揭示TAGAP 3'UTR非编码多态性在类风湿关节炎中的遗传意义：病例对照和生物信息学方法

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-08-27 DOI:10.1016/j.genrep.2025.102330

M. Shri Preethi , V. Shamala , N. Balaji , S. Asha Devi

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引用次数: 0

摘要

类风湿性关节炎（RA）是一种慢性炎症性疾病，影响关节并导致骨骼畸形。t细胞激活Rho gtpase激活蛋白（TAGAP）基因内的单核苷酸多态性（snp）增加了RA发展的风险。在RA患者中观察到TAGAP基因的高表达。采用高分辨率熔融分析（HRMA）技术对TAGAP rs4709267 (A/G) SNP进行基因分型，该SNP位于3 ' untranslationregion （UTR）。为了进一步研究rs4709267 SNP对TAGAP基因表达水平的影响，我们将带有野生(A)和变异(G)等位基因的TAGAP 3’utr序列克隆到pGL3-SV40载体中。将克隆载体转染HeLa细胞，以pRL-SV40 （Renilla质粒）载体为内参进行荧光素酶报告基因检测。HRMA结果显示，TAGAP 3'UTR rs4709267 SNP-G等位基因与印度人群RA具有统计学相关性。荧光素酶表达水平显著升高（p < 0.05），提示rs4709267 SNP可能通过影响TAGAP基因表达水平与RA相关。

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Unveiling the genetic implications of TAGAP 3′UTR non-coding polymorphism in rheumatoid arthritis: A case-control and bioinformatics approach

Rheumatoid Arthritis (RA) is a chronic inflammatory disease that affects joints and causes bone deformities. Single Nucleotide Polymorphisms (SNPs) within the T-cell activation Rho GTPase-activating protein (TAGAP) gene increase the risk of RA development. High expression of the TAGAP gene has been observed in RA patients. High-Resolution Melting Analysis (HRMA) technique was used to genotype TAGAP rs4709267 (A/G) SNP, located in the 3′Untranslated Region (UTR). Further, to investigate the impact of the rs4709267 SNP on the TAGAP gene expression level, the TAGAP 3′UTR sequences with wild (A) and variant (G) alleles were cloned into the pGL3-SV40 vector. The cloned vectors were transfected into HeLa cells, and the luciferase reporter assay was performed using the pRL-SV40 (Renilla plasmid) vector as an internal control. The HRMA result reveals that the TAGAP 3′UTR rs4709267 SNP-G allele was statistically associated with RA in the Indian population. Also, a significant increase (p < 0.05) in the expression of luciferase level suggests that the rs4709267 SNP may be associated with RA by affecting the TAGAP gene expression levels.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.