Analysis of two T-cell receptor BV gene segment polymorphisms in caucasoid Brazilian patients with rheumatoid arthritis.

Immunol Lett

UFRGS-Departamento de Genética, Av Bento Gonçalves 9500, Caixa Postal 15053, CEP 91501-970, Porto Alegre RS, Brazil.

Published: December 2003

Considering the role of T-lymphocytes in rheumatoid arthritis (RA) and a possible involvement of the TCR in the pathology of this disease we analyzed allelic and genotypic frequencies of variants of two TCRBV gene segments (TCRBV3S1 and TCRBV18) in RA. A total of 95 caucasoid South Brazilian RA patients were genotyped for both TCRBV gene segment variants by restriction fragment length polymorphism preceded by PCR (PCR-RFLP) and the obtained frequencies were compared to those from healthy individuals. Allelic frequencies for the TCRBV3S1 gene segment were, respectively, for RA patients and controls, 0.447 and 0.545 (allele 1) and 0.553 and 0.455 (allele 2). Allelic frequencies for the TCRBV18 gene segment were, respectively, for RA patients and controls, 0.824 and 0.806 (allele 1) and 0.176 and 0.194 (allele 2). Neither allelic frequencies nor genotypic frequencies differ among RA and healthy individuals, suggesting that there is not a direct association among the TCRBV allelic variants studied and the development of RA and thus excluding the possibility of use of these gene segment polymorphisms as RA susceptibility markers.

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0165-2478(03)00174-3DOI Listing

Publication Analysis

Top Keywords

gene segment
20
allelic frequencies
12
segment polymorphisms
8
brazilian patients
8
rheumatoid arthritis
8
genotypic frequencies
8
tcrbv gene
8
healthy individuals
8
segment patients
8
patients controls
8

Similar Publications

Genome-wide identification and expression analysis of the BBX gene family in Lagerstroemia indica grown under light stress.

Int J Biol Macromol

January 2025

Hunan Key Laboratory for Breeding of Clonally Propagated Forest Trees, Hunan Academy of Forestry, Changsha, Hunan 410004, China. Electronic address:

B-box proteins (BBX) play pivotal roles in the regulation of numerous growth and developmental processes in plants, particularly the light-mediated biosynthesis of pigments. To elucidate the role of BBX transcription factors in the anthocyanin biosynthetic pathway of Lagerstroemia indica leaves, this study identified 41 BBX genes in the L. indica genome.

View Article and Find Full Text PDF

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Mol Genet Genomic Med

January 2025

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.

Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.

View Article and Find Full Text PDF

Background: Gallbladder neuroendocrine carcinoma (NEC) represents a subtype of gallbladder malignancies characterized by a low incidence, aggressive nature, and poor prognosis. Despite its clinical severity, the genetic alterations, mechanisms, and signaling pathways underlying gallbladder NEC remain unclear.

Case Summary: This case study presents a rare instance of primary gallbladder NEC in a 73-year-old female patient, who underwent a radical cholecystectomy with hepatic hilar lymphadenectomy and resection of liver segments IV-B and V.

View Article and Find Full Text PDF

Tibetan sheep play a vital role in the livelihoods of herders and are an important part of the ecosystem of the Tibetan Plateau. In order to study the characteristics of the gut microorganisms of Tibetan sheep at high altitude, this study employed macrogenomic techniques to analyse the diversity and differences in the gut flora of Tibetan sheep in different regions of high altitude and high cold. The results demonstrated that at the phylum level, the dominant phylum in the ileo-cecum segment of Tibetan sheep in Qilian, Henan and Gonghe counties was identical, namely , and .

View Article and Find Full Text PDF

In recent decades, the common and the tropical bed bugs have experienced a resurgence in many parts of the world. The evolution of insecticide resistance in bed bug populations is considered a significant factor contributing to this resurgence. We analyzed samples of Cimex lectularius L.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!