Familial versus sporadic ankylosing spondylitis. two different diseases?

Calin, Andrei; Kennedy, L G; Edmunds, Laurel; Will, R.

doi:10.1002/art.1780360515

Cited by 29 publications

(19 citation statements)

References 9 publications

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“…Lower inflammatory conditions in spite of the higher prevalence of HLA-B27 in the familial AS group were remarkable in this report. This is similar to the findings from a study that showed that familial disease was milder in metrological measures than sporadic disease (11). To the best of our knowledge, this study is the first to examine familial AS and its clinical manifestations in Asia.…”

Section: Discussionsupporting

confidence: 90%

“…Subjective outcomes such as pain, disability and objective radiographic changes were influenced by familiality (10). A UK study reported that familial AS was a milder disease than the sporadic disease in terms of spinal mobility, physical, emotional and social well-being (11). According to a Spainish study, being female and having a young age at symptom onset, longer disease duration, uveitis, HLA-B27, higher pain visual analogue scale (VAS), higher Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and a good response to non-steroidal anti-inflammatory drugs (NSAIDs) were reported to be associated with familiality (12).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

et al. 2014

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“…In one study [26], familial versus sporadic Dutch AS patients exhibited no difference in age at disease onset, age at diagnosis, or prevalence of peripheral arthritis and acute anterior uveitis. In another study, familial AS disease was significantly milder than sporadic disease, as assessed by spinal mobility score, Arthritis Impact Measurement Scales (AIMS) overall impact score, AIMS physical activity score, AIMS social function score and AIMS pain score [27]. Thus, findings from multiplex families might not be directly applicable to individuals affected with sporadic AS.…”

Section: Discussionmentioning

confidence: 99%

ANKHvariants associated with ankylosing spondylitis: gender differences

et al. 2005

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The ank (progressive ankylosis) mutant mouse, which has a nonsense mutation in exon 12 of the inorganic pyrophosphate regulator gene (ank), exhibits aberrant joint ankylosis similar to human ankylosing spondylitis (AS). We previously performed family-based association analyses of 124 Caucasian AS families and showed that novel genetic markers in the 5' flanking region of ANKH (the human homolog of the murine ank gene) are modestly associated with AS. The objective of the present study was to conduct a more extensive evaluation of ANKH variants that are significantly associated with AS and to determine whether the association is gender specific. We genotyped 201 multiplex AS families with nine ANKH intragenetic and two flanking microsatellite markers, and performed family-based association analyses. We showed that ANKH variants located in two different regions of the ANKH gene were associated with AS. Results of haplotype analyses indicated that, after Bonferroni correction, the haplotype combination of rs26307 [C] and rs27356 [C] is significantly associated with AS in men (recessive/dominant model; P = 0.004), and the haplotype combination of rs28006 [C] and rs25957 [C] is significantly associated with AS in women (recessive/dominant model; P = 0.004). A test of interaction identified rs26307 (i.e. the region that was associated in men with AS) as showing a difference in the strength of the association by gender. The region associated with AS in women only showed significance in the test of interaction among the subset of families with affected individuals of both genders. These findings support the concept that ANKH plays a role in genetic susceptibility to AS and reveals a gendergenotype specificity in this interaction.

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“…For CD, an earlier age of onset and a higher frequency of exclusively colonic disease was shown in familial cases [41][42][43][44][45]. The familial form of AS is associated with a milder disease phenotype [46], and high heritability of disease severity was shown [47,48]. To what extent these observations hold true in mixed SpA/IBD families is not known.…”

Section: Familial Clustering Of Spondyloarthro-pathy and Inflammatorymentioning

confidence: 99%

Genetics of Spondyloarthropathies and Inflammatory Bowel Disease: Searching for Common Susceptibility Factors

Laukens¹,

Vos

2008

CRR

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Ileocolonoscopic evidence for subclinical gut inflammation is found in a subpopulation of spondyloarthropathy (SpA) patients. The prevalence of microscopic intestinal lesions is even higher and can be classified as either an acute or a chronic type of inflammation. The latter condition is associated with an increased risk of developing overt inflammatory bowel disease (IBD), especially Crohn's disease (CD), over time. Evidence for genetic predisposition in both SpA and IBD is strong, and has resulted in the identification of several linked chromosomal loci and putative candidate genes. The regular co-existence of SpA and IBD within the same family suggests a common genetic component. Interestingly, comparison of genome-wide linkage and association data reveals thirteen disease-associated chromosomal regions that are shared between SpA and IBD. This should convince geneticists to examine genes within these regions as potential susceptibility genes for the development of both SpA and IBD. Significant association of such shared genetic determinants was established for NOD2 (16q), the major histocompatibility complex I allele HLA-B27 (6p) and recently also the interleukin 23 receptor (1p). Transgenic animals in which tumor necrosis factor alpha or HLA-B27 is overexpressed suffer both joint and gut abnormalities resembling human SpA/CD pathology, providing additional evidence for a common genetic predisposition for the onset of joint and gut inflammation. In view of a hypothetical pathway leading to intestinal and articular inflammation in SpA and IBD, we review and compare genome-wide linkage and genetic association data obtained for SpA and IBD.Keywords: Spondyloarthropathy, Crohn's disease, genetic susceptibility, NOD2, HLA-B27, IL23R.Spondyloarthropathy (SpA) and inflammatory bowel disease (IBD) are chronic inflammatory conditions in which the initiating events are complex. In SpA, the axial skeleton, the sacroiliac joints and, to a lesser degree, peripheral joints become inflamed, whereas in IBD involving Crohn's disease (CD) and ulcerative colitis (UC), the intestine is the primary site of inflammation. The estimated prevalence in Western countries is 0.3-2% for SpA and 0.1-0.3% for IBD. The unity between SpA and IBD is illustrated by a strong clinical as well as molecular overlap. The first symptoms present themselves in early adulthood, usually before the age of 30, but early childhood and late onset disease occur sporadically. Medical treatment is mainly based on diminishing the inflammation and maintaining the remission states. Spondyloarthropathy is a heterogeneous group generally divided into 5 disease categories: ankylosing spondylitis (AS), reactive arthritis (ReA), psoriatic arthritis (PsA), SpA associated with IBD (SpA-IBD) and undifferentiated SpA. In the SpA-IBD group, patients suffer from clinically overt CD or UC. However, the gut is also an important site of inflammation in patients belonging to the other SpA disease categories. In ileocolonoscopic studies of SpA patients, histological ...

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Familial versus sporadic ankylosing spondylitis. two different diseases?

Cited by 29 publications

References 9 publications

Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

ANKHvariants associated with ankylosing spondylitis: gender differences

Genetics of Spondyloarthropathies and Inflammatory Bowel Disease: Searching for Common Susceptibility Factors

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