We show each copy of IGHV4-61*02 is associated with a 1.4-fold increase in the risk of RHD (odds ratio 1.43, 95% confidence intervals 1.27-1.61, P=4.1 × 10<sup>-9</sup>).
The TNF-α(-308) AA and GA genotypes were associated with susceptibility to RHD (p=0.012; OR=9.94; CI; 1.21-217.3 and p=0.046; OR=1.97; CI=0.98-3.97 respectively) while the GG genotype seemed to confer resistance (p=0.003; OR=0.39; CI=0.20-0.76).
The TNF-alpha -238 adenine (AA) (p=0.036) and -308AA (p=0.003) genotypes were more frequent in RHD patients than in controls, and were associated with increased production of TNF-alpha (p=0.00001 for 238AA) and (p=0.001 for 308AA).
In a pair-matched case-control study (239 versus 478) conducted in Chinese Han population, we investigated the association between tumor necrosis factor-alpha-induced protein 3 (TNFAIP3) gene, tumor necrosis factor receptor-associated factor 1 (TRAF1) gene, complement component 5 (C5) gene, and rheumatic heart disease (RHD).
Predisposition to RHD is influenced by genetic factors including cytokine gene polymorphisms, with possible susceptibility to severe disease with multivalvular affection among cases with composite polymorphism (TNF-alpha(-308 )A/A and IL-10(-1082) A/A) and (TNF-alpha(-308 )A/A and IL-10(-1082) G/G).
Predisposition to RHD is influenced by genetic factors including cytokine gene polymorphisms, with possible susceptibility to severe disease with multivalvular affection among cases with composite polymorphism (TNF-alpha(-308 )A/A and IL-10(-1082) A/A) and (TNF-alpha(-308 )A/A and IL-10(-1082) G/G).
Tumor necrosis factor (TNF)-alpha is also located in the same chromosomal region of HLA genes and has been investigated in RHD patients from Mexico, Turkey, and Brazil.
Recent studies have demonstrated that allelic variations at the tumour necrosis factor alpha (TNFalpha) locus are involved in the nature of rheumatic diseases such as juvenile idiopathic arthritis and rheumatic heart disease.
Polymorphism at the promoter region of TNF-alpha gene (-308 A) has recently been shown to be associated with rheumatic heart disease (RHD) in Mexican patients.
The data demonstrate that RHD is associated with TNF-alpha polymorphisms in the Mexican population; however, these polymorphisms do not have relation with the valve damage.
ATAC-seq analysis showed that stem-like CD8 T cells had a unique signature implicating activity of HMG (TCF) and RHD (NF-κB) transcription factor family members in contrast to higher accessibility to ETS and RUNX motifs in exhausted CD8 T cells.
There was 100% concordance between fetal RHD genotyping of cff-DNA and RhD phenotype on cord blood for both extraction methods on both fresh and frozen cff-DNA.
This study demonstrates that foetal RHD detection on maternal plasma using a commercial multiple-exon assay is a reliable and accurate tool to predict foetal RhD phenotype.
RhD phenotypes that express a significantly reduced amount of RhD antigen per red blood cell may be mistyped as RhD-negative by standard serologic methods.
Prospective comparison of fetal RHD genotype determined from fetal DNA in maternal plasma with the serologically determined fetal RhD phenotype from cord blood.
The results were then compared with the RHD fetal genotype determined on amniotic cells and/or the RhD phenotype of the red blood cells of the infants at birth.
Meta-analysis showed that there was no correlation between IL-10-1082G/A gene polymorphism and rheumatic heart disease [AA+AG VS GG: OR = 0.62, 95% CI (0.28, 1.39), <i>P</i> = 0.25; AA VS AG+GG: OR = 0.73, 95% CI (0.54, 1.00), <i>P</i> = 0.05; AA VS GG: OR = 0.70, 95% CI(0.47, 1.05), <i>P</i> = 0.08; AG VS GG: OR = 0.65, 95% CI (0.22, 1.92), <i>P</i> = 0.43; A VS G: OR = 0.87, 95% CI (0.71, 1.06), <i>P</i> = 0.17].
This review summarizes the studies based on association of interleukin-10 with RHD in different populations to understand the role of IL-10 in susceptibility and pathogenesis of the disease.