Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population
Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population
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DOI：
10.1177/0961203312439333
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发表时间：
2012-07-01
期刊：
影响因子：
2.6
通讯作者：
Tsuchiya, N.
中科院分区：
文献类型：
--
作者：
Kawasaki, A.;Furukawa, H.;Tsuchiya, N.
干扰素调节因子7（IRF 7）在I型干扰素的产生中具有重要作用。虽然最近的研究检测到PHD和环指结构域1（PHRF 1）/KIAA 1542中的单核苷酸多态性（SNP）rs 4963128（靠近IRF 7）和IRF 7 rs 1131665（谷氨酰胺（Gln）412精氨酸（Arg））与系统性红斑狼疮（SLE）的关联，但尚未建立因果变异。在这项研究中，我们对IRF 7的外显子和内含子进行了重新测序，以筛选所有常见的多态性，并在416名日本SLE患者和505名健康对照者中检查它们是否与SLE相关。我们还测试了PHRF 1 rs 4963128与SLE的关联是否在日本人群中复制。IRF 7基因多态性与SLE无关。PHRF 1 rs 4963128 T等位基因与SLE的发生也无显著相关性，但在SLE伴抗Sm抗体组（6.8%）显著高于健康对照组（3.1%）（P = 0.014，OR 2.31）和SLE不伴抗Sm抗体组（3.3%，P =0.041，OR 2.12）。SLE合并肾脏疾病组中该等位基因的阳性率（5.1%）也高于无肾脏疾病组（2.4%）（P = 0.047，OR2.17）。这些结果证实了最近报道的PHRF 1 rs 4963128 T与抗Sm抗体阳性的非裔美国人SLE相关，并支持PHRF 1-IRF 7区域在SLE遗传学中的作用。Lupus（2012）21，890-895.
Interferon regulatory factor 7 (IRF7) has an essential role in the production of type I interferon. Although recent studies detected association of a single nucleotide polymorphism (SNP) rs4963128 in PHD and ring finger domains 1 (PHRF1)/KIAA1542, located closely to IRF7, and IRF7 rs1131665 (glutamine (Gln) 412 arginine (Arg)) with systemic lupus erythematosus (SLE), causal variants have not been established. In this study, we resequenced exons and introns of IRF7 to screen for all common polymorphisms, and examined whether they were associated with SLE in 416 Japanese patients with SLE and 505 healthy controls. We also tested whether the association of PHRF1 rs4963128 with SLE was replicated in a Japanese population. None of the IRF7 polymorphisms was associated with SLE. PHRF1 rs4963128T was not significantly associated with occurrence of SLE either; however, this allele was significantly increased in SLE with anti-Sm antibodies (6.8%) as compared with healthy controls (3.1%, P = 0.014, odds ratio [OR] 2.31) and SLE without anti-Sm antibodies (3.3%, P =0.041, OR 2.12). This allele was also increased in SLE with renal disorder (5.1%) as compared with those without renal disorder (2.4%, P = 0.047, OR 2.17). These results confirmed recently reported association of PHRF1 rs4963128T with anti-Sm antibody positive SLE in African-American populations, and supported the role of PHRF1-IRF7 region in the genetics of SLE. Lupus (2012) 21, 890-895.