结直肠癌全基因组关联分析研究进展及展望
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摘要
2018年全球有超过180万人罹患结直肠癌,严重影响人类健康。目前认为,结直肠癌的发生发展是遗传因素和环境因素共同作用的结果。其遗传因素目前尚不明确,已发表的全基因组关联分析研究(genome-wide association study,GWAS)已经发现了数十个遗传易感位点和区域。本文将对既往结直肠癌GWAS研究进行综述,讨论GWAS研究的优缺点,探讨GWAS的发展前景。
引文
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[16]STUDY C,HOULSTON R S,WEBB E,et al.Meta-analysis of genomewide association data identifies four new susceptibility loci for colorectal cancer[J].Nat Genet,2008,40(12):1426-1435.
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[23]WANG H,BURNETT T,KONO S,et al.Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A[J].Nat Commun,2014,5:4613.
[24]SCHUMACHER F R,SCHMIT S L,JIAO S,et al.Corrigendum:genomewide association study of colorectal cancer identifies six new susceptibility loci[J].Nat Commun,2015,6:8739.
[25]SHI J,ZHANG Y,ZHENG W,et al.Fine-scale mapping of 8q24locus identifies multiple independent risk variants for breast cancer[J].Int J Cancer,2016,139(6):1303-1317.
[26]TEERLINK C C,LEONGAMORNLERT D,DADAEV T,et al.Genomewide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21[J].Hum Genet,2016,135(8):923-938.
[27]GRAMPP S,PLATT J L,LAUER V,et al.Genetic variation at the8q24.21 renal cancer susceptibility locus affects HIF binding to a MYCenhancer[J].Nat Commun,2016,7:13183.
[28]TENESA A,DUNLOP M G.New insights into the aetiology of colorectal cancer from genome-wide association studies[J].Nat Rev Genet,2009,10(6):353-358.
[29]LUO K.Signaling cross talk between TGF-beta/Smad and other signaling pathways[J].Cold Spring Harb Perspect Biol,2017,9(1).
[30]LAMPROPOULOS P,ZIZI-SERMPETZOGLOU A,RIZOS S,et al.TGF-beta signalling in colon carcinogenesis[J].Cancer Lett,2012,314(1):1-7.
[31]PITTMAN A M,NARANJO S,JALAVA S E,et al.Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H[J].PLoS Genet,2010,6(9):e1001126.
[32]CLOSA A,CORDERO D,SANZ-PAMPLONA R,et al.Identification of candidate susceptibility genes for colorectal cancer through e QTLanalysis[J].Carcinogenesis,2014,35(9):2039-2046.
[33]AUMAILLEY M.The laminin family[J].Cell Adh Migr,2013,7(1):48-55.
[34]BARTOLINI A,CARDACI S,LAMBA S,et al.BCAM and LAMA5Mediate the Recognition between Tumor Cells and the Endothelium in the Metastatic Spreading of KRAS-Mutant Colorectal Cancer[J].Clin Cancer Res,2016,22(19):4923-4933.
[35]CODD V,NELSON C P,ALBRECHT E,et al.Identification of seven loci affecting mean telomere length and their association with disease[J].Nat Genet,2013,45(4):422-427.
[36]COSTANTINO L,SOTIRIOU S K,RANTALA J K,et al.Breakinduced replication repair of damaged forks induces genomic duplications in human cells[J].Science,2014,343(6166):88-91.
[37]BASS A J,LAWRENCE M S,BRACE L E,et al.Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2fusion[J].Nat Genet,2011,43(10):964-968.
[38]POWELL A E,WANG Y,LI Y,et al.The pan-ErbB negative regulator Lrig1 is an intestinal stem cell marker that functions as a tumor suppressor[J].Cell,2012,149(1):146-158.
[39]LIRK P,HOFFMANN G,RIEDER J.Inducible nitric oxide synthasetime for reappraisal[J].Curr Drug Targets Inflamm Allergy,2002,1(1):89-108.
[40]CAMPBELL A D,LAWN S,MCGARRY L C,et al.P-Rex1 cooperates with PDGFRbeta todrive cellular migration in 3Dmicroenvironments[J].PLo S One,2013,8(1):e53982.
[41]TOMLINSON I P,CARVAJAL-CARMONA L G,DOBBINS S E,et al.Multiple common susceptibility variants near BMP pathway loci GREM1,BMP4,and BMP2 explain part of the missing heritability of colorectal cancer[J].PLo S Genet,2011,7(6):e1002105.
[42]INTERNATIONAL HAPMAP C,FRAZER K A,BALLINGER D G,et al.A second generation human haplotype map of over 3.1 million SNPs[J].Nature,2007,449(7164):851-861.
[43]THEAN L F,LOW Y S,LO M,et al.Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk[J].J Med Genet,2018,55(3):181-188.
[44]权晟,张学军.全基因组关联研究的深度分析策略[J].遗传,2011,33(2):100-108.
[45]CIRULLI E T,GOLDSTEIN D B.Uncovering the roles of rare variants in common disease through whole-genome sequencing[J].Nat Rev Genet,2010,11(6):415-425.
[46]POMERANTZ M M,AHMADIYEH N,JIA L,et al.The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer[J].Nat Genet,2009,41(8):882-884.
[47]NEJENTSEVS,WALKER N,RICHESD,et al.Rare variants of IFIH1,a gene implicated in antiviral responses,protect against type 1 diabetes[J].Science,2009,324(5925):387-389.
[48]SHIEH Y,HU D,MA L,et al.Breast cancer risk prediction using a clinical risk model and polygenic risk score[J].Breast Cancer Res Treat,2016,159(3):513-525.
[49]HOSONO S,ITO H,OZE I,et al.A risk prediction model for colorectal cancer using genome-wide association study-identified polymorphisms and established risk factors among Japanese:results from two independent case-control studies[J].Eur J Cancer Prev,2016,25(6):500-507.
[50]SONG N,KIM K,SHIN A,et al.Colorectal cancer susceptibility loci and influence on survival[J].Genes Chromosomes Cancer,2018,57(12):630-637.
[51]PANDER J,VAN HUIS-TANJA L,BOHRINGER S,et al.Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine,Oxaliplatin,Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer[J].PLoS One,2015,10(7):e0131091.
[2]陈万青,孙可欣,郑荣寿,等,2014年中国分地区恶性肿瘤发病和死亡分析[J].中国肿瘤,2018,27(1):1-14.
[3]JASPERSON K W,TUOHY T M,NEKLASON D W,et al.Hereditary and familial colon cancer[J].Gastroenterology,2010,138(6):2044-2058.
[4]LICHTENSTEIN P,HOLM N V,VERKASALO P K,et al.Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden,Denmark,and Finland[J].N Engl J Med,2000,343(2):78-85.
[5]VASEN H F,WATSON P,MECKLIN J P,et al.New clinical criteria for hereditary nonpolyposis colorectal cancer(HNPCC,Lynch syndrome)proposed by the International Collaborative group on HNPCC[J].Gastroenterology,1999,116(6):1453-1456.
[6]LYNCH H T,LYNCH P M,LANSPA S J,et al.Review of the Lynch syndrome:history,molecular genetics,screening,differential diagnosis,and medicolegal ramifications[J].Clin Genet,2009,76(1):1-18.
[7]UMAR A,BOLAND C R,TERDIMAN J P,et al.Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer(Lynch syndrome)and microsatellite instability[J].J Natl Cancer Inst,2004,96(4):261-268.
[8]RUSTGI A K.The genetics of hereditary colon cancer[J].Genes Dev,2007,21(20):2525-2538.
[9]HARDY J,SINGLETON A.Genomewide association studies and human disease[J].N Engl J Med,2009,360(17):1759-1768.
[10]ZANKE B W,GREENWOOD C M,RANGREJ J,et al.Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24[J].Nat Genet,2007,39(8):989-994.
[11]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[J].Nat Genet,2007,39(8):984-988.
[12]BRODERICK P,CARVAJAL-CARMONA L,PITTMAN A M,et al.Agenome-wide association study shows that common alleles of SMAD7influence colorectal cancer risk[J].Nat Genet,2007,39(11):1315-1317.
[13]TOMLINSON I P,WEBB E,CARVAJAL-CARMONA L,et al.Agenome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3[J].Nat Genet,2008,40(5):623-630.
[14]JAEGER E,WEBB E,HOWARTH K,et al.Common genetic variants at the CRAC1(HMPS)locus on chromosome 15q13.3 influence colorectal cancer risk[J].Nat Genet,2008,40(1):26-28.
[15]TENESA A,FARRINGTON S M,PRENDERGAST J G,et al.Genomewide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21[J].Nat Genet,2008,40(5):631-637.
[16]STUDY C,HOULSTON R S,WEBB E,et al.Meta-analysis of genomewide association data identifies four new susceptibility loci for colorectal cancer[J].Nat Genet,2008,40(12):1426-1435.
[17]HOULSTON R S,CHEADLE J,DOBBINS S E,et al.Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41,3q26.2,12q13.13 and 20q13.33[J].Nat Genet,2010,42(11):973-977.
[18]CUI R,OKADA Y,JANG S G,et al.Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population[J].Gut,2011,60(6):799-805.
[19]DUNLOP M G,DOBBINS S E,FARRINGTON S M,et al.Common variation near CDKN1A,POLD3 and SHROOM2 influences colorectal cancer risk[J].Nat Genet,2012,44(7):770-776.
[20]FERNANDEZ-ROZADILLA C,CAZIER J B,TOMLINSON I P,et al.A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at1p33 and 8p12[J].BMC Genomics,2013,14:55.
[21]JIA W H,ZHANG B,MATSUO K,et al.Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer[J].Nat Genet,2013,45(2):191-196.
[22]JIANG K,SUN Y,WANG C,et al.Genome-wide association study identifies two new susceptibility loci for colorectal cancer at 5q23.3and 17q12 in Han Chinese[J].Oncotarget,2015,6(37):40327-40336.
[23]WANG H,BURNETT T,KONO S,et al.Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A[J].Nat Commun,2014,5:4613.
[24]SCHUMACHER F R,SCHMIT S L,JIAO S,et al.Corrigendum:genomewide association study of colorectal cancer identifies six new susceptibility loci[J].Nat Commun,2015,6:8739.
[25]SHI J,ZHANG Y,ZHENG W,et al.Fine-scale mapping of 8q24locus identifies multiple independent risk variants for breast cancer[J].Int J Cancer,2016,139(6):1303-1317.
[26]TEERLINK C C,LEONGAMORNLERT D,DADAEV T,et al.Genomewide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21[J].Hum Genet,2016,135(8):923-938.
[27]GRAMPP S,PLATT J L,LAUER V,et al.Genetic variation at the8q24.21 renal cancer susceptibility locus affects HIF binding to a MYCenhancer[J].Nat Commun,2016,7:13183.
[28]TENESA A,DUNLOP M G.New insights into the aetiology of colorectal cancer from genome-wide association studies[J].Nat Rev Genet,2009,10(6):353-358.
[29]LUO K.Signaling cross talk between TGF-beta/Smad and other signaling pathways[J].Cold Spring Harb Perspect Biol,2017,9(1).
[30]LAMPROPOULOS P,ZIZI-SERMPETZOGLOU A,RIZOS S,et al.TGF-beta signalling in colon carcinogenesis[J].Cancer Lett,2012,314(1):1-7.
[31]PITTMAN A M,NARANJO S,JALAVA S E,et al.Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H[J].PLoS Genet,2010,6(9):e1001126.
[32]CLOSA A,CORDERO D,SANZ-PAMPLONA R,et al.Identification of candidate susceptibility genes for colorectal cancer through e QTLanalysis[J].Carcinogenesis,2014,35(9):2039-2046.
[33]AUMAILLEY M.The laminin family[J].Cell Adh Migr,2013,7(1):48-55.
[34]BARTOLINI A,CARDACI S,LAMBA S,et al.BCAM and LAMA5Mediate the Recognition between Tumor Cells and the Endothelium in the Metastatic Spreading of KRAS-Mutant Colorectal Cancer[J].Clin Cancer Res,2016,22(19):4923-4933.
[35]CODD V,NELSON C P,ALBRECHT E,et al.Identification of seven loci affecting mean telomere length and their association with disease[J].Nat Genet,2013,45(4):422-427.
[36]COSTANTINO L,SOTIRIOU S K,RANTALA J K,et al.Breakinduced replication repair of damaged forks induces genomic duplications in human cells[J].Science,2014,343(6166):88-91.
[37]BASS A J,LAWRENCE M S,BRACE L E,et al.Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2fusion[J].Nat Genet,2011,43(10):964-968.
[38]POWELL A E,WANG Y,LI Y,et al.The pan-ErbB negative regulator Lrig1 is an intestinal stem cell marker that functions as a tumor suppressor[J].Cell,2012,149(1):146-158.
[39]LIRK P,HOFFMANN G,RIEDER J.Inducible nitric oxide synthasetime for reappraisal[J].Curr Drug Targets Inflamm Allergy,2002,1(1):89-108.
[40]CAMPBELL A D,LAWN S,MCGARRY L C,et al.P-Rex1 cooperates with PDGFRbeta todrive cellular migration in 3Dmicroenvironments[J].PLo S One,2013,8(1):e53982.
[41]TOMLINSON I P,CARVAJAL-CARMONA L G,DOBBINS S E,et al.Multiple common susceptibility variants near BMP pathway loci GREM1,BMP4,and BMP2 explain part of the missing heritability of colorectal cancer[J].PLo S Genet,2011,7(6):e1002105.
[42]INTERNATIONAL HAPMAP C,FRAZER K A,BALLINGER D G,et al.A second generation human haplotype map of over 3.1 million SNPs[J].Nature,2007,449(7164):851-861.
[43]THEAN L F,LOW Y S,LO M,et al.Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk[J].J Med Genet,2018,55(3):181-188.
[44]权晟,张学军.全基因组关联研究的深度分析策略[J].遗传,2011,33(2):100-108.
[45]CIRULLI E T,GOLDSTEIN D B.Uncovering the roles of rare variants in common disease through whole-genome sequencing[J].Nat Rev Genet,2010,11(6):415-425.
[46]POMERANTZ M M,AHMADIYEH N,JIA L,et al.The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer[J].Nat Genet,2009,41(8):882-884.
[47]NEJENTSEVS,WALKER N,RICHESD,et al.Rare variants of IFIH1,a gene implicated in antiviral responses,protect against type 1 diabetes[J].Science,2009,324(5925):387-389.
[48]SHIEH Y,HU D,MA L,et al.Breast cancer risk prediction using a clinical risk model and polygenic risk score[J].Breast Cancer Res Treat,2016,159(3):513-525.
[49]HOSONO S,ITO H,OZE I,et al.A risk prediction model for colorectal cancer using genome-wide association study-identified polymorphisms and established risk factors among Japanese:results from two independent case-control studies[J].Eur J Cancer Prev,2016,25(6):500-507.
[50]SONG N,KIM K,SHIN A,et al.Colorectal cancer susceptibility loci and influence on survival[J].Genes Chromosomes Cancer,2018,57(12):630-637.
[51]PANDER J,VAN HUIS-TANJA L,BOHRINGER S,et al.Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine,Oxaliplatin,Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer[J].PLoS One,2015,10(7):e0131091.