Genetic Markers of Rheumatoid Arthritis Activity and Severity
Author Information
Author(s): Fonseca João Eurico, Cavaleiro João, Teles José, Sousa Elsa, Andreozzi Valeska L, Antunes Marília, Amaral-Turkman Maria A, Canhão Helena, Mourão Ana F, Lopes Joana, Caetano-Lopes Joana, Weinmann Pamela, Sobral Marta, Nero Patrícia, Saavedra Maria J, Malcata Armando, Cruz Margarida, Melo Rui, Braña Araceli, Miranda Luis, Patto José V, Barcelos Anabela, da Silva José Canas, Santos Luís M, Figueiredo Guilherme, Rodrigues Mário, Jesus Herberto, Quintal Alberto, Carvalho Teresa, da Silva José A Pereira, Branco Jaime, Queiroz Mário Viana
Primary Institution: Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa
Hypothesis
The study aims to assess whether clinical measures of rheumatoid arthritis activity and severity are influenced by tumor necrosis factor-alpha (TNF-α) promoter genotype/haplotype markers.
Conclusion
The study found associations between certain TNF-α promoter SNPs and systemic manifestations, radiological progression, HAQ score, work disability, and joint surgeries in rheumatoid arthritis patients.
Supporting Evidence
- Associations were found between the -857 SNP and systemic manifestations in patients with more than 10 years of disease duration.
- Associations were also found between the -308 SNP and work disability in patients with more than 2 years of disease duration.
- A borderline effect was found between the -238 SNP and HAQ score in patients with 2 to 10 years of disease duration.
- An association was found between haplotypes and the SvdH score for those with more than 10 years of disease duration.
Takeaway
Researchers looked at genes to see if they affect how bad rheumatoid arthritis can get, and they found some links.
Methodology
The promoter region of the TNF-α gene was sequenced, and associations were analyzed using multiple linear regression and logistic regression models.
Limitations
Some SNP markers were excluded due to failure to meet Hardy-Weinberg equilibrium or monomorphism, and some models could not accurately estimate associations due to missing data.
Participant Demographics
The mean age of participants was 57 years, with 85% being women.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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