Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.
Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.
复制标题
PTPN22区域中的多态性与早期发作的牛皮癣有关。
DOI：
10.1111/j.1365-2133.2008.08482.x
复制
发表时间：
2008-05
影响因子：
10.3
通讯作者：
Worthington, J.
中科院分区：
文献类型：
--
作者：
Smith, Rh. Ll.;Warren, R. B.;Eyre, S.;Ke, X.;Young, H. S.;Allen, M.;Strachan, D.;McArdle, W.;Gittins, M. P.;Barker, J. N. W. N.;Griffths, C. E. M.;Worthington, J.
牛皮癣是一种慢性炎症性皮肤病，影响全球约 2% 的人口。尽管人们对银屑病的病因知之甚少，但早发型患者（I 型，发病年龄≤ 40 岁）通常具有很强的遗传因素。本研究的目的是探讨蛋白酪氨酸磷酸酶非受体 22 型 (PTPN22) 基因区域在 I 型银屑病易感性中的作用。在 647 名 I 型银屑病患者和 566 名正常对照中，对 PTPN22 区域的 13 个单核苷酸多态性 (SNP) 进行了基因分型。 rs2476601 (R620W) SNP 与其他炎症性自身免疫性疾病广泛相关，但没有证据表明与 I 型银屑病易感性相关。两个 SNP（rs1217414 和 rs3789604）显示与 I 型银屑病显着相关，随后在另外 253 名无关患者和 2024 名正常对照中进行了基因分型。在组合数据集中，rs1217414 和 rs3789604 也与 I 型银屑病显着相关（分别为 P = 0·003 和 P = 0·0002）；此外，两种风险等位基因的携带也显着相关（P = 0·002）。这项研究证明了 PTPN22 区域的两个 SNP（rs1217414 和 rs3789604）与 I 型银屑病相关的证据，为该基因在 I 型银屑病中的作用提供了证据，而先前与许多炎症性疾病相关的 R620W 变异并未赋予该基因所具有的作用。
Psoriasis, a chronic inflammatory skin disease, affects approximately 2% of the population worldwide. Although the aetiology of psoriasis is poorly understood, patients with disease of early onset (Type I, age of onset ≤ 40 years) usually have a strong genetic component to the disease. The purpose of this study was to investigate the role of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene region in susceptibility to Type I psoriasis. Thirteen single nucleotide polymorphisms (SNPs) mapping to the PTPN22 region were genotyped in 647 patients with Type I psoriasis and 566 normal controls. The rs2476601 (R620W) SNP, widely associated with other inflammatory autoimmune diseases, showed no evidence of association with susceptibility to Type I psoriasis. Two SNPs (rs1217414 and rs3789604) demonstrated significant association with Type I psoriasis and were subsequently genotyped in a further 253 unrelated patients and 2024 normal controls. rs1217414 and rs3789604 were also significantly associated with Type I psoriasis in the combined datasets (P = 0·003 and P = 0·0002, respectively); furthermore carriage of both risk alleles was also significantly associated (P = 0·002). This study demonstrates evidence of association of two SNPs (rs1217414 and rs3789604) in the PTPN22 region with Type I psoriasis, providing evidence for a role of this gene in Type I psoriasis that is not conferred by the R620W variant previously associated with a number of inflammatory diseases.
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影响因子：
30.8
作者：
Vang, T;Congia, M;Bottini, N
通讯作者：
Bottini, N
影响因子：
3.5
作者：
Nair, RP;Henseler, T;Elder, JT
通讯作者：
Elder, JT
影响因子：
4.9
作者：
Butt, C;Peddle, L;Rahman, P
通讯作者：
Rahman, P
DOI：
10.1073/pnas.112212199
发表时间：
2002-05-28
影响因子：
11.1
作者：
Lettice, LA;Horikoshi, T;Noji, S
通讯作者：
Noji, S
影响因子：
20.3
作者：
Cotta, CV;Zhang, Z;Klug, CA
通讯作者：
Klug, CA