近日,,刊登在國際雜志Nature Communications上的一篇研究論文中,研究者報告了與霍奇金淋巴瘤的易感性相關(guān)的新遺傳變異體,。
這些發(fā)現(xiàn)為霍奇金淋巴瘤的遺傳成分提供了進(jìn)一步支持,,也讓我們對這種疾病的潛在病因有了新認(rèn)識。
罹患霍奇金淋巴瘤有一個已知的家族性風(fēng)險,,這種風(fēng)險背后的其中一些遺傳因素已被發(fā)現(xiàn),。
現(xiàn)在,Richard Houlston及同事將來自不同研究工作的以前發(fā)表的數(shù)據(jù)相結(jié)合,,生成了一個由1465個霍奇金淋巴瘤病例和6417個對照組組成的數(shù)據(jù)集,。在此基礎(chǔ)上,他們識別出兩個新的遺傳變異體3p24.1和6q23.3,,二者均與罹患霍奇金淋巴瘤的風(fēng)險相關(guān),。(生物谷Bioon.com)
生物谷推薦英文摘要:
NATURE COMMUNICATIONS doi:10.1038/ncomms3549
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin’s lymphoma
Matthew Frampton, Miguel Inacio da Silva Filho,, Peter Broderick,, Hauke Thomsen, Asta Frsti,, Jayaram Vijayakrishnan,, Rosie Cooke, Victor Enciso-Mora,, Per Hoffmann,, Markus M. Nthen, Amy Lloyd,, Amy Holroyd,, Lewin Eisele, Karl-Heinz Jckel,, Sabine Ponader,, Elke Pogge von Strandmann, Tracy Lightfoot,, Eve Roman,, Annette Lake, Dorothy Montgomery et al.
In addition to HLA,, recent genome-wide association studies (GWASs) of Hodgkin’s lymphoma (HL) have identified susceptibility loci for HL at 2p16.1,, 8q24.21 and 10p14. In this study, we perform a GWAS meta-analysis with published GWAS (totalling 1,,465 cases and 6,,417 controls of European background), and follow-up the most significant association signals in 2,024 cases and 1,,853 controls. A combined analysis identifies new HL susceptibility loci mapping to 3p24.1 (rs3806624,; P=1.14 × 10?12,, odds ratio (OR)=1.26) and 6q23.3 (rs7745098,; P=3.42 × 10?9,, OR=1.21). rs3806624 localizes 5′ to the EOMES (eomesodermin) gene within a p53 response element affecting p53 binding. rs7745098 maps intergenic to HBS1L and MYB,, a region previously associated with haematopoiesis. These findings provide further insight into the genetic and biological basis of inherited susceptibility to HL.