[Single nucleotide polymorphism of IL-23 receptor gene is associated with susceptibility to recurrent oral ulceration].

Objective To explore whether single nucleotide polymorphism (SNP) in interleukin-23 receptor (IL-23R) gene is associated with the susceptibility to recurrent oral ulceration (ROU). Methods The genotype of SNP rs11465817 and rs1343152 was determined by MALDI-TOF-MS in 42 ROU patients and 86 age- and sex-matched healthy controls. The genotype and allele frequencies were analyzed by Chi-square test in both groups. Odds ratio (OR) and 95% confidence interval (95%CI) were calculated to analyze the associations between the susceptibility of ROU and the genotypes. Results The rs1343152 allele and genotype frequency distribution had no significantly difference between the case group and the control group. Compared with the control group, rs11465817 allele and genotype frequency distribution in the ROU group had significant difference (OR=2.715, 95%CI=1.543-4.777). The AA+AC genotype increased the risk of ROU occurrence by 2.44 times. Conclusion IL-23R rs11465817 contributes to the risk of ROU in Chinese.

Association between interleukin gene polymorphisms and risk of recurrent oral ulceration.

We conducted a case-control study to investigate the association between the functional IL-1ß+3954 (C/T), IL-6-174 (G/C), IL-10-1082 (G/A), and IL-10-819C/T genetic polymorphisms and risk of recurrent oral ulceration (ROU) in a Chinese population. Polymorphisms of IL-1ß+3954C/T, IL-6-174G/C, IL-10-1082A/G and IL-10-819C/T were assessed by polymerase chain reaction-restriction fragment length polymorphism. The genotype distributions of the IL-1ß+3954 C/T and IL-10-819C/T were in Hardy-Weinberg equilibrium in the control group. Conditional logistic regression analyses showed that subjects carrying the IL-1ß+3954CC and IL-10-1082AA genotypes had a significantly increased risk of ROU, with adjusted ORs (95%CI) of 2.86 (1.37-6.33) and 1.72 (1.02-2.89), respectively. In summary, we found that IL-1ß+3954C/T and IL-10-1082A/G polymorphisms are associated with an increased risk of ROU.

Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.

OBJECTIVE: Systemic lupus erythematosus is a clinically heterogeneous autoimmune disease. A number of genetic loci that increase lupus susceptibility have been established. This study examines if these genetic loci also contribute to the clinical heterogeneity in lupus. MATERIALS AND METHODS: 4001 European-derived, 1547 Hispanic, 1590 African-American and 1191 Asian lupus patients were genotyped for 16 confirmed lupus susceptibility loci. Ancestry informative markers were genotyped to calculate and adjust for admixture. The association between the risk allele in each locus was determined and compared in patients with and without the various clinical manifestations included in the ACR criteria. RESULTS: Renal disorder was significantly correlated with the lupus risk allele in ITGAM (p=5.0 × 10(-6), OR 1.25, 95% CI 1.12 to 1.35) and in TNFSF4 (p=0.0013, OR 1.14, 95% CI 1.07 to 1.25). Other significant findings include the association between risk alleles in FCGR2A and malar rash (p=0.0031, OR 1.11, 95% CI 1.17 to 1.33), ITGAM and discoid rash (p=0.0020, OR 1.20, 95% CI 1.06 to 1.33), STAT4 and protection from oral ulcers (p=0.0027, OR 0.89, 95% CI 0.83 to 0.96) and IL21 and haematological disorder (p=0.0027, OR 1.13, 95% CI 1.04 to 1.22). All these associations are significant with a false discovery rate of <0.05 and pass the significance threshold using Bonferroni correction for multiple testing. CONCLUSION: Signifi cant associations were found between clinical manifestations and the FCGR2A, ITGAM, STAT4, TNSF4 and IL21 genes. The findings suggest that genetic profiling might be a useful tool to predict disease manifestations in lupus patients in the future.

Oral manifestations of HIV infection in a group of predominantly ethnic Chinese.

A total of 32 HIV-infected, predominantly ethnic Chinese individuals from Hong Kong were examined for oral mucosal lesions over a period of 1 year. The commonest oral lesion found was minor aphthous ulceration (27.4%), while xerostomia (17.8%), ulceration NOS (not otherwise specified; 12.3%), hairy leukoplakia (11.0%) and erythematous candidiasis (6.9%) were less frequent; Kaposi's sarcoma was notable for its absence. When the relationship between the number of oral lesions with age, risk group, medication taken, CDC staging and CD4+ count of the study group was investigated, a significantly higher number of oral lesions was associated with use of AZT, homosexuals and CDC stage IV; in contrast, a smaller number of lesions was found in those on antiparasitics and multivitamins (all P<0.05). When compared with studies from other parts of the world, the frequency of oral lesions appeared to be less common in the current study group. However, due to a lack of similar studies from the Asian region, especially in ethnic Chinese, it is not clear whether this difference could be attributed to racial, social or geographic factors.