Hongyan Wang

Clinical profiles of vitiligo in China: an analysis of 3742 patients

Very few articles have aimed to illuminate the clinical profiles of vitiligo in China. We conducted this retrospective survey involving 4118 outpatients with vitiligo in order to identify the differences among various clinical types of vitiligo and their associated disorders. Completed questionnaires (3742) were validated and analysed. Of this large cohort, 1565 (41.8%) individuals presented vitiligo vulgaris, followed by focal, segmental, acrofacial, and universal, in that order. The mean age of vitiligo onset was 18.88 years. More than 60% of the patients were affected before 20 years of age. Patients with segmental vitiligo were affected earlier than those with other types of vitiligo (15.55 years; (P < 0.001). More than 74% of the patients presented with focal vitiligo at onset. After 3–5 years, 99% of active vitiligo was worse and shifted from one clinical type to another. However, there was no transformation between acrofacial vitiligo and segmental vitiligo. Compared with the general population, the patients with vitiligo were more likely to be affected by rheumatoid arthritis (P < 0.01), ichthyosis (P < 0.01), chronic urticaria (P < 0.01), or alopecia areata (P < 0.01).

Frequent use of tobacco and alcohol in Chinese psoriasis patients

Background This study aimed to explore smoking and drinking as risk factors in psoriasis.

The genetic epidemiology of psoriasis vulgaris in Chinese Han

Background The aim of this study was to explore the effects of genetic factors on the onset of psoriasis vulgaris and to develop a possible genetic model of psoriasis in Chinese Han.

Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans

BACKGROUND Predisposing genetic factors in psoriasis include associations with human leukocyte antigen (HLA). Accumulative evidence has shown that certain HLA at class I locus, especially HLA-Cw6, are associated closely with psoriasis. OBJECTIVE To evaluate the association of HLA class I alleles with susceptibility to psoriasis in the southeastern Chinese Han population. METHODS We performed genotype for HLA-A, -B and -C loci in 166 patients with psoriasis vulgaris by means of polymerase chain reaction with sequence-specific primers technique. The distribution of HLA allelic frequencies was further analyzed according to age of onset, i.e. under 35-y and beyond 35-y groups. These data were compared with the healthy controls of 204 unrelated Hans. RESULTS The frequencies of HLA-A*26 (24.7% vs. 13.1%, OR=2.36, Pc<0.01), -B*13 (27.2% vs. 14.8%, OR=2.34, Pc<0.01), -B*27 (12.2% vs. 4.0%, OR=3.49, Pc<0.01) and -Cw*0602 (17.9% vs. 5.3%, OR=4.20, Pc<0.001) were significantly increased in psoriasis patients, whereas HLA-Cw*0304 frequency (4.9% vs. 13.4%, OR=0.32, Pc<0.01) was highly decreased, when compared to the controls. HLA-A*26-B*27-Cw*0602 was identified as a high-risk haplotype of HLA class I in developing psoriasis in the test. HLA-Cw*0602 was found to be strongly associated with the early-onset psoriasis (age of onset <35 y). CONCLUSION This study demonstrated the positive associations of HLA class I markers with psoriasis vulgaris, of which HLA-Cw*0602 was the strongest susceptibility determinant for development of early-onset psoriasis, in the southeastern Chinese Han population.

HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han.

Background  Psoriasis vulgaris is a chronic skin disorder characterized by infiltration of inflammatory elements, keratinocyte hyperproliferation and altered differentiation. Although the pathogenesis of psoriasis is not fully understood, there is solid evidence of a susceptibility locus in the human leukocyte antigen (HLA) region.

Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1·1-cM interval at 8p21.3

Background  Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal congenital alopecia with progressive hair loss starting in early childhood and accelerating at puberty. A locus for MUHH has been mapped on chromosome 8p21 but no genes for MUHH have been identified to date.

Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.

Haplotype associations of the major histocompatibility complex (MHC) with psoriasis vulgaris (PV) have been demonstrated in different racial or ethnic populations. The objective of this study was to demonstrate the different haplotype associations of the MHC in Chinese patients with psoriasis according to the type of onset and their sex. One hundred and thirty‐eight patients with PV and 149 normal control subjects without psoriasis were typed for HLA‐A, ‐B, ‐C, ‐DQA1, ‐DQB1 and ‐DRB1 by using the PCR with sequence‐specific primers. The results showed: (i) HLA‐A*26 (26.1% vs. 12.1%, Pc < 1 × 10−5), ‐B*27 (17.03% vs. 1.01%, Pc < 1 × 10−7), ‐Cw*0602 (15.58% vs. 5.03%, Pc < 1 × 10−2), ‐DQA1*0104 (19.93% vs. 9.40%, Pc < 1 × 10−3), ‐DQA1*0201 (22.40% vs. 10.74%, Pc < 1 × 10−3), ‐DQB1*0303 (18.12% vs. 9.73%, Pc < 1 × 10−7), and ‐DRB1*0701/02 (26.09% vs. 9.73%, Pc < 1 × 10−7) were significantly increased in PV patients, while HLA‐B*57, ‐DQB1*0201 were slightly increased in PV patients. HLA‐Cw*0304 (5.07% vs. 14.43%, Pc < 1 × 10−3), ‐DQA1*0501 (5.79% vs. 14.09%, Pc < 0.05) were found to be negatively associated with PV, but HLA‐A*2 (2.54% vs. 6.38%, Pc < 0.5) was decreased in PV patients without statistical significance. (ii) HLA‐A*26‐B*27 [P < 0.0001, odds ratio (OR) = 48.38], ‐A*26‐Cw*0602 (P < 0.0001, OR = 11.84), ‐B*27‐Cw*0602 (P < 0.0001, OR = undefined), ‐DRB1*0701/02‐B*27 (P < 0.0001, OR = 22.62), ‐DRB1*0701/02‐DQA1*0104 (P < 0.0002, OR = 3.59), ‐DRB1*0701/02‐DQB1*0303 (P < 0.0001, OR = 5.63), ‐DQA1*0201‐DQB1*0303 (P < 0.0002, OR = 7.77), ‐A*26‐B*27‐Cw*0602 (P < 0.0004, OR = undefined), ‐A*26‐DRB1*0701/02‐DQA1*0201‐DQB1*0303 (P < 0.01, OR = undefined) were identified as risk haplotypes for patients with PV in China. (iii) HLA‐A*26 ‐B*27 (P < 0.0001, OR = 58.47), ‐DQA1*0201‐DQB1*0303 (P < 0.0001, OR = 8.62), ‐DRB1*0701/02 ‐DQA1*0104 (P < 0.0002, OR = 4.13), ‐DRB1*0701/02‐DQB1*0303 (P < 0.0001, OR = 6.68) and ‐A*26‐DRB1*0701‐DQA1*0201 ‐DQB1*0303 (P < 0.006, OR = undefined) were only significantly associated with type I psoriasis compared with controls, while others showed no differences in either type I or type II psoriasis. (iv) These associated haplotypes with PV were not different by sex, except that the frequency of DRB1*0701/02‐DQB1*0303 (P < 0.0001, OR = 10.14) was higher in male patients with psoriasis. To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.

Knockdown of EIF3D suppresses proliferation of human melanoma cells through G2/M phase arrest

Skin cancer is the most common malignancy with increasing incidence rates worldwide. The advanced form of skin cancer, melanoma, is resistant to conventional treatment methods, which motivated researchers to identify an alternative effective therapeutic approach. This study was designed to identify the effects of small interfering RNA (si‐RNA) mediated silencing of eukaryotic translation initiation factor 3, subunit D (EIF3D) against melanoma cell survival. Briefly, a lentivirus‐mediated RNA interference system was employed to knock down EIF3D expression in A375 and A431 melanoma cells. The cell proliferation was analyzed by methylthiazoletetrazolium (MTT) and colony formation assays. The cell cycle progression was investigated using flow cytometry. Results revealed that si‐RNA–mediated knockdown of EIF3D significantly reduced the gene and protein expression levels of EIF3D in melanoma cells. Furthermore, knockdown of EIF3D led to a significant reduction in cell proliferation due to G2/M phase cell cycle arrest. Apparently, the study demonstrated the critical involvement of EIF3D in the survival and progression of melanoma cells and depletion of EIF3D could be developed as a possible therapeutic option in the gene‐targeted treatment of melanoma.

Variants in SELL, MRPS36P2, TP63, DDB2, CACNA1H, ADAM19, GNAI1, CDH13 and GABRG2 interact to confer risk of acne in Chinese population.

Acne vulgaris is a common skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from androgen‐induced increased sebum production, altered keratinization, inflammation and bacterial colonization of hair follicles by propionibacterium acnes. Our previous genome‐wide association study on acne has identified two new susceptibility loci. To search for potential gene–gene interactions and investigate the best‐fit association models for the single nucleotide polymorphisms (SNP) from these interacting genes, we implemented logistic regression analysis in the combined sample of 2916 cases with severe acne and 4716 controls. The most significant association evidence was observed under an additive model for rs6896064 and under a dominant model the rest of these SNP. Significant interactions between these SNP were observed in this study: the SELL × MRPS36P2 (Padjusted = 4.15 × 10−10), TP63 × DDB2 (Padjusted = 7.62 × 10−08), DDB2 × CACNA1H (Padjusted = 1.89 × 10−07), ADAM19 × GNAI1 × CDH13 (Padjusted = 1.22 × 10−04) and ADAM19 × GABRG2 × GNAI2 × CDH13 (Pad justed = 6.33 × 10−05). These results may contribute to our understanding of acne genetic etiology and account for the additional risk of certain patients.

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing. However, c.1960G>C was reported to be non‐pathogenic. Furthermore, correlations between genotypes and phenotypes of Chinese Han patients since 2014 were performed by paired χ2‐tests in our published work review, which has not been reported. The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. Genetically, they had a higher frequency of familial inheritance.