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Background Besides the HLA-Cw*0602 allele, the psoriasis susceptibility 1 candidate 3 ( PSORS1C3) and corneodesmosin ( CDSN) genes are two probable psoriasis susceptibility genes in the PSORS1 locus. The −79C, −26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T–1236T–1243C) and CDSN*5 (619T–1240G–1243C) are strongly associated with psoriasis in the caucasian population. Until now, no haplotype study of the PSORS1C3 and CDSN genes has been documented in Chinese patients with psoriasis vulgaris. Objectives We aimed to determine whether genetic polymorphisms of the PSORS1C3 and CDSN genes were associated with an increased risk of psoriasis vulgaris in Chinese patients in Taiwan. Methods We investigated the PSORS1C3 and CDSN genes for disease association by direct sequencing in 178 patients with psoriasis vulgaris and 203 control subjects. Genotyping for HLA-Cw*0602, α-helix coiled-coil rod homologue ( HCR) gene and single nucleotide polymorphism (SNP) n.9 was also carried out using a sequence-based typing method. Results The PSORS1C3*582A allele, an SNP in the 3′-untranslated region of the PSORS1C3 gene, was a major psoriasis vulgaris susceptibility allele in the Chinese population, and the association was much stronger in patients with early-onset psoriasis vulgaris (22·3% vs. 6·9%, odds ratio = 3·87, Pc =0·0000072). The frequencies of CDSN*TTC and CDSN*971T were also significantly increased in patients with early-onset psoriasis vulgaris. Moreover, PSORS1C3*582A, SNP n.9*C, Cw*0602 and HCR*WWCC were in near complete linkage disequilibrium (LD) with each other; in contrast, the LD with the CDSN gene was not so strong. SNP n.9*C–Cw*0602–PSORS1C3*582A–HCR*WWCC was a major susceptibility haplotype in patients with early-onset psoriasis vulgaris ( P < 10−7) and this risk haplotype also carried CDSN*TTC and CDSN*971T. Conclusions The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris. [ABSTRACT FROM AUTHOR]

Objectives: To estimate the prevalence of spondyloarthritis (SpA) and the clinical features of human leucocyte antigen (HLA)-B27-associated acute anterior uveitis (HLA-B27 uveitis) in Chinese patients., Methods: We conducted a retrospective cohort study using a structured chart review to record the complete ocular history, including the onset of uveitis, month of uveitis attack, specific eye involvement, the time of first attack, and rheumatic manifestations from 1987 to 2004. A total of 504 patients with HLA-B27 uveitis were consequently enrolled consecutively from the uveitis clinic of Taipei Veterans General Hospital., Results: In total, 1719 attacks of uveitis in 504 patients were recorded. Females tended to have a higher frequency of attack than males, and those with a disease course of less than 5 years showed more uveitis recurrence. The same eye attacks were observed in 156 of 332 patients (47%), more than the expected percentage compared with attacks with random-eye occurrence (p < 0.001). A significantly higher number of uveitis attacks occurred in winter. SpA-related acute anterior uveitis (AAU) was found in 387 patients (76.8%). Ankylosing spondylitis (AS) occurred in 214 patients (42.5%), with a significantly higher prevalence in males than in females (p < 0.001). Undifferentiated SpA (USpA)-related AAU occurred in 150 patients (29.8%), with a significantly higher prevalence in females than in males (p < 0.001). Patients with SpA had an earlier onset of uveitis (p = 0.01) and a greater number (> or = 6) of attacks (p = 0.03)., Conclusions: The prevalence of SpA was high in the Chinese population with HLA-B27-associated uveitis. The association with SpA indicated an earlier age of uveitis onset and a greater likelihood of having a higher number of uveitis attacks.

Background: Previous studies have shown that cytokine gene polymorphisms may confer susceptibility to psoriasis., Objectives: To determine whether genetic polymorphisms of the cytokine genes might influence the development of psoriasis in Chinese patients in Taiwan., Methods: DNA samples were obtained from 170 patients with psoriasis vulgaris (PV), 102 patients with psoriatic arthritis (PsA) and 210 control subjects. Using direct sequencing and microsatellite genotyping, we examined 28 polymorphisms in 11 cytokine genes including the interleukin (IL)-1alpha, IL-1beta, IL-1 receptor antagonist, IL-4, IL-8, IL-10, IL-12B, IL-13, tumour necrosis factor (TNF)-alpha, TNF-beta and interferon-gamma genes. Genotypes of HLA-Cw*0602, killer cell immunoglobulin-like receptor (KIR) genes and major histocompatibility complex class I chain-related gene A (MICA) were also determined in patients with PsA., Results: The patients with PV were more likely to carry the +4496G allele of the IL-12B gene (59.4% vs. 49.3%, P = 0.0067, P(c) = 0.033). However, no significantly different allelic and genotypic distributions of the other analysed genes including IL-1beta, TNF-alpha, TNF-beta, KIR genes and MICA were found between the PV/PsA patients and controls. Moreover, no association was observed with disease onset, gender, peripheral arthritis or joint erosion. With regards to HLA-Cw*0602, its allele frequency was significantly increased in patients with early-onset PV (25.3% vs. 4.8%, P < 10(-7)), but not in patients with PsA., Conclusions: The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.

Objective: To test the association of interleukin 1 (IL1) gene family members with ankylosing spondylitis (AS), previously reported in Europid subjects, in an ethnically remote population., Methods: 200 Taiwanese Chinese AS patients and 200 ethnically matched healthy controls were genotyped for five single nucleotide polymorphisms (SNPs) and the IL1RN.VNTR, markers previously associated with AS. Allele, genotype, and haplotype frequencies were compared between cases and controls., Results: Association of alleles and genotypes of the markers IL1F10.3, IL1RN.4, and IL1RN.VNTR was observed with AS (p<0.05). Haplotypes of pairs of these markers and of the markers IL1RN.6/1 and IL1RN.6/2 were also significantly associated with AS. The strongest associations observed were with the marker IL1RN.4, and with the two-marker haplotype IL1RN.4-IL1RN.VNTR (both p = 0.004). Strong linkage disequilibrium was observed between all marker pairs except those involving IL1B-511 (D' 0.4 to 0.9, p<0.01)., Conclusions: The IL1 gene cluster is associated with AS in Taiwanese Chinese. This finding provides strong statistical support that the previously observed association of this gene cluster with AS is a true positive finding. These authors contributed equally to the study.

In order to understand the impact of the massive earthquake on disease activity, 60 patients with systemic lupus erythematosus (SLE) living in the earthquake area (group 1) and 31 patients living away from the area (group 2) were enrolled in this study. A questionnaire was used to record demographic data and clinical manifestations before and 6 months after the earthquake. Laboratory tests, including serum C3, C4, creatinine, anti-DNA antibody, CBC and 24 h urine protein were taken. The results showed that nine patients in group 1 had obvious disease flare-up as evidenced by fever, arthralgia, malar rash and photosensitivity, increased protein loss or edema, and other symptoms. However, there were no significant changes in either group 1 or 2 patients. In contrast, the comparison of laboratory parameters in group 1 patients before and after the earthquake showed a significant decrease of C4 from 17.3 +/- 15.3 to 14.1 +/- 7.33 and a significant increase of creatinine from 1.20 +/- 1.54 to 1.27 +/- 1.70 (P < 0.05), respectively. No significant difference for either C4 or creatinine was found in group 2 patients. In conclusion, there was no striking change in the clinical aspects for lupus patients. However, some laboratory results became abnormal in group 1 patients after the earthquake, indicating that their lupus status may have worsened.

An epidemiologic study to determine lipids and biochemical traits was performed in central Taiwan aborigines with and without gout and in the local Han Chinese. The lipid profile included measurement of serum triglyceride, cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein A-I (apoA-I), and apoB. The results showed no significant difference for body mass index (BMI) and cholesterol between the three groups. Greater alcohol consumption was found in aborigines with gout compared with the other two groups. With univariate analysis, serum triglyceride, uric acid, creatinine, LDL-C, and apoB were significantly higher in aborigines with gout versus aborigines without gout or Han people (P<.001). By contrast, HDL-C and apoA-I were significantly lower in aborigines with gout (P<.001 or .01). However, with multivariate analysis, only serum triglyceride, uric acid, and apoB-1 were significantly different between aborigines with versus without gout. In conclusion, the apparent lipid abnormalities, particularly triglyceride and apoB, in Taiwan aborigines with gout are unlikely secondary to obesity. Instead, excessive alcohol intake or genetic factors may play a role in inducing hyperlipidemia in gout.

To determine the prevalence of hyperuricaemia, gout and gout-related factors in Central Taiwan Atayal aborigines, 342 subjects over 18 yr old were interviewed and examined. A questionnaire was designed to screen for signs and symptoms of gout and gout-related risk factors. Serum uric acid, triglyceride and creatinine were measured in all subjects. The prevalence of hyperuricaemia was 41.4% and that of gout 11.7% in aborigines. The uric acid level was 7.9+/-1.7 mg/dl in males and 5.7+/-1.5 in females, and differed significantly under age 70 yr (P < 0.001). Significantly increased triglyceride, creatinine and alcoholism was found in gouty patients compared with non-gouty patients. In 40 cases with gout, 54% had tophi and 35% of their first-degree relatives had gout. The high prevalence of hyperuricaemia and gout in Taiwan Atayal aborigines, a significant family predisposition, increased creatinine level and alcoholism suggest multiple factors affecting the hyperuricaemia.

Three members of a Taiwanese kindred developed severe, systemic, early onset (< age 25 years), biopsy-proven amyloidosis. Clinical features included upper and lower extremity sensorimotor neuropathy, abdominal pain, vomiting, corneal ulcerations, cardiomyopathy, and syncope. Immunohistochemical analysis indicated that the deposits consisted of transthyretin. Molecular genetic studies revealed a heterozygous codon 55 point mutation, resulting in a proline for leucine-substitution, a mutation previously associated with aggressive familial amyloidosis in a US kindred of Dutch and German descent. The clinical courses and echocardiographic findings are typical for many types of amyloidosis; the pathologic data and genetic studies were necessary to establish a precise diagnosis.

Objective: To study the association between the occurrence of peripheral arthritis and of acute anterior uveitis during the course of ankylosing spondylitis (AS)., Methods: Retrospective clinical follow up by both chart review and direct patient interview was performed on 271 individuals comprised of 222 local white and 49 Taiwanese individuals with AS., Results: Of 89 white patients with acute anterior uveitis, 36 (40.4%) also had peripheral arthritis, compared with only 33 (24.8%) having peripheral arthritis among the 133 who did not have acute anterior uveitis (p < 0.02). Thirty seven (78.7%) of 49 Taiwanese individuals with AS had peripheral arthritis and these included all 10 patients with acute anterior uveitis from the entire disease cohort (p < 0.05)., Conclusions: This cross-sectional survey of AS patients supports the view that patients who develop peripheral arthritis are also more likely to develop acute anterior uveitis.

Objective: To determine the prevalence of symptomatic rheumatic disease in rural, urban and suburban areas of Taiwan by a 2-staged population survey., Methods: Nine thousand subjects over 20 years old were sampled proportional to age and sex for the area from 3 administrative areas in Taiwan. A pretested questionnaire to screen for potential rheumatic disorders and/or disability was administered in the communities by health workers. Subjects who screened positive were examined by a rheumatologist who assigned a final diagnosis based on established criteria., Results: A total of 8998 persons over age 20 residing in Hen-San (rural area), Sien-Dien (suburban), and Cu-Tien (urban) were studied. Twenty-five percent (2272) of the population indicated rheumatic problems: 1124 of 2271 were evaluated by a rheumatologist with serological and radiological testing. The response rates were 49.7% in Hen-San, 50.7% in Sien-Dien and 48.5% on Cu-Tien. After age and sex adjustment, the prevalence of rheumatic symptoms in Hen-San, Sien-Dien, and Cu-Tien was 24.3, 18.4 and 26.3% respectively. It was significantly higher in rural Hen-San and urban Cu-Tien than in Sien-Dien. The prevalence of rheumatoid arthritis (RA) in Hen-San, Sien-Dien, and Cu-Tien was 0.26, 0.78, and 0.93%, osteoarthritis (OA) was 6.3, 5.8, 5.1%, ankylosing spondylitis (AS) was 0.54, 0.19, 0.4%, gout was 0.16, 0.67, 0.67%, respectively. The prevalence of RA in Sien-Dien and Cu-Tien was significantly higher than in Hen-San (p < 0.05) but were not statistically different for OA, AS and gout among those 3 sites. Only one case of systemic lupus erythematosus (SLE) was found in urban Cu-Tien for a prevalence of 0.033%., Conclusion: Our results suggest that the prevalence of RA and AS is similar to that reported in Caucasians. We could not confirm anecdotal reports that SLE was common or that it is more common than RA in people of Chinese ancestry. The prevalence of OA of the hip is comparatively uncommon in our population. The difference in prevalence of rheumatism, RA, OA and gout in these areas suggests areas of further study.

Several recent reports have suggested that systemic lupus erythematosus (SLE) may be more common in Chinese than in other populations. We have revised a validated questionnaire devised by Liang, et al, for use in Chinese and surveyed 1,836 people in a community survey and 2,000 students at a girls college in Taipei, Taiwan. This constitutes the largest population yet surveyed with this technique. Only 1 case of probable SLE was identified. Since many apparent normals gave the 3 positive responses suggested to require ANA screening, continued effort should be directed toward increasing survey specificity before the massive population surveys needed to calculate accurate prevalence.

We describe 2 patients with immunoglobulin A (IgA) nephropathy in association with ankylosing spondylitis. Renal biopsy demonstrated mesangial proliferative glomerulonephritis with prominent IgA, C3c, and less intense properdin deposition in the glomeruli. Intraglomerular clumps of virus-like particles were also observed in the kidney sample from one patient (case 2), who had an abnormal liver function. Our findings support the hypothesis that here is a possible common pathogenesis responsible for the concurrence of both IgA nephropathy and ankylosing spondylitis.