A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
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作者：
我们在778例乳糜泻病例和1422例对照中检测了310,605个单核苷酸多态性的相关性。在HLA之外，最显著的发现（rs 13119723，P=2.0 × 10−7，经验全基因组显著性P=0.045）是在KIAA 1109/Tenr/IL 2/IL 21连锁不平衡区组中。相关性在另外两个集合中被独立地证实（在rs6822844，IL 21的24 kB 5'处最强，荟萃分析P=1.3 × 10−14，OR 0.63），表明该区域的遗传变异易患乳糜泻。
We tested 310,605 single-nucleotide polymorphisms for association in 778 celiac disease cases and 1422 controls. Outside the HLA, the most significant finding (rs13119723, P=2.0 × 10−7, empirical genome-wide significance P=0.045) was in the KIAA1109/Tenr/IL2/IL21 linkage disequilibrium block. Association was independently confirmed in two further collections (strongest at rs6822844, 24kB 5' of IL21, meta-analysis P=1.3 × 10−14, OR 0.63), suggesting genetic variation in this region predisposes to celiac disease.
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影响因子：
5.8
作者：
He, Quan-Yuan;Liu, Xiang-Hua;Liang, Song-Ping
通讯作者：
Liang, Song-Ping
影响因子：
24.5
作者：
Nisticò, L;Fagnani, C;Stazi, MA
通讯作者：
Stazi, MA
影响因子：
56.9
作者：
Gabriel, SB;Schaffner, SF;Altshuler, D
通讯作者：
Altshuler, D
影响因子：
5.2
作者：
Hunt, KA;McGovern, DPB;van Heel, DA
通讯作者：
van Heel, DA
人类基因组中拷贝数的全球变化。
影响因子：
64.8
作者：
Redon, Richard;Ishikawa, Shumpei;Fitch, Karen R.;Feuk, Lars;Perry, George H.;Andrews, T. Daniel;Fiegler, Heike;Shapero, Michael H.;Carson, Andrew R.;Chen, Wenwei;Cho, Eun Kyung;Dallaire, Stephanie;Freeman, Jennifer L.;Gonzalez, Juan R.;Gratacos, Monica;Huang, Jing;Kalaitzopoulos, Dimitrios;Komura, Daisuke;MacDonald, Jeffrey R.;Marshall, Christian R.;Mei, Rui;Montgomery, Lyndal;Nishimura, Kunihiro;Okamura, Kohji;Shen, Fan;Somerville, Martin J.;Tchinda, Joelle;Valsesia, Armand;Woodwark, Cara;Yang, Fengtang;Zhang, Junjun;Zerjal, Tatiana;Zhang, Jane;Armengol, Lluis;Conrad, Donald F.;Estivill, Xavier;Tyler-Smith, Chris;Carter, Nigel P.;Aburatani, Hiroyuki;Lee, Charles;Jones, Keith W.;Scherer, Stephen W.;Hurles, Matthew E.
通讯作者：
Hurles, Matthew E.