Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

被引：13

作者：

Baert-Desurmont, Stephanie ^{[1
,2
,3
]}

Charbonnier, Francoise ^{[1
,2
,3
]}

Houivet, Estelle ^{[4
,5
,6
]}

Ippolito, Lorena ^{[1
,3
]}

Mauillon, Jacques ^{[2
]}

Bougeard, Marion ^{[1
]}

Abadie, Caroline ^{[1
,7
]}

Malka, David ^{[8
]}

Duffour, Jacqueline ^{[9
]}

Desseigne, Franoise ^{[10
]}

Colas, Chrystelle ^{[11
]}

Pujol, Pascal ^{[12
]}

Lejeune, Sophie ^{[13
]}

Dugast, Catherine ^{[7
]}

Buecher, Bruno ^{[14
]}

Faivre, Laurence ^{[15
,16
]}

Leroux, Dominique ^{[17
]}

Gesta, Paul ^{[18
]}

Coupier, Isabelle ^{[12
]}

Guimbaud, Rosine ^{[19
]}

Berthet, Pascaline ^{[20
]}

Manouvrier, Sylvie ^{[13
]}

Cauchin, Estelle ^{[21
]}

Prieur, Fabienne ^{[22
]}

Laurent-Puig, Pierre ^{[23
]}

Lebrun, Marine ^{[22
]}

Jonveaux, Philippe ^{[24
]}

Chiesa, Jean ^{[25
]}

Caron, Olivier ^{[8
]}

Morin-Meschin, Marie-Emmanuelle ^{[26
]}

Polycarpe-Osaer, Florence ^{[20
]}

Giraud, Sophie ^{[27
]}

Zaanan, Aziz ^{[23
]}

Bonnet, Delphine ^{[28
]}

Mansuy, Ludovic ^{[24
]}

Bonadona, Valerie ^{[10
]}

El Chehadeh, Salima ^{[15
,16
]}

Duhoux, Francois ^{[29
]}

Gauthier-Villars, Marion ^{[14
]}

Saurin, Jean-Christophe ^{[30
]}

Collonge-Rame, Marie-Agnes ^{[31
]}

Brugieres, Laurence ^{[8
]}

Wang, Qing ^{[10
]}

Bressac-de Paillerets, Brigitte ^{[8
]}

Rey, Jean-Marc ^{[12
]}

Toulas, Christine ^{[19
]}

Buisine, Marie-Pierre ^{[32
]}

Bronner, Myriam ^{[24
]}

Sokolowska, Joanna ^{[24
]}

Hardouin, Agnes ^{[20
]}

机构：

[1] Univ Rouen, Inst Res & Innovat Biomed, INSERM, U1079, Rouen, France

[2] Univ Hosp, Dept Genet, Rouen, France

[3] Cancr Nord Ouest, Lille, France

[4] Univ Hosp, Dept Biostat, Rouen, France

[5] Univ Rouen, Inst Res & Innovat Biomed, INSERM, U657, Rouen, France

[6] Univ Hosp, Ctr Invest Clin, Rouen, France

[7] Comprehens Canc Ctr Eugene Marquis, Dept Genet, Rennes, France

[8] Inst Gustave Roussy, Dept Genet, Villejuif, France

[9] Comprehens Canc Ctr Vald dAurelle, Dept Genet, Montpellier, France

[10] Comprehens Canc Ctr Leon Berard, Dept Genet, Lyon, France

[11] Hop St Antoine, AP HP, Dept Genet, Paris, France

[12] Univ Hosp, Dept Genet, Montpellier, France

[13] Univ Hosp, Dept Genet, Lille, France

[14] Inst Curie, Dept Genet, Paris, France

[15] Univ Hosp, Dept Genet, Dijon, France

[16] Comprehens Canc Ctr Georges Francois Leclerc, Dept Genet, Dijon, France

[17] Univ Hosp, Dept Genet, Grenoble, France

[18] Hosp Niort, Dept Genet, Niort, France

[19] Comprehens Canc Ctr Claudius Regaud, Dept Genet, Toulouse, France

[20] Comprehens Canc Ctr Francois Baclesse, Dept Genet, Caen, France

[21] Univ Hosp, Dept Genet, Nantes, France

[22] Univ Hosp, Dept Genet, St Etienne, France

[23] Hop Europeen Georges Pompidou, Dept Genet, Paris, France

[24] Univ Hosp, Dept Genet, Nancy, France

[25] Univ Hosp, Dept Genet, Nimes, France

[26] Univ Hosp, Dept Genet, Angers, France

[27] Univ Hosp Edouard Herriot, Dept Genet, Lyon, France

[28] Univ Hosp, Dept Genet, Toulouse, France

[29] Clin Univ St Luc, Ctr Canc, Dept Genet, B-1200 Brussels, Belgium

[30] Univ Hosp Edouard Herriot, Dept Gastroenterol, Lyon, France

[31] Univ Hosp, Dept Genet, Besancon, France

[32] Univ Hosp, Mol Genet, Lille, France

[33] Univ Hosp, Dept Clin Res, Rouen, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2016年 / 24卷 / 01期

关键词：

GENOME-WIDE ASSOCIATION; LOW-PENETRANCE SUSCEPTIBILITY; CHROMOSOME; 8Q24; LOCI; METAANALYSIS; EXPRESSION; POLYPOSIS; VARIANTS; ALLELES; 11Q23;

D O I：

10.1038/ejhg.2015.72

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

To determine if the at-risk single-nucleotide polymorphism (SNP) alleles for colorectal cancer (CRC) could contribute to clinical situations suggestive of an increased genetic risk for CRC, we performed a prospective national case-control study based on highly selected patients (CRC in two first-degree relatives, one before 61 years of age; or CRC diagnosed before 51 years of age; or multiple primary CRCs, the first before 61 years of age; exclusion of Lynch syndrome and polyposes) and controls without personal or familial history of CRC. SNPs were genotyped using SNaPshot, and statistical analyses were performed using Pearson's chi(2) test, Cochran-Armitage test of trend and logistic regression. We included 1029 patients and 350 controls. We confirmed the association of CRC risk with four SNPs, with odds ratio (OR) higher than previously reported: rs16892766 on 8q23.3 (OR: 1.88, 95% confidence interval (CI): 1.30-2.72; P=0.0007); rs4779584 on 15q13.3 (OR: 1.42, CI: 1.11-1.83; P=0.0061) and rs4939827 and rs58920878/Novel 1 on 18q21.1 (OR: 1.49, CI: 1.13-1.98; P=0.007 and OR: 1.49, CI: 1.14-1.95; P=0.0035). We found a significant (P<0.0001) cumulative effect of the at-risk alleles or genotypes with OR at 1.62 (CI: 1.10-2.37), 2.09 (CI: 1.43-3.07), 2.87 (CI: 1.76-4.70) and 3.88 (CI: 1.72-8.76) for 1, 2, 3 and at least 4 at-risk alleles, respectively, and OR at 1.71 (CI: 1.18-2.46), 2.29 (CI: 1.55-3.38) and 6.21 (CI: 2.67-14.42) for 1, 2 and 3 at-risk genotypes, respectively. Combination of SNPs may therefore explain a fraction of clinical situations suggestive of an increased risk for CRC.

引用

页码：99 / 105

页数：7

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