Autoimmune Diseases

Davidson, Anne; Diamond, Betty

doi:10.1056/nejm200108023450506

Cited by 996 publications

(721 citation statements)

References 157 publications

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“…In autoimmune diseases, dysregulated lymphocytes react against self antigens by producing autoantibodies and suppressing normal immune function; the synovial joints of RA patients are particularly affected (1,2). Studies on twins have shown a higher disease concordance between monozygotic twins as compared with dizygotic twins, consistent with the idea that RA has heritable causes (1); the familial relative risk between siblings has been reported to range between 5 and 10 (3,4).…”

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confidence: 91%

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Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions

Hemminki¹,

Li²,

Sundquist³

et al. 2009

Arthritis & Rheumatism

201

138

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Objective. In the era of genome-wide association studies, familial risks are used to estimate disease heritability and the likelihood of candidate-gene identification. This study was undertaken to estimate associations of rheumatoid arthritis (RA) with any of 33 autoimmune diseases and related conditions among parents and offspring, singleton siblings, twins, and spouses.Methods. The Multigeneration Register in Sweden was used as a reliable source of information on Swedish families throughout the last century. Data on autoimmune diseases in individual family members were obtained through linkage to the Hospital Discharge Register. The standardized incidence ratio (SIR) was calculated as a measure of the relative risk of RA in family members of patients with RA or any of 33 other autoimmune diseases or related conditions, as compared with the relative risk of RA in those lacking an affected family member.

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confidence: 91%

“…The HLA association and some of the other susceptibility genes for RA are shared by some other autoimmune diseases (4). Even family studies have noted clustering of other autoimmune diseases in families of RA patients (2,(7)(8)(9)(10)(11).…”

mentioning

confidence: 99%

Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions

Hemminki¹,

Li²,

Sundquist³

et al. 2009

Arthritis & Rheumatism

201

138

View full text Add to dashboard Cite

show abstract

“…Rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) are common autoimmune and complex rheumatic diseases. 1 Although RA and SLE are considered as idiopathic diseases, both the higher concordance rates and familial aggregation indicate a significant genetic influence on their pathogenesis. [2][3][4] Human leukocyte antigen genes are the strongest genetic locus known to be associated with susceptibility to both diseases.…”

Section: Introductionmentioning

confidence: 99%

STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians

et al. 2008

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The aim of this study was to determine the influence of STAT4 (rs7574865) and TRAF1/C5 (rs10818488 and rs2900180) gene polymorphisms on the risk of developing rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Colombian population. This was a case-control study in which 839 individuals with RA (N ¼ 274) and SLE (N ¼ 144) and matched healthy controls (N ¼ 421) were included. Genotyping was performed by using a polymerase chain reaction system with pre-developed TaqMan allelic discrimination assay. STAT4 rs7574865T allele disclosed a significant influence on the risk of developing SLE (P ¼ 0.0005; OR 1.62, 95% CI 1.22-2.16) and RA (P ¼ 0.008; OR 1.36; 95% CI 1.08-1.71), whereas no effect on these autoimmune diseases was observed for the TRAF1/C5 polymorphisms examined. Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for RA and SLE and provide further evidence for a common origin of autoimmune diseases.

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“…Nevertheless, humoral and cell-mediated immune reactions against self-constituents occur in patients with autoimmune diseases [1]. Autoantigens are a diverse class of molecular structures consisting mostly of proteins, but also including carbohydrates and polynucleotides.…”

Section: Introductionmentioning

confidence: 99%

Single nucleotide polymorphisms as a prerequisite for autoantigens

et al. 2005

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It is still elusive why certain self proteins induce an autoimmune response. One immunological hypothesis is that only modified or altered self‐proteins may become a target. Thus, we asked whether such alterations may actually be genetic polymorphisms that can be revealed by analyzing sequence variability in the known human autoantigens. Indeed, we found autoantigens to contain significantly more single nucleotide polymorphisms (SNP) than other human genes do. Our finding may offer an explanation for autoimmune responses through allogeneic exposure. Besides other contributing factors in autoimmunity, SNP may represent an essential prerequisite for the primary induction of an autoimmune response.See accompanying Commentary: http://dx.doi.org/10.1002/eji.200425888

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Autoimmune Diseases

Cited by 996 publications

References 157 publications

Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions

Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions

STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians

Single nucleotide polymorphisms as a prerequisite for autoantigens

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