Genomewide association study of leprosy.

BACKGROUND: The narrow host range of Mycobacterium leprae and the fact that it is refractory to growth in culture has limited research on and the biologic understanding of leprosy. Host genetic factors are thought to influence susceptibility to infection as well as disease progression. METHODS: We performed a two-stage genomewide association study by genotyping 706 patients and 1225 controls using the Human610-Quad BeadChip (Illumina). We then tested three independent replication sets for an association between the presence of leprosy and 93 single-nucleotide polymorphisms (SNPs) that were most strongly associated with the disease in the genomewide association study. Together, these replication sets comprised 3254 patients and 5955 controls. We also carried out tests of heterogeneity of the associations (or lack thereof) between these 93 SNPs and disease, stratified according to clinical subtype (multibacillary vs. paucibacillary). RESULTS: We observed a significant association (P<1.00x10(-10)) between SNPs in the genes CCDC122, C13orf31, NOD2, TNFSF15, HLA-DR, and RIPK2 and a trend toward an association (P=5.10x10(-5)) with a SNP in LRRK2. The associations between the SNPs in C13orf31, LRRK2, NOD2, and RIPK2 and multibacillary leprosy were stronger than the associations between these SNPs and paucibacillary leprosy. CONCLUSIONS: Variants of genes in the NOD2-mediated signaling pathway (which regulates the innate immune response) are associated with susceptibility to infection with M. leprae.

Topical 5-aminolevulinic acid photodynamic therapy for intra anal-rectal warts.

Background: Condylomata acuminata (CA) are a common sexually transmitted disease. The recurrence rate of condyloma acuminatum using traditional treatments is higher than that of applying photodynamic therapy, and a variety of adverse reactions after treatment. At the same time, different parts of condyloma acuminatum after treatment recurrence rate is also different, especially for intra anal-rectal warts.Objective: To evaluate whether using photodynamic therapy (PDT) can effectively reduce recurrence of condylomata acuminata for intra anal-rectal warts.Methods: After the confirmation of the diagnosis of intra anal-rectal warts, the patients were treated with PDT with 5-aminolevulinic acid hydrochloride (ALA). PDT was performed with irradiation of 18-36 J/cm2 at an irradiance of 20-40 mW/cm2 with light-emitting diode (LED) light energy, wavelength 635 nm. We used a special PDT light equipment for intra anal-rectal area warts. PDT was repeated once every week for 4 weeks.Results: After PDT, the complete clearance rate was 76.1% (35 of 46 patients). At the end of the 12 weeks followed, recurrence occurred in five cases. We recorded pain in all 46 patients and the average visual analog scale (VAS) pain score was 6.96 ± 1.41 points.Conclusion: The treatment with PDT is effective in reducing the high rate of recurrence for intra anal-rectal warts. Pain is still a great challenge for the therapy.

Low-dose topical 5-aminolevulinic acid photodynamic therapy in the treatment of different severity of acne vulgaris.

OBJECTIVES: To investigate the efficacy and safety of low-concentration 5-aminolevulinic acid photodynamic therapy (ALA-PDT) in the treatment of different severity of acne vulgaris and optimize the treatment regimen. METHODS: A self-controlled multicenter clinical trial was carried out in 15 centers throughout China. A total of 397 acne patients of grade II-IV received 3- or 4-session PDT treatment. 5% ALA gel was applied topically to acne lesions for 1h incubation. The lesions were irradiated by a LED light of 633 nm at dose levels of 96-120 J/cm(2). Clinical assessment was conducted before and after every treatment up to 8 weeks. RESULTS: The effective rate overall and of grade II, III and IV are 82.1%, 71.6%, 79.6% and 88.2%, respectively. The effective rate rises significantly proportionally to the severity of acne (P<0.01). No significant differences are found in the efficacy between patients received 3-session and 4-session PDT treatments (P>0.05). The count of inflammatory and non-inflammatory acne lesions gradually decrease after each treatment (P<0.01) and during the 8-week follow up (P<0.01 or P<0.05). Maximum efficacy is obtained at 8 weeks after the treatment completion. CONCLUSIONS: A low-dose topical ALA-PDT regimen using 5% ALA, 1h incubation and red light source of 3 treatment sessions is suggested as optimal scheme for the treatment of different severity of acne vulgaris in Chinese patients. Superior efficacy is found in severe cystic acne of grade IV with mild side effects.

Association of the HLA-DRB1 locus with syphilis in a Chinese population.

BACKGROUND: Syphilis is a sexually transmitted infection (STI) caused by the Treponema pallidum subspecies pallidum spirochete bacterium. The association of human leukocyte antigen (HLA) with syphilis has been reported in several populations, but not in the Chinese population. Furthermore, serology methods have mostly been used in previous studies investigating the association between STIs and HLA alleles. The objective of this study was to analyze the association of the HLA-DRB1 alleles and susceptibility to syphilis in the Chinese population. METHODS: A polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype HLA-DRB1 alleles in 196 syphilis patients and 500 healthy controls. RESULTS: The HLA-DRB1*14 allele was more prevalent in syphilis patients than in the healthy controls (p=0.013; corrected p<0.05). CONCLUSIONS: The allele HLA-DRB1*14 was found to be associated with susceptibility to syphilis in the Chinese population.