Discovery of common variants associated with low TSH levels and thyroid cancer risk.
Discovery of common variants associated with low TSH levels and thyroid cancer risk.
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DOI：
10.1038/ng.1046
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发表时间：
2012-01-22
期刊：
影响因子：
30.8
通讯作者：
Stefansson, Kari
中科院分区：
文献类型：
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作者：
Gudmundsson, Julius;Sulem, Patrick;Gudbjartsson, Daniel F.;Jonasson, Jon G.;Masson, Gisli;He, Huiling;Jonasdottir, Aslaug;Sigurdsson, Asgeir;Stacey, Simon N.;Johannsdottir, Hrefna;Helgadottir, Hafdis Th;Li, Wei;Nagy, Rebecca;Ringel, Matthew D.;Kloos, Richard T.;de Visser, Marieke C. H.;Plantinga, Theo S.;den Heijer, Martin;Aguillo, Esperanza;Panadero, Angeles;Prats, Enrique;Garcia-Castano, Almudena;De Juan, Ana;Rivera, Fernando;Walters, G. Bragi;Bjarnason, Hjordis;Tryggvadottir, Laufey;Eyjolfsson, Gudmundur I.;Bjornsdottir, Unnur S.;Holm, Hilma;Olafsson, Isleifur;Kristjansson, Kristleifur;Kristvinsson, Hoskuldur;Magnusson, Olafur T.;Thorleifsson, Gudmar;Gulcher, Jeffrey R.;Kong, Augustine;Kiemeney, Lambertus A. L. M.;Jonsson, Thorvaldur;Hjartarson, Hannes;Mayordomo, Jose I.;Netea-Maier, Romana T.;de la Chapelle, Albert;Hrafnkelsson, Jon;Thorsteinsdottir, Unnur;Rafnar, Thorunn;Stefansson, Kari
为了寻找与非甲状腺髓样癌风险相关的序列变异，我们集中分析了27,758名冰岛人促甲状腺激素（TSH）水平全基因组关联研究中P < 5 × 10−8的22个SNP。其中，rs 965513先前已被证明与甲状腺癌有关。其余21个SNPs在561名冰岛甲状腺癌患者（病例）和多达40，013名对照中进行了基因分型。在另外595例非冰岛病例和2,604例对照中，对与甲状腺癌相关的变异体进行了基因分型（P < 0.05）。在结合结果后，三个变异被证明与甲状腺癌相关：2 q35上的rs 966423（OR = 1.34; Pcombined = 1.3 × 10−9），8 p12上的rs 2439302（OR = 1.36; Pcombined = 2.0 × 10−9）和14q13.3上的rs 116909374（OR = 2.09; Pcombined = 4.6 × 10−11），该区域先前被报道包含一个与甲状腺癌风险无关的变异。在8 p12上的rs 2439302与血液中编码信号蛋白neuregulin 1的NRG 1的表达之间观察到强烈的关联（P = 9.1 × 10−91）。
To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10−8 in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic individuals with thyroid cancer (cases) and up to 40,013 controls. Variants suggestively associated with thyroid cancer (P < 0.05) were genotyped in an additional 595 non-Icelandic cases and 2,604 controls. After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; Pcombined = 1.3 × 10−9), rs2439302 on 8p12 (OR = 1.36; Pcombined = 2.0 × 10−9) and rs116909374 on 14q13.3 (OR = 2.09; Pcombined = 4.6 × 10−11), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. A strong association (P = 9.1 × 10−91) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood.
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影响因子：
4.5
作者：
Landa I;Ruiz-Llorente S;Montero-Conde C;Inglada-Pérez L;Schiavi F;Leskelä S;Pita G;Milne R;Maravall J;Ramos I;Andía V;Rodríguez-Poyo P;Jara-Albarrán A;Meoro A;del Peso C;Arribas L;Iglesias P;Caballero J;Serrano J;Picó A;Pomares F;Giménez G;López-Mondéjar P;Castello R;Merante-Boschin I;Pelizzo MR;Mauricio D;Opocher G;Rodríguez-Antona C;González-Neira A;Matías-Guiu X;Santisteban P;Robledo M
通讯作者：
Robledo M
影响因子：
30.8
作者：
通讯作者：
--
DOI：
10.1073/pnas.0809630105
发表时间：
2009-02-24
影响因子：
11.1
作者：
Garcia-Barcelo, Maria-Merce;Tang, Clara Sze-man;Tam, Paul Kwong-hang
通讯作者：
Tam, Paul Kwong-hang
影响因子：
2.5
作者：
Delellis, Ronald A.
通讯作者：
Delellis, Ronald A.
影响因子：
30.8
作者：
Sulem, Patrick;Gudbjartsson, Daniel F.;Stefansson, Kari
通讯作者：
Stefansson, Kari