<i>TNFR2</i> is not associated with rheumatoid arthritis susceptibility in a Caucasian population

Potter, Catherine; Worthington, Jane; Silman, Alan J.; Barton, Anne

doi:10.1002/art.21200

Cited by 6 publications

(3 citation statements)

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“…[31]. Additional studies have variably observed an increased prevalence of the 196R allele in familial RA [27, 29, 32, 33], and Crohn’s disease [30]. Other polymorphisms (but not R196M) of the TNFRSF1B locus have also been associated with coronary artery disease or familial hyperlipidemia [39, 40], which are risk factors for development of heart failure.…”

Section: Discussionmentioning

confidence: 99%

“…The M196 and R196 forms differ in their ability to mediate TNF signaling and activate downstream pathways and pathologic processes (such as apoptosis), such that the R196 form allows less activation of NFκB and recruitment of TRAF2, and greater induction of apoptosis after activation of the TNFRI pathway [28]. Additional studies have observed elevated frequencies of the R196 TNFRII allele in various inflammatory and/or autoimmune diseases (including SLE, Crohn’s disease, and familial rheumatoid arthritis), suggesting a role for this allele in inflammatory diseases [25, 29, 30], although conflicting reports exist [31–33]. In this study we examined a population of patients with severe heart failure so as to test the hypothesis that the TNFRFS1B 587G allele is linked to worse survival or worse function in severe heart failure patients.…”

Section: Introductionmentioning

confidence: 99%

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The methionine 196 arginine polymorphism of the TNF receptor 2 gene (TNFRSF1B) is not associated with worse outcomes in heart failure

et al. 2012

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Tumor necrosis factor α (TNFα) may contribute to the pathologic process of congestive heart failure (CHF). TNFα signaling occurs through two receptors; TNFR1 (TNFRSF1A) and TNFRII (TNFRSF1B). In humans a single nucleotide polymorphism (rs1061622 in TNFRSF1B exon 6; T587G) encodes two different amino acids (M196R) in the transmembrane region . The 587G allele is associated with greater severity and/or prevalence of some inflammatory diseases, but its role in CHF in unknown. This study sought to test the hypothesis that the 587G allele is associated with a worse outcome or more severe phenotype in CHF. Peripheral blood DNA was isolated and genotyped from 379 heart failure patients enrolled in a genetic outcome study (GRACE); (44.7% ischemic, 70.4% male, 8.5% black race, age 55.6+/−11.7 yr (SD), LVEF 0.245+/−8.3%, NYHA 2.53+/−0.64). Genotyping was performed by PCR-RFLP. Cardiac function was assessed from medical records at study entry. The distribution of genotypes in this population was 54% T/T, 38.4% G/T, and 7.7% G/G. Mean LV ejection fraction (T/T 24.4+/−8.2, T/G 25.0+/−8.4, G/G 23.3+/−8.6, n=352, p=ns) and LV end-diastolic dimensions (T/T 6.57+/−0.93, T/G 6.53+/−1.0, G/G 6.57+/−0.78, n=211, p=ns) were comparable in all groups. Transplant-free survival (median 23 months (range 1–62 months) did not vary by genotype (p=0.95). A lack of effect (p=0.74) on transplant-free survival was also observed in a subset of patients with ischemic heart failure (n=169). The TNFRSF1B 587G allele is not associated with the severity of heart failure phenotype or clinical outcomes in patients with chronic CHF.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The methionine 196 arginine polymorphism of the TNF receptor 2 gene (TNFRSF1B) is not associated with worse outcomes in heart failure

et al. 2012

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“…genotyping on different days). Even with rejection of any incomplete genotype data and duplicate genotyping of a proportion of both case and control cohorts, some spurious studies may still be published in good faith [118,119]. Checking of HardyWeinberg equilibria is an important aspect of validating genotype data [107,112,120] (The Hardy-Weinberg equilibrium is a fundamental principle in population genetics; the genotype frequencies of a large, randomly mating population remain constant provided immigration, mutation and selection do not take place).…”

Section: Inconsistency In Gene Association Studiesmentioning

confidence: 99%

The human genome and understanding of common disease: present and future technologies

McKinney

Merriman

2007

Cell. Mol. Life Sci.

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The study of candidate genes over the past three decades has yielded notable successes in common-disease genetics. During this time, however, interpretation of genetic association studies has been hampered by the use of clinical cohorts of inadequate power and insufficient information on genetic variation in candidate genes. The unavailability of highthroughput and low-cost genotyping technologies has also limited the scope of complex-disease genetic studies. More recently, however, the sequencing and characterization of variation within the human genome has revolutionized genetic studies and enabled full genome-wide scans for genes associated with disease. The identification of disease-associated (causative) genes has illuminated disease mechanisms. The translation of this knowledge into direct clinical benefit in diagnosis, prognosis and therapy for an individual's disease still remains a challenge.

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Associations between functional TNFR2 196 M/R polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis

2014

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Several studies have examined the effects of tumor necrosis factor receptor (TNFR) 1 +38 A/G and TNFR2 196 M/R polymorphisms on susceptibility to RA and have reported conflicting results. The purpose of this study was to examine whether the TNFR1 +38 A/G and TNFR2 196 M/R polymorphisms are associated with RA susceptibility. We performed a literature search using the Medical Literature Analysis and Retrieval System Online and Embase citation indices, and conducted a meta-analysis to examine the association between the TNFR1 +38 A/G and TNFR2 196 M/R polymorphisms and RA. Our meta-analysis included a total of 13 studies from 11 articles, consisting of 11 studies of the TNFR2 polymorphism (2,092 cases and 1,483 controls), and two studies of the TNFR1 polymorphism (672 cases and 288 controls). The meta-analysis revealed a significant association between the TNFR2 196 RR genotype and RA risk (OR 1.737, 95 % CI 1.275-2.367, P = 4.6 × 10(-5)). Stratification by ethnicity indicated an association between the TNFR2 196 RR genotype and RA in Europeans (OR 2.054, 95 % CI 1.305-3.232, P = 0.002), but not in East Asians (OR 1.596, 95 % CI 0.642-3.971, P = 0.314). Analysis using a homozygote contrast model showed the same pattern for the TNFR2 196 RR genotype in a European and East Asian population. However, no association was found between the TNFR1 +36 A/G polymorphism and RA in a European population. Our meta-analysis demonstrated that the functional TNFR2 196 M/R polymorphism is associated with susceptibility to RA in the European population.

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TNFR2 is not associated with rheumatoid arthritis susceptibility in a Caucasian population

Cited by 6 publications

References 6 publications

The methionine 196 arginine polymorphism of the TNF receptor 2 gene (TNFRSF1B) is not associated with worse outcomes in heart failure

The methionine 196 arginine polymorphism of the TNF receptor 2 gene (TNFRSF1B) is not associated with worse outcomes in heart failure

The human genome and understanding of common disease: present and future technologies

Associations between functional TNFR2 196 M/R polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis

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