Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.
复制标题
DOI：
10.1136/jmedgenet-2019-106374
复制
发表时间：
2020-10
影响因子：
4
通讯作者：
Castellvi-Bel S
中科院分区：
文献类型：
--
作者：
Arnau-Collell C;Soares de Lima Y;Díaz-Gay M;Muñoz J;Carballal S;Bonjoch L;Moreira L;Lozano JJ;Ocaña T;Cuatrecasas M;Díaz de Bustamante A;Castells A;Capellà G;Bujanda L;Cubiella J;Rodríguez-Alcalde D;Balaguer F;Ruiz-Ponte C;Valle L;Moreno V;Castellvi-Bel S
锯齿状息肉综合征(SPS)是一种临床实体，其特征是整个结肠内有大的和/或多个锯齿状息肉，并增加患结直肠癌(CRC)的风险。SPS遗传易感性的基础在很大程度上是未知的。常见的低外显性基因变异一直与结直肠癌易感性有关，然而，它们在SPS遗传易感性中的作用尚未被探索。这项研究的目的是评估常见的、低外显性的结直肠癌风险基因变异是否也与SPS的遗传易感性有关。对219例SPS患者和548例无症状对照进行了病例对照研究，分析了65个CRC易感变异。建立了SPS易感性的风险预测模型。有7个遗传变异(rs4779584-GREM1、rs16892766-EIF3H、rs3217810-CCND2、rs992157-PNKD1/TMBIM1、rs704017-ZMIZ1、rs11196172-TCF7L2、rs6061231-LAMA5)与SPS显著相关。GREM1等位基因在SPS组明显高于对照组(OR=1.573，1.21~2.04，p值=0.0006)。当比较变异的最高十分之一的受试者(≥65)和第一个十分之一的受试者(≤50)时，SPS的风险增加了四倍。结直肠癌风险的遗传变异也与SPS的易感性有关，最相关的是rs4779584-GREM1、rs16892766-EIF3H和rs3217810-CCND2。
Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic predisposition is largely unknown. Common, low-penetrance genetic variants have been consistently associated with CRC susceptibility, however, their role in SPS genetic predisposition has not been yet explored. The aim of this study was to evaluate if common, low-penetrance genetic variants for CRC risk are also implicated in SPS genetic susceptibility. A case-control study was performed in 219 SPS patients and 548 asymptomatic controls analysing 65 CRC susceptibility variants. A risk prediction model for SPS predisposition was developed. Statistically significant associations with SPS were found for seven genetic variants (rs4779584-GREM1, rs16892766-EIF3H, rs3217810-CCND2, rs992157-PNKD1/TMBIM1, rs704017-ZMIZ1, rs11196172-TCF7L2, rs6061231-LAMA5). The GREM1 risk allele was remarkably over-represented in SPS cases compared with controls (OR=1.573, 1.21–2.04, p value=0.0006). A fourfold increase in SPS risk was observed when comparing subjects within the highest decile of variants (≥65) with those in the first decile (≤50). Genetic variants for CRC risk are also involved in SPS susceptibility, being the most relevant ones rs4779584-GREM1, rs16892766-EIF3H and rs3217810-CCND2.
登录
查看更多内容
影响因子：
4.5
作者：
Pittman AM;Naranjo S;Jalava SE;Twiss P;Ma Y;Olver B;Lloyd A;Vijayakrishnan J;Qureshi M;Broderick P;van Wezel T;Morreau H;Tuupanen S;Aaltonen LA;Alonso ME;Manzanares M;Gavilán A;Visakorpi T;Gómez-Skarmeta JL;Houlston RS
通讯作者：
Houlston RS
影响因子：
30.8
作者：
Jaeger E;Leedham S;Lewis A;Segditsas S;Becker M;Cuadrado PR;Davis H;Kaur K;Heinimann K;Howarth K;HMPS Collaboration;East J;Taylor J;Thomas H;Tomlinson I
通讯作者：
Tomlinson I
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
东亚的大规模遗传研究确定了与结直肠癌风险相关的六个新基因座。
影响因子：
30.8
作者：
Zhang, Ben;Jia, Wei-Hua;Matsuda, Koichi;Kweon, Sun-Seog;Matsuo, Keitaro;Xiang, Yong-Bing;Shin, Aesun;Jee, Sun Ha;Kim, Dong-Hyun;Cai, Qiuyin;Long, Jirong;Shi, Jiajun;Wen, Wanqing;Yang, Gong;Zhang, Yanfeng;Li, Chun;Li, Bingshan;Guo, Yan;Ren, Zefang;Ji, Bu-Tian;Pan, Zhi-Zhong;Takahashi, Atsushi;Shin, Min-Ho;Matsuda, Fumihiko;Gao, Yu-Tang;Oh, Jae Hwan;Kim, Soriul;Ahn, Yoon-Ok;Chan, Andrew T.;Chang-Claude, Jenny;Slattery, Martha L.;Gruber, Stephen B.;Schumacher, Fredrick R.;Stenzel, Stephanie L.;Casey, Graham;Kim, Hyeong-Rok;Jeong, Jin-Young;Park, Ji Won;Li, Hong-Lan;Hosono, Satoyo;Cho, Sang-Hee;Kubo, Michiaki;Shu, Xiao-Ou;Zeng, Yi-Xin;Zheng, Wei
通讯作者：
Zheng, Wei
影响因子：
4.5
作者：
Tomlinson IP;Carvajal-Carmona LG;Dobbins SE;Tenesa A;Jones AM;Howarth K;Palles C;Broderick P;Jaeger EE;Farrington S;Lewis A;Prendergast JG;Pittman AM;Theodoratou E;Olver B;Walker M;Penegar S;Barclay E;Whiffin N;Martin L;Ballereau S;Lloyd A;Gorman M;Lubbe S;COGENT Consortium;CORGI Collaborators;EPICOLON Consortium;Howie B;Marchini J;Ruiz-Ponte C;Fernandez-Rozadilla C;Castells A;Carracedo A;Castellvi-Bel S;Duggan D;Conti D;Cazier JB;Campbell H;Sieber O;Lipton L;Gibbs P;Martin NG;Montgomery GW;Young J;Baird PN;Gallinger S;Newcomb P;Hopper J;Jenkins MA;Aaltonen LA;Kerr DJ;Cheadle J;Pharoah P;Casey G;Houlston RS;Dunlop MG
通讯作者：
Dunlop MG