Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24.
Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24.
复制标题
DOI：
10.1136/jmedgenet-2011-100586
复制
发表时间：
2012-03
影响因子：
4
通讯作者：
Carvajal-Carmona LG
中科院分区：
文献类型：
--
作者：
Jones AM;Howarth KM;Martin L;Gorman M;Mihai R;Moss L;Auton A;Lemon C;Mehanna H;Mohan H;Clarke SE;Wadsley J;Macias E;Coatesworth A;Beasley M;Roques T;Martin C;Ryan P;Gerrard G;Power D;Bremmer C;TCUKIN Consortium;Tomlinson I;Carvajal-Carmona LG
已报道了5个与甲状腺癌(TC)风险相关的单核苷酸多态(SNP)：rs2910164(5q24)；rs6983267(8q24)；rs965513和rs1867277(9q22)；以及rs944289(14q13)。这些关联中的大多数还没有在独立的人群中复制，也没有研究SNPs对风险的综合影响。这项研究通过TCUKIN研究招募了781名患者，对5个TC SNP进行了基因分型。6122名对照的基因数据来自Corgi和Wellcome Trust病例对照联盟的研究。TC与rs965513A(p=6.35×10−34)、rs1867277A(p=5.90×10−24)、rs944289T(p=6.95×10−7)和rs6983267G(p=0.016)有显著的相关性。Rs6983267在隐性模式下关联最强(pgg vs gt+tt=0.004)，与该SNP与其他癌症类型的关联相反。然而，在任何风险模型下都没有发现rs2910164与疾病相关的证据(p>；0.7)。在考虑了邻近的rs965513(p=2.3x10−13)的基因型后，rs1867277的关联仍然显著(p=0.008)，并且这些SNP不标记单个高危单倍型。4个已验证的TC SNP在TC的同胞相对风险中所占的比例相对较大(∼为11%)，这主要是由于rs965513的大效应(OR1.74)。
Five single nucleotide polymorphisms (SNPs) associated with thyroid cancer (TC) risk have been reported: rs2910164 (5q24); rs6983267 (8q24); rs965513 and rs1867277 (9q22); and rs944289 (14q13). Most of these associations have not been replicated in independent populations and the combined effects of the SNPs on risk have not been examined. This study genotyped the five TC SNPs in 781 patients recruited through the TCUKIN study. Genotype data from 6122 controls were obtained from the CORGI and Wellcome Trust Case-Control Consortium studies. Significant associations were detected between TC and rs965513A (p=6.35×10−34), rs1867277A (p=5.90×10−24), rs944289T (p=6.95×10−7), and rs6983267G (p=0.016). rs6983267 was most strongly associated under a recessive model (PGG vs GT + TT=0.004), in contrast to the association of this SNP with other cancer types. However, no evidence was found of an association between rs2910164 and disease under any risk model (p>0.7). The rs1867277 association remained significant (p=0.008) after accounting for genotypes at the nearby rs965513 (p=2.3×10−13) and these SNPs did not tag a single high risk haplotype. The four validated TC SNPs accounted for a relatively large proportion (∼11%) of the sibling relative risk of TC, principally owing to the large effect size of rs965513 (OR 1.74).
登录
查看更多内容
影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
DOI：
10.1073/pnas.0812591106
发表时间：
2009-02-03
影响因子：
11.1
作者：
Jazdzewski, Krystian;Liyanarachchi, Sandya;De la Chapelle, Albert
通讯作者：
De la Chapelle, Albert
影响因子：
30.8
作者：
Gudmundsson, Julius;Sulem, Patrick;Gudbjartsson, Daniel F.;Jonasson, Jon G.;Sigurdsson, Asgeir;Bergthorsson, Jon T.;He, Huiling;Blondal, Thorarinn;Geller, Frank;Jakobsdottir, Margret;Magnusdottir, Droplaug N.;Matthiasdottir, Sigurborg;Stacey, Simon N.;Skarphedinsson, Oskar B.;Helgadottir, Hafdis;Li, Wei;Nagy, Rebecca;Aguillo, Esperanza;Faure, Eduardo;Prats, Enrique;Saez, Berta;Martinez, Mariano;Eyjolfsson, Gudmundur I.;Bjornsdottir, Unnur S.;Holm, Hilma;Kristjansson, Kristleifur;Frigge, Michael L.;Kristvinsson, Hoskuldur;Gulcher, Jeffrey R.;Jonsson, Thorvaldur;Rafnar, Thorunn;Hjartarsson, Hannes;Mayordomo, Jose I.;de la Chapelle, Albert;Hrafnkelsson, Jon;Thorsteinsdottir, Unnur;Kong, Augustine;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
11.2
作者：
Wokolorczyk, Dominika;Gliniewicz, Bartlomiej;Cybulski, Cezary
通讯作者：
Cybulski, Cezary
DOI：
10.1073/pnas.0509603102
发表时间：
2005-12-27
影响因子：
11.1
作者：
He, HL;Jazdzewski, K;de la Chapelle, A
通讯作者：
de la Chapelle, A