一个错义单核苷酸多态性的基因编码一种蛋白质酪氨酸磷酸酶(PTPN22)与类风湿性关节炎有关。
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Begovich AB、卡尔顿VE Honigberg洛杉矶,Schrodi SJ, Chokkalingam美联社,亚历山大•HC Ardlie公斤,黄问,史密斯,Spoerke JM,康涅狄格州MT, Chang M, Chang SY, saki RK, Catanese JJ,梁DU,加西亚VE、麦卡利斯特磅,杰弗瑞哒,李,Batliwalla F,雷默斯E,克里斯,Seldin MF, Kastner DL,阿莫斯CI, Sninsky JJ,葛瑞格森PK
一个错义单核苷酸多态性的基因编码一种蛋白质酪氨酸磷酸酶(PTPN22)与类风湿性关节炎有关。
J哼麝猫。2004年8月,75 (2):330 - 7。Epub 2004年6月18日。
- PubMed ID
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15208781 (在PubMed]
- 文摘
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类风湿性关节炎(RA)是最常见的系统性自身免疫性疾病,影响全球约1%的成年人口,据估计60%的遗传性。确定参与RA易感基因,我们调查了假定的功能之间的联系单核苷酸多态性(SNPs)和RA白人个人使用病例对照研究设计;第二个样本检测复制。在这里,我们报告协会RA与小的错义SNP等位基因易感性PTPN22 (discovery-study等位基因P = 6.6 x 10 (4);复制研究等位基因P = 5.6 x 10(8)),合成一个hematopoietic-specific蛋白质酪氨酸磷酸酶也称为“Lyp。”We show that the risk allele, which is present in approximately 17% of white individuals from the general population and in approximately 28% of white individuals with RA, disrupts the P1 proline-rich motif that is important for interaction with Csk, potentially altering these proteins' normal function as negative regulators of T-cell activation. The minor allele of this SNP recently was implicated in type 1 diabetes, suggesting that the variant phosphatase may increase overall reactivity of the immune system and may heighten an individual carrier's risk for autoimmune disease.