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To date, genome‐wide association studies (GWASs) have discovered 35 susceptible loci of leprosy; however, the cumulative effects of these loci can only partially explain the overall risk of leprosy, and the causal variants and genes within these loci remain unknown. Here, we conducted out new GWASs in two independent cohorts of 5007 cases and 4579 controls and then a meta‐analysis in these newly generated and multiple previously published (2277 cases and 3159 controls) datasets were performed. Three novel and 15 previously reported risk loci were identified from these datasets, increasing the known leprosy risk loci of explained genetic heritability from 23.0 to 38.5%. A comprehensive fine‐mapping analysis was conducted, and 19 causal variants and 14 causal genes were identified. Specifically, manual checking of epigenomic information from the Epimap database revealed that the causal variants were mainly located within the immune‐relevant or immune‐specific regulatory elements. Furthermore, by using gene‐set, tissue, and cell‐type enrichment analyses, we highlighted the key roles of immune‐related tissues and cells and implicated the PD‐1 signaling pathways in the pathogenetic mechanism of leprosy. Collectively, our study identified candidate causal variants and elucidated the potential regulatory and coding mechanisms for genes associated with leprosy. [ABSTRACT FROM AUTHOR]

Epidermolysis bullosa simplex, characterized by mechanical fragility and blistering within the basal layer of the epidermis, is a rare inherited skin disorder with a prevalence of about 1 in 25 000-50 000.[1] Mutations in several genes, including I KRT5 i , I KRT14 i , I PLEC i , I DSP i , I JUP i , I EXPH5, TGM5 i and I DST i , have been reported.[2] Among them, the mutations in I KRT5 i and I KRT14 i account for 75% of cases.[3] To date, a total of 143 and 112 I KRT5 i and I KRT14 i mutations have been reported, respectively (http://www.interfil.org). The basis for the disease likely involves protein-protein interactions between the two genes and their associated expression.[8] To date, five patients with digenic inheritance of epidermolysis bullosa simplex with I KRT5 i and I KRT14 i mutations have been reported. Among them, the probands' phenotypes in two families were more severe when compared to their affected parents carrying one single mutation in I KRT5 i or I KRT14 i .[[4]] The phenotypes and genetic mutations of reported cases are summarized in Table. [Extracted from the article]

The biological connections between psoriasis and diabetes have been suggested by epidemiological, immunological and genetic studies. To identify additional shared susceptibility loci and investigate shared pathogenesis between these two diseases, we genotyped 89 reported diabetes susceptibility loci in 4456 psoriasis cases and 6027 controls of Chinese population using the Mass ARRAY system from Sequenom. We discovered three significant associations at rs6679677 on 1p13.2 ( P=6.15×10−5, OR=5.07), rs16861329 on 3q27.3 ( P=2.02×10−4, OR=0.87) and rs849135 on 7p15.1 ( P=6.59×10−9, OR=1.78), which suggested PTPN22, ST6 GAL1 and JAZF1 as novel susceptibility genes for psoriasis in Chinese population. Our findings implicated the involvement of T-cell receptor signalling pathway in the pathogenesis of psoriasis and further confirmed the shared genetic susceptibility between psoriasis and diabetes. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 46-year-old Chinese woman who suffers from slightly painful and pale blue nodes on her forearm for 30 years, on her face and scalp for 10 years and her 25-year-old nephew has similar lesion on the face. The patients were diagnosed with Brooke-Spiegler syndrome (BSS) and trichoepithelioma, respectively. Mutations in the CYLD gene were considered as the cause of the syndrome.

The article focuses on a study which examines novel mutations of tuberous sclerosis complex 1 (TSC1) gene in Chinese patients with TSC. The researchers identified one SNP and one missense polymorphism in the study participants. Study results are considers useful in genetic counseling and in prenatal diagnosis of affected families.

The article presents a study on the mutations of the ATP2A2 gene in Chinese patients with Darier disease. Topics discussed include information on the Darier disease as a rare autosomal dominant genodermatosis with almost complete penetrance, characterized by abnormal keratinization and acantholysis; discussions on the clinical manifestations include multiple dark-brown keratotic plaques and warty papules covered by thick crusts particularly in seborrheic areas.