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在墨西哥人群中,八个 TNFAIP3 单核苷酸变异与类风湿关节炎无关。

No association of eight TNFAIP3 single nucleotide variants to rheumatoid arthritis in Mexicans.

机构信息

Department of Pharmacy, Division of Health Sciences, Universidad de Quintana Roo, Quintana Roo, Mexico.

Department of Endocrinology, Instituto Nacional de Cardiología, Mexico City, Mexico.

出版信息

Mol Biol Rep. 2022 Nov;49(11):11193-11199. doi: 10.1007/s11033-022-07855-7. Epub 2022 Sep 14.

Abstract

UNLABELLED

Rheumatoid arthritis (RA) is a chronic inflammatory disease of autoimmune origin with many associated genetic traits, including genes related to the control of inflammation. The A20 protein, encoded by the TNFAIP3 gene, is a negative regulator of NF-kB mediated inflammation. Several single nucleotide variants (SNVs) of TNFAIP3 are associated with susceptibility to RA in different ethnic groups, none of which has been evaluated in Mexican patients.

OBJECTIVE

To examine the possible association of eight TNFAIP3 SNVs in Mexican patients with RA.

MATERIALS

We studied 471 patients with RA and 500 controls, as well as eight TNFAIP3 SNVs: including, rs10499194C/T, rs6920220G/A, and rs2230926T/G, which have been associated with RA in European or Asian patients, in addition to rs373421182G/C, rs139054966T/G, rs5029924C/T, rs59693083A/G and rs61593413T/A, not previously examined in RA. All SNVs were evaluated by means of an allelic discrimination assay using TaqMan probes.

RESULTS

The allelic and genotypic frequencies of all SNVs examined were similar between cases and controls, and none of them was associated with RA under the allelic, codominant, dominant, and recessive models, as well as in haplotype combinations.

CONCLUSION

Our data indicate that TNFAIP3 SNVs evaluated herein are not risk factors for RA in Mexican subjects.

摘要

背景

类风湿关节炎(RA)是一种自身免疫性的慢性炎症性疾病,有许多相关的遗传特征,包括与炎症控制相关的基因。A20 蛋白由 TNFAIP3 基因编码,是 NF-kB 介导炎症的负调节因子。TNFAIP3 的几个单核苷酸变异(SNVs)与不同种族人群的 RA 易感性相关,但在墨西哥患者中尚未进行评估。

目的

研究 TNFAIP3 8 个 SNVs 在墨西哥 RA 患者中的可能相关性。

材料和方法

我们研究了 471 例 RA 患者和 500 例对照,以及 8 个 TNFAIP3 SNVs:包括 rs10499194C/T、rs6920220G/A 和 rs2230926T/G,这些 SNVs 与欧洲或亚洲患者的 RA 相关,此外还包括 rs373421182G/C、rs139054966T/G、rs5029924C/T、rs59693083A/G 和 rs61593413T/A,这些 SNVs 以前未在 RA 中进行过研究。所有 SNVs 均采用 TaqMan 探针等位基因鉴别检测进行评估。

结果

所有研究的 SNVs 的等位基因和基因型频率在病例和对照之间无差异,且在等位基因、共显性、显性和隐性模型以及单倍型组合下,均与 RA 无关。

结论

我们的数据表明,本文评估的 TNFAIP3 SNVs 不是墨西哥人群中 RA 的危险因素。

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