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在中国汉族人群中,H19 和 HOX 转录反义 RNA(HOTAIR)内的单核苷酸多态性与系统性红斑狼疮、类风湿关节炎和原发性干燥综合征的遗传易感性无关。

No association of single nucleotide polymorphisms within H19 and HOX transcript antisense RNA (HOTAIR) with genetic susceptibility to systemic lupus erythematosus, rheumatoid arthritis, and primary Sjögren's syndrome in a Chinese Han population.

机构信息

Department of Rheumatology and Immunology, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

Department of Rheumatology and Immunology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

出版信息

Clin Rheumatol. 2017 Nov;36(11):2447-2453. doi: 10.1007/s10067-017-3833-0. Epub 2017 Sep 15.

Abstract

The H19 (rs2839698, rs3741219) and HOTAIR (rs920778) polymorphisms were related to many kinds of cancers. However, these polymorphisms have been scarcely explored in different autoimmune diseases. Here, we aimed to examine the association of the polymorphisms with susceptibility to or protection against systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and primary Sjögren's syndrome (pSS) among Chinese Han patients. We conducted a case-control study including 800 patients (300 with SLE, 350 with RA, and 150 with pSS) and 350 healthy control individuals. The polymorphisms were specified from genomic DNA using TaqMan genotyping assay on a 7300 real-time reverse transcription polymerase chain reaction system. H19 rs2839698 was not associated with SLE susceptibility and was not associated with RA and pSS, respectively (P > 0.05). Similarly, we did not find significant differences of allele or genotype frequencies between SLE, RA, and pSS patients and healthy controls for H19 gene rs3741219 polymorphism (P > 0.05). In addition, no significant evidence was detected for the relationship of HOTAIR rs920778 polymorphism with risk of these diseases. Our results suggested that H19 rs2839698, rs3741219, and HOTAIR rs920778 polymorphisms may not be involved in the genetic background of SLE, RA, and pSS in Chinese.

摘要

H19(rs2839698,rs3741219)和 HOTAIR(rs920778) 多态性与多种癌症有关。然而,这些多态性在不同的自身免疫性疾病中很少被探讨。在这里,我们旨在研究这些多态性与中国汉族患者系统性红斑狼疮(SLE)、类风湿关节炎(RA)和原发性干燥综合征(pSS)易感性或保护的相关性。我们进行了一项病例对照研究,包括 800 例患者(300 例 SLE、350 例 RA 和 150 例 pSS)和 350 例健康对照个体。使用 TaqMan 基因分型测定法在 7300 实时逆转录聚合酶链反应系统上从基因组 DNA 中指定多态性。H19 rs2839698 与 SLE 易感性无关,与 RA 和 pSS 分别无关(P>0.05)。同样,我们没有发现 H19 基因 rs3741219 多态性在 SLE、RA 和 pSS 患者与健康对照组之间的等位基因或基因型频率存在显著差异(P>0.05)。此外,没有检测到 HOTAIR rs920778 多态性与这些疾病风险之间的关系。我们的结果表明,H19 rs2839698、rs3741219 和 HOTAIR rs920778 多态性可能与中国人群中的 SLE、RA 和 pSS 的遗传背景无关。

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