF, Webb EL, Matakidou A, Sellick GS, Williams RD, Bridle H, et al. Variants in the GH-IGF axis confer susceptibility to lung cancer. Genome Res 2006; 16:693-701. PMID: 16741161
9. Timofeeva MN, Hung RJ, Rafnar T, Christiani DC, Field JK, Bickeboller H, et al. Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. Hum Mol Genet 2012; 21:4980-4995. doi: 10.1093/hmg/dds334 PMID: 22899653
10. Truong T, Sauter W, McKay JD, Hosgood HD III, Gallagher C, Amos CI, et al. coordinated association study of 10 potential lung cancer susceptibility variants. Carcinogenesis 2010; 31:625-633. doi: 10.1093/carcin/bgq001 PMID: 20106900
11. Walsh KM, Gorlov IP, Hansen HM, Wu X, Spitz MR, Zhang H, et al. Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans. Cancer Epidemiol Biomarkers Prev 2013; 22:251-260. doi: 10.1158/1055-9965.EPI-12-1007-T PMID: 23221128
12. Azzoli CG, Park BJ, Pao W, Zakowski M, Kris MG. Molecularly tailored adjuvant chemotherapy for resected non-small cell lung cancer: a time for excitement and equipoise. J Thorac Oncol 2008; 3:84-93. doi: 10.1097/JTO.0b013e31815efe24 PMID: 18166846
13. Jacobsen B, Kriegbaum MC, Santoni-Rugiu E, Ploug M. C4.4A as a biomarker in pulmonary adenocarcinoma and squamous cell carcinoma. World J Clin Oncol 2014; 5:621-632. doi: 10.5306/wjco.v5.i4.621 PMID: 25302166
14. Farhat FS, Tfayli A, Fakhruddin N, Mahfouz R, Otrock ZK, Alameddine RS, et al. Expression, prognostic and predictive impact of VEGF and bFGF in non-small cell lung cancer. Crit Rev Oncol Hematol 2012; 84:149-160. doi: 10.1016/j.critrevonc.2012.02.012 PMID: 22494932
15. Campbell L, Blackhall F, Thatcher N. Gefitinib for the treatment of non-small-cell lung cancer. Expert Opin Pharmacother 2010; 11:1343-1357. doi: 10.1517/14656566.2010.481283 PMID: 20426712
16. Gridelli C, Maione P, Bareschino MA, Schettino C, Sacco PC, Ambrosio R, et al. Erlotinib in the treatment of non-small cell lung cancer: current status and future developments. Anticancer Res 2010; 30:1301-1310. PMID: 20530444
17. Hannan AJ. TRPing up the genome: Tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease. Discov Med 2010; 10:314-321. PMID: 21034672
18. Hannan AJ. Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'. Trends Genet 2010; 26:59-65. doi: 10.1016/j.tig.2009.11.008 PMID: 20036436
19. Lindstedt BA, Ryberg D, Zienolddiny S, Khan H, Haugen A. Hras1 VNTR alleles as susceptibility markers for lung cancer: relationship to microsatellite instability in tumors. Anticancer Res 1999; 19:5523-5527. PMID: 10697610
20. Ryberg D, Lindstedt BA, Zienolddiny S, Haugen A. A hereditary genetic marker closely associated with microsatellite instability in lung cancer. Cancer Res 1995; 55:3996-3999. PMID: 7664270
21. Hu Z, Shao M, Chen Y, Zhou J, Qian J, Xu L, et al. Allele 2 of the interleukin-1 receptor antagonist gene (IL1RN∗2) is associated with a decreased risk of primary lung cancer. Cancer Lett 2006; 236:269-275. PMID: 16019127
22. Lind H, Zienolddiny S, Ryberg D, Skaug V, Phillips DH, Haugen A. Interleukin 1 receptor antagonist gene polymorphism and risk of lung cancer: a possible interaction with polymorphisms in the interleukin 1 beta gene. Lung Cancer 2005; 50:285-290. PMID: 16126303
23. Liu B, Yang L, Huang B, Cheng M, Wang H, Li Y, et al. A functional copy-number variation in MAP-KAPK2 predicts risk and prognosis of lung cancer. Am J Hum Genet 2012; 91:384-390. doi: 10.1016/j.ajhg.2012.07.003 PMID: 22883146
24. Lagali PS, Kakuk LE, Griesinger IB, Wong PW, Ayyagari R. Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. Biochem Biophys Res Commun 2002; 293:356-365. PMID: 12054608
25. Barragan I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, et al. Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs. Ann Hum Genet 2008; 72:26-34. PMID: 17803723
26. Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, et al. Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population. Clin Chim Acta 2006; 368:155-159. PMID: 16545789
27. Kuchta K, Knizewski L, Wyrwicz LS, Rychlewski L, Ginalski K. Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human. Nucleic Acids Res 2009; 37:7701-7714. doi: 10.1093/nar/gkp854 PMID: 19833706
28. Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, et al. Functional proteomics mapping of a human signaling pathway. Genome Res 2004; 14:1324-1332. PMID: 15231748
29. Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, et al. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 2006; 125:801-814. PMID: 16713569
30. Wang Y, Broderick P, Webb E, Wu X, Vijayakrishnan J, Matakidou A,et al. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet 2008; 40:1407-1409. doi: 10.1038/ng.273 PMID: 18978787
31. Wu YH, Shih SF, Lin JY. Ricin triggers apoptotic morphological changes through caspase-3 cleavage of BAT3. J Biol Chem 2004; 279:19264-19275. PMID: 14960581
32. Etokebe GE, Kuchler AM, Haraldsen G, Landin M, Osmundsen H, Dembic Z. Family-with-sequence-similarity- 46, member A (Fam46a) gene is expressed in developing tooth buds. Arch Oral Biol 2009; 54:1002-1007. doi: 10.1016/j.archoralbio.2009.08.005 PMID: 19740458
33. Etokebe GE, Jotanovic Z, Mihelic R, Jericevic BM, Nikolic T, Balen S, et al. Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6. J Orthop Res 2014.
34. Etokebe GE, Bulat-Kardum L, Munthe LA, Balen S, Dembic Z. Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with susceptibility to tuberculosis. PLoS One 2014; 9:e91385. doi: 10.1371/journal.pone.0091385 PMID: 24625963
35. Fan WC, Ting WY, Lee MC, Huang SF, Chiu CH, Lai SL, et al. Latent TB infection in newly diagnosed lung cancer patients - A multicenter prospective observational study. Lung Cancer 2014; 85:472-478. doi: 10.1016/j.lungcan.2014.07.001 PMID: 25063540
36. Jotanovic Z, Etokebe GE, Mihelic R, Heiland KM, Mulac-Jericevic B, Tijanic T, et al. Hip osteoarthritis susceptibility is associated with IL1B -511(G>A) and IL1 RN (VNTR) genotypic polymorphisms in Croatian Caucasian population. J Orthop Res 2011; 29:1137-1144. doi: 10.1002/jor.21378 PMID: 21671260
37. Jotanovic Z, Etokebe GE, Mihelic R, Kaarvatn MH, Mulac-Jericevic B, Tijanic T, et al. IL1B -511(G>A) and IL1RN (VNTR) allelic polymorphisms and susceptibility to knee osteoarthritis in Croatian population. Rheumatol Int 2012; 32:2135-2141. doi: 10.1007/s00296-011-1946-3 PMID: 21523343
38. Kaarvatn MH, Jotanovic Z, Mihelic R, Etokebe GE, Mulac-Jericevic B, Tijanic T, et al. Associations of the interleukin-1 gene locus polymorphisms with risk to hip and knee osteoarthritis: gender and subpopulation differences. Scand J Immunol 2013; 77:151-161. doi: 10.1111/sji.12016 PMID: 23216199
39. Tsukazaki T, Chiang TA, Davison AF, Attisano L, Wrana JL. SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor. Cell 1998; 95:779-791. PMID: 9865696
40. Kawabata M, Imamura T, Inoue H, Hanai J, Nishihara A, Hanyu A, et al. Intracellular signaling of the TGF-beta superfamily by Smad proteins. Ann N Y Acad Sci 1999; 886:73-82. PMID: 10667205
41. Sasaki T, Gan EC, Wakeham A, Kornbluth S, Mak TW, Okada H. HLA-B-associated transcript 3 (Bat3)/Scythe is essential for p300-mediated acetylation of p53. Genes Dev 2007; 21:848-861. PMID: 17403783
42. Kamper N, Franken S, Temme S, Koch S, Bieber T, Koch N. gamma-Interferon-regulated chaperone governs human lymphocyte antigen class II expression. FASEB J 2012; 26:104-116. doi: 10.1096/fj.11-189670 PMID: 21940994
43. Rangachari M, Zhu C, Sakuishi K, Xiao S, Karman J, Chen A, et al. Bat3 promotes T cell responses and autoimmunity by repressing Tim-3-mediated cell death and exhaustion. Nat Med 2012; 18:1394-1400. PMID: 22863785
44. Nguyen P, Bar-Sela G, Sun L, Bisht KS, Cui H, Kohn E, et al. BAT3 and SET1A form a complex with CTCFL/BORIS to modulate H3K4 histone dimethylation and gene expression. Mol Cell Biol 2008; 28:6720-6729. doi: 10.1128/MCB.00568-08 PMID: 18765639
45. Aguillon JC, Cruzat A, Aravena O, Salazar L, Llanos C, Cuchacovich M. Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution? Immunobiology 2006; 211:75-84. PMID: 16446172
46. Shih MC, Chiu YN, Hu MC, Guo IC, Chung BC. Regulation of steroid production: analysis of Cyp11a1 promoter. Mol Cell Endocrinol 2011; 336:80-84. doi: 10.1016/j.mce.2010.12.017 PMID: 21195129