A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese

Systemic lupus erythematosus (SLE) is an autoimmune disease that causes multiple organ damage. Although recent genome-wide association studies (GWAS) have contributed to discovery of SLE susceptibility genes, few studies has been performed in Asian populations. Here, we report a GWAS for SLE examining 891 SLE cases and 3,384 controls and multi-stage replication studies examining 1,387 SLE cases and 28,564 controls in Japanese subjects. Considering that expression quantitative trait loci (eQTLs) have been implicated in genetic risks for autoimmune diseases, we integrated an eQTL study into the results of the GWAS. We observed enrichments of cis-eQTL positive loci among the known SLE susceptibility loci (30.8%) compared to the genome-wide SNPs (6.9%). In addition, we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with SLE susceptibility (rs340630; P = 8.3×10−9, odds ratio = 1.21). The risk A allele of rs340630 demonstrated a cis-eQTL effect on the AFF1 transcript with enhanced expression levels (P<0.05). As AFF1 transcripts were prominently expressed in CD4+ and CD19+ peripheral blood lymphocytes, up-regulation of AFF1 may cause the abnormality in these lymphocytes, leading to disease onset

Twenty cases of allergic contact dermatitis due to benzoyl peroxide in acne patients in Japan

Abstract Background Benzoyl peroxide is a topical antiacne drug, which also acts as a strong irritant and a weak allergen. Only a few acne patients with allergic contact dermatitis due to benzoyl peroxide gel have been diagnosed by patch testing in Japan. Therefore, the number of such patients is probably underestimated. Objectives To correctly diagnose such cases by patch testing and to determine their characteristics and frequency. Patients and methods Twenty acne patients that were diagnosed with allergic contact dermatitis between April 2015 and April 2018 were enrolled in this study. Patch tests were performed with acne gels containing benzoyl peroxide and 1% benzoyl peroxide in petrolatum. The patients' profiles and the frequency of dermatitis were analyzed. Results All of the patients were female, and their mean age was 24.1 ± 9.3 years. Two patients were suffering from atopic dermatitis. The onset of allergic contact dermatitis occurred at 1 to 2 days, 9 to 28 days, and >30 days (longest: up to 24 months) after the initial application of the causative substance in 3 patients, 9 patients, and 8 patients, respectively. The frequency of such cases was 4.5% at our clinic. Conclusions Benzoyl peroxide gels for acne were demonstrated to often act as allergic contact allergens, and thus, dermatologists should be aware of their allergenicity and be apprehensive about markedly increasing the use of such gels in the future