Epidermal growth factor receptor (EGFR) pathway genes and interstitial lung disease: an association study.
Epidermal growth factor receptor (EGFR) pathway genes and interstitial lung disease: an association study.
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DOI：
10.1038/srep04893
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发表时间：
2014-05-13
影响因子：
4.6
通讯作者：
Liu W
中科院分区：
文献类型：
--
作者：
Li C;Wei R;Jones-Hall YL;Vittal R;Zhang M;Liu W
特发性间质性肺疾病（ILD）的病因和发病机制仍不完全清楚。先前的研究已经证明了ILD的遗传易感性。众所周知，EGFR抑制剂可诱导人肺癌患者发生ILD，且存在种族差异，这促使我们假设EGFR通路基因的遗传变异赋予ILD的易感性。本研究旨在探讨EGFR及其配体基因（EGF和TGFA）的功能多态性是否与ILD相关。在229例散发性特发性ILD患者和693例正常健康个体中，对3种EGFR [− 216 G/T（rs712830）、− 191 A/C（rs712829）、497 R> K（A/G）（rs 2227983）]、1种EGF [61 A/G，（rs 4444903）]和1种TGFA（rs3821262 C/T）多态性进行了基因分型，这些多态性先前被证明可改变基因功能。对这些多态性与ILD之间进行等位基因和基因型关联检验。EGF基因61 A/G多态性与ILD的发病风险显著相关（OR = 1.33，95%CI = 1.07-1.66，P = 0.0099）。其他多态性均与ILD风险无关。提示EGF基因61 A/G多态性可能与散发性ILD相关。虽然不能排除假阳性结果，但有必要进行独立研究以进一步验证这一结果。
The etiology and pathogenesis of idiopathic interstitial lung disease (ILD) remain incompletely understood. Genetic susceptibility to ILD has been demonstrated in previous studies. It is well known that EGFR inhibitors can induce ILD in human lung cancer patient with ethnic differences, which prompted us to hypothesize that genetic variation in EGFR pathway genes confer susceptibility to ILD. We aimed in this study to investigate whether functional polymorphisms of EGFR and its ligands genes (EGF and TGFA) were associated with ILD. Three EGFR [−216G/T (rs712830), −191A/C (rs712829), 497R > K(A/G) (rs2227983)], one EGF [61A/G, (rs4444903)] and one TGFA (rs3821262C/T) polymorphisms previously demonstrated to alter gene functions were genotyped in 229 sporadic idiopathic ILD patients and 693 normal healthy individuals. Allelic and genotypic association tests between these polymorphisms and ILD were performed. The EGF 61A/G polymorphism was significantly associated with elevated risk of ILD, with the frequency of G allele significantly increased in the ILD patient population (OR = 1.33, 95%CI = 1.07–1.66, P = 0.0099). None of the other polymorphisms were associated with risk of ILD. Our study suggested that the EGF 61A/G polymorphism may be associated with sporadic ILD. While a false positive finding cannot be excluded, independent studies are warranted to further validate this result.
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影响因子：
30.8
作者：
Fingerlin, Tasha E.;Murphy, Elissa;Zhang, Weiming;Peljto, Anna L.;Brown, Kevin K.;Steele, Mark P.;Loyd, James E.;Cosgrove, Gregory P.;Lynch, David;Groshong, Steve;Collard, Harold R.;Wolters, Paul J.;Bradford, Williamson Z.;Kossen, Karl;Seiwert, Scott D.;du Bois, Roland M.;Garcia, Christine Kim;Devine, Megan S.;Gudmundsson, Gunnar;Isaksson, Helgi J.;Kaminski, Naftali;Zhang, Yingze;Gibson, Kevin F.;Lancaster, Lisa H.;Cogan, Joy D.;Mason, Wendi R.;Maher, Toby M.;Molyneaux, Philip L.;Wells, Athol U.;Moffatt, Miriam F.;Selman, Moises;Pardo, Annie;Kim, Dong Soon;Crapo, James D.;Make, Barry J.;Regan, Elizabeth A.;Walek, Dinesha S.;Daniel, Jerry J.;Kamatani, Yoichiro;Zelenika, Diana;Smith, Keith;McKean, David;Pedersen, Brent S.;Talbert, Janet;Kidd, Raven N.;Markin, Cheryl R.;Beckman, Kenneth B.;Lathrop, Mark;Schwarz, Marvin I.;Schwartz, David A.
通讯作者：
Schwartz, David A.
DOI：
10.1165/ajrcmb.20.5.3526
发表时间：
1999-05-01
影响因子：
6.4
作者：
Madtes, DK;Elston, AL;Clark, JG
通讯作者：
Clark, JG
DOI：
10.1056/nejmoa1216076
发表时间：
2013-06-06
期刊：
The New England journal of medicine
影响因子：
--
作者：
Hunninghake GM;Hatabu H;Okajima Y;Gao W;Dupuis J;Latourelle JC;Nishino M;Araki T;Zazueta OE;Kurugol S;Ross JC;San José Estépar R;Murphy E;Steele MP;Loyd JE;Schwarz MI;Fingerlin TE;Rosas IO;Washko GR;O'Connor GT;Schwartz DA
通讯作者：
Schwartz DA
DOI：
10.1164/rccm.200710-1501oc
发表时间：
2008-06-15
影响因子：
24.7
作者：
Kudoh, Shoji;Kato, Harubumi;Nyberg, Fredrik
通讯作者：
Nyberg, Fredrik
影响因子：
11.5
作者：
Liu, Wanqing;Wu, Xiaolin;Ratain, Mark J.
通讯作者：
Ratain, Mark J.