狼疮相关单核苷酸多态性与弥漫性大B细胞淋巴瘤风险
Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma.
作者信息
Bernatsky Sasha, Velásquez García Héctor A, Spinelli John J, Gaffney Patrick, Smedby Karin E, Ramsey-Goldman Rosalind, Wang Sophia S, Adami Hans-Olov, Albanes Demetrius, Angelucci Emanuele, Ansell Stephen M, Asmann Yan W, Becker Nikolaus, Benavente Yolanda, Berndt Sonja I, Bertrand Kimberly A, Birmann Brenda M, Boeing Heiner, Boffetta Paolo, Bracci Paige M, Brennan Paul, Brooks-Wilson Angela R, Cerhan James R, Chanock Stephen J, Clavel Jacqueline, Conde Lucia, Cotenbader Karen H, Cox David G, Cozen Wendy, Crouch Simon, De Roos Anneclaire J, de Sanjose Silvia, Di Lollo Simonetta, Diver W Ryan, Dogan Ahmet, Foretova Lenka, Ghesquières Hervé, Giles Graham G, Glimelius Bengt, Habermann Thomas M, Haioun Corinne, Hartge Patricia, Hjalgrim Henrik, Holford Theodore R, Holly Elizabeth A, Jackson Rebecca D, Kaaks Rudolph, Kane Eleanor, Kelly Rachel S, Klein Robert J, Kraft Peter, Kricker Anne, Lan Qing, Lawrence Charles, Liebow Mark, Lightfoot Tracy, Link Brian K, Maynadie Marc, McKay James, Melbye Mads, Molina Thierry J, Monnereau Alain, Morton Lindsay M, Nieters Alexandra, North Kari E, Novak Anne J, Offit Kenneth, Purdue Mark P, Rais Marco, Riby Jacques, Roman Eve, Rothman Nathaniel, Salles Gilles, Severi Gianluca, Severson Richard K, Skibola Christine F, Slager Susan L, Smith Alex, Smith Martyn T, Southey Melissa C, Staines Anthony, Teras Lauren R, Thompson Carrie A, Tilly Hervé, Tinker Lesley F, Tjonneland Anne, Turner Jenny, Vajdic Claire M, Vermeulen Roel C H, Vijai Joseph, Vineis Paolo, Virtamo Jarmo, Wang Zhaoming, Weinstein Stephanie, Witzig Thomas E, Zelenetz Andrew, Zeleniuch-Jacquotte Anne, Zhang Yawei, Zheng Tongzhang, Zucca Mariagrazia, Clarke Ann E
机构信息
Division of Clinical Epidemiology, Research Institute of the McGill University Health Centre, Montreal, Canada.
BC Cancer Research Centre and School of Population and Public Health, University of British Columbia, Vancouver, Canada.
出版信息
Lupus Sci Med. 2017 Nov 12;4(1):e000187. doi: 10.1136/lupus-2016-000187. eCollection 2017.
OBJECTIVE
Determinants of the increased risk of diffuse large B-cell lymphoma (DLBCL) in SLE are unclear. Using data from a recent lymphoma genome-wide association study (GWAS), we assessed whether certain lupus-related single nucleotide polymorphisms (SNPs) were also associated with DLBCL.
METHODS
GWAS data on European Caucasians from the International Lymphoma Epidemiology Consortium (InterLymph) provided a total of 3857 DLBCL cases and 7666 general-population controls. Data were pooled in a random-effects meta-analysis.
RESULTS
Among the 28 SLE-related SNPs investigated, the two most convincingly associated with risk of DLBCL included the CD40 SLE risk allele rs4810485 on chromosome 20q13 (OR per risk allele=1.09, 95% CI 1.02 to 1.16, p=0.0134), and the HLA SLE risk allele rs1270942 on chromosome 6p21.33 (OR per risk allele=1.17, 95% CI 1.01 to 1.36, p=0.0362). Of additional possible interest were rs2205960 and rs12537284. The rs2205960 SNP, related to a cytokine of the tumour necrosis factor superfamily TNFSF4, was associated with an OR per risk allele of 1.07, 95% CI 1.00 to 1.16, p=0.0549. The OR for the rs12537284 (chromosome 7q32, IRF5 gene) risk allele was 1.08, 95% CI 0.99 to 1.18, p=0.0765.
CONCLUSIONS
These data suggest several plausible genetic links between DLBCL and SLE.
目的
系统性红斑狼疮（SLE）患者中弥漫性大B细胞淋巴瘤（DLBCL）风险增加的决定因素尚不清楚。利用近期淋巴瘤全基因组关联研究（GWAS）的数据，我们评估了某些与狼疮相关的单核苷酸多态性（SNP）是否也与DLBCL相关。
方法
国际淋巴瘤流行病学联盟（InterLymph）提供的关于欧洲白种人的GWAS数据共有3857例DLBCL病例和7666例普通人群对照。数据通过随机效应荟萃分析进行汇总。
结果
在研究的28个与SLE相关的SNP中，与DLBCL风险最具说服力相关的两个SNP包括位于20q13染色体上的CD40 SLE风险等位基因rs4810485（每个风险等位基因的OR = 1.09，95% CI 1.02至1.16，p = 0.0134），以及位于6p21.33染色体上的HLA SLE风险等位基因rs1270942（每个风险等位基因的OR = 1.17，95% CI 1.01至1.36，p = 0.0362）。另外可能有意义的是rs2205960和rs12537284。与肿瘤坏死因子超家族TNFSF4的一种细胞因子相关的rs2205960 SNP，每个风险等位基因的OR为1.07，95% CI 1.00至1.16，p = 0.0549。rs12537284（7q32染色体，IRF5基因）风险等位基因的OR为1.08，95% CI 0.99至1.18，p = 0.0765。
结论
这些数据表明DLBCL与SLE之间存在几种可能的遗传联系。
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