PTPN22 R620W polymorphism and ANCA disease risk in white populations: a metaanalysis.

PTPN22 R620W polymorphism and ANCA disease risk in white populations: a metaanalysis.
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白人群体中 PTPN22 R620W 多态性和 ANCA 疾病风险:荟萃分析。

DOI:
10.3899/jrheum.131430
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发表时间:
2015-02
期刊:
The Journal of rheumatology
影响因子:
--
通讯作者:
Li W
Li W
中科院分区:
其他
文献类型:
--
作者:
Cao Y;Liu K;Tian Z;Hogan SL;Yang J;Poulton CJ;Falk RJ;Li W

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PTPN 22 R620 W多态性和抗中性粒细胞胞浆抗体(ANCA)疾病尚未达成明确的共识,特别是当按ANCA特异性和疾病表型分层时。在4项研究中对1399例白色ANCA病患者和9934例正常对照受试者的PTPN 22 R620 W多态性进行了荟萃分析。总体而言,荟萃分析显示,在所有受试者中,A等位基因与ANCA疾病之间存在统计学显著相关性(OR 1.44,95%CI 1.26-1.64,p < 0.00001),按疾病分类分层表明A等位基因与肉芽肿伴多血管炎相关(Wegener's; GPA; OR 1.72,95%CI 1.35-2.20,p < 0.0001)和显微镜下多血管炎(MPA; OR 1.53,95%CI 1.08-2.15,p = 0.02)。然而,当按ANCA特异性分层时,A等位基因在蛋白酶3(PR 3)ANCA疾病患者中的相关性在统计学上是明显的。(OR 1.74,95% CI 1.25-2.430,p = 0.001),具有相同的趋势,但与髓过氧化物酶ANCA疾病无统计学相关性(OR 1.94,95% CI 0.64-5.85,p = 0.24)。该等位基因与肺结核的发生也有显著的相关性。(OR 1.69,95% CI 1.21-2.36,p = 0.002),ENT(OR 2.03,95% CI 1.45-2.84,p < 0.0001),皮肤(OR 2.55,95% CI 1.69-3.84,p < 0.0001)和周围神经病变受累(OR 2.12,95% CI 1.39-3.22,p = 0.0005)。PTPN 22 620 W等位基因赋予白人ANCA疾病的发生和发展的易感性,在GPA、MPA和PR 3 ANCA亚群中具有特异性证据。(J Rheumol First Release Dec 1 2014; doi:10.3899/jrheum.131430)
No clear consensus has been reached on the PTPN22 R620W polymorphism and anti-neutrophil cytoplasmic antibody (ANCA) disease, especially when stratified by ANCA specificity and disease phenotypes. A metaanalysis was conducted on the PTPN22 R620W polymorphism across 4 studies in 1399 white patients with ANCA disease and 9934 normal control subjects. Overall, metaanalysis showed a statistically significant association between the A allele and ANCA disease in all subjects (OR 1.44, 95% CI 1.26–1.64, p < 0.00001), and stratification by disease category indicated the A allele was associated with granulomatosis with polyangiitis (Wegener’s; GPA; OR 1.72, 95% CI 1.35–2.20, p < 0.0001) and microscopic polyangiitis (MPA; OR 1.53, 95% CI 1.08–2.15, p = 0.02) as compared to controls. However, when stratified by ANCA specificity, the association of the A allele was statistically evident among those with proteinase 3 (PR3) ANCA disease (OR 1.74, 95% CI 1.25–2.430, p = 0.001), with the same trend but not statistically associated with myeloperoxidase ANCA disease (OR 1.94, 95% CI 0.64–5.85, p = 0.24). The marked associations were also demonstrated between this allele with lung (OR 1.69, 95% CI 1.21–2.36, p = 0.002), ENT (OR 2.03, 95% CI 1.45–2.84, p < 0.0001), skin (OR 2.55, 95% CI 1.69–3.84, p < 0.0001), and peripheral neuropathy involvement (OR 2.12, 95% CI 1.39–3.22, p = 0.0005). The PTPN22 620W allele confers susceptibility to the occurrence and development of ANCA disease in whites, with specific evidence among subsets with GPA, MPA, and PR3 ANCA. (J Rheumatol First Release Dec 1 2014; doi:10.3899/jrheum.131430)
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