Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?

Joshi, Reeti; Reveille, John D.; Brown, Matthew A.; Weisman, Michael H.; Ward, Michael M.; Gensler, Lianne S.; Wordsworth, B P; Evans, David M.; Assassi, Shervin

doi:10.1002/acr.21601

Cited by 21 publications

(17 citation statements)

References 12 publications

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“…These findings strongly proved the presence of non-MHC genes involved in AS which was consistent with the prior results. However, a report showed that the familial aggregation was related to HLA-B27 other than the non-MHC susceptibility loci described recently [49]. The reason for the phenomenon needs to be explored in the future.…”

Section: Discussionmentioning

confidence: 99%

Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

Zhai

et al. 2013

Clinical and Developmental Immunology

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Purpose. Ankylosing spondylitis (AS) is a systemic, autoimmune disease resulting in the destruction of the affected joints. Over the past 5 years, several new genes or genetic regions associated with AS have been identified in the Chinese population. This paper aims to discuss the major findings and related potential mechanisms of these studies in our population. Recent Findings. In recent years, due to the rapid advances in computational genetics and technology, there has been an increasing list of well-validated genes or genetic regions associated with AS susceptibility. So far, several genes or genetic regions have now been reported in the Han ethnic Chinese population, containing the major histocompatibility complex (MHC), ERAP1, IL-23R, 12q12, 2p15, 5q14.3, and so on. Different hypotheses for disease mechanisms have been investigated on the basis of the functional studies of these genes or genetic regions. Summary. This paper tries to summarize the association of several candidate genes with risk for AS in the Han ethnic Chinese population and aims to identify the novel inflammatory pathways and provide potential strategies for better therapies.

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Section: Discussionmentioning

confidence: 99%

Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

Zhai

et al. 2013

Clinical and Developmental Immunology

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“…Moreover, homozygosity for HLA-B27 not only enhances disease risk but also the likelihood of familial aggregation and uveitis [4, 6]. How HLA-B27 influences susceptibility to SpA has eluded investigators for over 40 years; however, recent genetic findings have cast light on this.…”

Section: The Role Of Hla-b27mentioning

confidence: 99%

An update on the contribution of the MHC to as susceptibility

Reveille

2014

Clin Rheumatol

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The 40-year-old association of HLA-B27 with ankylosing spondylitis is one of the best examples of disease association with a hereditary marker. Genomewide association and family studies suggest that other important major histocompatibility complex (MHC) influences are operative in ankylosing spondylitis (AS) susceptibility. HLA-B27 positive hepatitis C individuals are immunologically more efficient in combating viral infections such as HIV-1, hepatitis C, and influenza and less efficient in combating against certain bacteria (and perhaps other organisms) capable of surviving intracellularly. A recent representative population survey of the frequency of HLA-B27 in the USA found a lower frequency of HLA-B27 in older US adults, perhaps reflecting this. Other HLA class I and class II alleles have been implicated in AS susceptibility, the most consistent being HLA-B*40/B60 (B*40:01) but also B14, B15, A*0201, DRB1*04:04, and certain DPA1 and DPB1 alleles. Non-HLA MHC alleles have also been implicated, although many such studies have been inconsistent, likely due to power issues related to the low number of HLA-B27-negative AS patients examined. The best evidence is for major histocompatibility complex class I chain-related gene A (MICA) whose recognition by intestinal epithelial T cells expressing different V-delta-1 gamma/delta TCR further implicates the gut in AS pathogenesis. The HLA class I and class II and other non-HLA allelic associations underscore the importance of T cells in AS pathogenesis.

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“…However, the GWAS study did not find any difference between the familial group and sporadic group (25). Although a significantly higher prevalence of HLA-B27 was demonstrated in familial AS patients in this study, the presence of HLA-B27 still cannot predict or discriminate familial disease in the AS cohort.…”

Section: Discussionmentioning

confidence: 81%

Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

et al. 2014

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Clustered occurrences of ankylosing spondylitis (AS) in family have been noticed. We evaluated patients with AS confirmed by the modified New York criteria for familial history of AS (one or more first to third degree relatives). The clinical characteristics and the recurrence risks (number of AS patients/number of familial members) of the familial AS compared to sporadic AS were investigated. Out of a total of 204 AS patients, 38 patients (18.6%) reported that they had a familial history of AS. The recurrence risks in the familial AS patients for first, second and third degree family members were 14.5%, 5.2%, and 4.4% respectively. Erythrocyte sedimentation rate (ESR) (22.6±22.2 vs 35.4±34.4, P=0.029) and C-reactive protein (CRP) (1.24±1.7 vs 2.43±3.3, P=0.003) at diagnosis, body mass index (21.9±2.7 vs 23.7±3.3, P=0.002) and frequency of oligoarthritis (13.2% vs 33.7%, P=0.021) were significantly lower in the familial form. The presence of HLA-B27 (97.4% vs 83.1%, P=0.044) was significantly higher in familial AS. In conclusion, Korean familial AS patients show a lower frequency of oligoarthritis, lower BMI, lower ESR and CRP at diagnosis and higher presence of HLA-B27.Graphical Abstract

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Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?

Cited by 21 publications

References 12 publications

Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

An update on the contribution of the MHC to as susceptibility

Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

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