Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients.
Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients.
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DOI：
10.1155/2010/826434
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发表时间：
2010
影响因子：
--
通讯作者：
Niewold TB
中科院分区：
文献类型：
--
作者：
Kariuki SN;Franek BS;Mikolaitis RA;Utset TO;Jolly M;Skol AD;Niewold TB
PIK3C3 基因座涉及系统性红斑狼疮 (SLE) 的病例全基因组关联研究，我们进行该研究是为了检测与自身抗体和血清干扰素-α (IFN-α) 相关的基因。在此，我们在一个由 478 名 SLE 病例和 522 名对照组成的独立多祖先队列中检查了 PIK3C3 启动子变异 (rs3813065/-442 C/T)。 rs3813065 C 与非洲裔美国患者同时存在抗 Ro 和抗 Sm 抗体密切相关 [OR = 2.24 (1.34–3.73), P = 2.0 × 10−3]。这种自身抗体谱与较高的血清 IFN-α 相关（P = 7.6 × 10−6）。在 HapMap 约鲁巴群体中，rs3813065 与 ERAP2 的差异表达相关（P = 2.0 × 10−5），ERAP2 编码参与 MHC I 类肽加工的酶。因此，rs3813065 C 与特定的自身抗体谱和 MHC 肽加工酶的表达改变相关，表明该变异体调节非裔美国 SLE 患者的血清学自身免疫。
The PIK3C3 locus was implicated in case-case genome-wide association study of systemic lupus erythematosus (SLE) which we had performed to detect genes associated with autoantibodies and serum interferon-alpha (IFN-α). Herein, we examine a PIK3C3 promoter variant (rs3813065/-442 C/T) in an independent multiancestral cohort of 478 SLE cases and 522 controls. rs3813065 C was strongly associated with the simultaneous presence of both anti-Ro and anti-Sm antibodies in African-American patients [OR = 2.24 (1.34–3.73), P = 2.0 × 10−3]. This autoantibody profile was associated with higher serum IFN-α (P = 7.6 × 10−6). In the HapMap Yoruba population, rs3813065 was associated with differential expression of ERAP2 (P = 2.0 × 10−5), which encodes an enzyme involved in MHC class I peptide processing. Thus, rs3813065 C is associated with a particular autoantibody profile and altered expression of an MHC peptide processing enzyme, suggesting that this variant modulates serologic autoimmunity in African-American SLE patients.
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DOI：
10.4049/jimmunol.182.1.34
发表时间：
2009-01-01
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
--
作者：
Kariuki SN;Kirou KA;MacDermott EJ;Barillas-Arias L;Crow MK;Niewold TB
通讯作者：
Niewold TB
影响因子：
5.8
作者：
Gamazon, Eric R.;Zhang, Wei;Cox, Nancy J.
通讯作者：
Cox, Nancy J.
影响因子：
--
作者：
Niewold, Timothy B.;Kariuki, Silvia N.;Morgan, Gabrielle A.;Shrestha, Sheela;Pachman, Lauren M.
通讯作者：
Pachman, Lauren M.
影响因子：
6.9
作者：
DELISI, LE;SMITH, SB;GERSHON, ES
通讯作者：
GERSHON, ES
影响因子：
5.6
作者：
Fruci, Doriana;Giacomini, Patrizio;Natai, Pier Giorgio
通讯作者：
Natai, Pier Giorgio