C.-Y. Li

Association between FOXP3 polymorphisms and vitiligo in a Han Chinese population

Vitiligo is an autoimmune chronic depigmentation disorder caused by melanocyte loss. Previous studies found that CD4+CD25+ regulatory T‐cell (Treg) dysfunction was involved in the pathogenesis of vitiligo and that gene polymorphisms in forkhead box P3 (FOXP3) – a master regulator of Treg development and function – were associated with susceptibility to some autoimmune disorders. Therefore, we hypothesized that functional polymorphisms of the FOXP3 gene might be associated with vitiligo via dysregulation of Treg cells.

The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo

Summary Backgroundu2002 Vitiligo is an acquired depigmentation autoimmune disorder that has been described as being associated with lower levels of 25‐hydroxyvitamin D [25(OH)D]. Genetic variations within the vitamin D receptor (VDR) gene could lead to significant receptor dysfunction, and could further affect the formation of the biologically active 25(OH)D. Therefore, we hypothesized that VDR polymorphisms might be involved in vitiligo by affecting the formation of 25(OH)D.

Association study of NFKB1 and SUMO4 polymorphisms in Chinese patients with psoriasis vulgaris

Nuclear factor kappa-beta (NF-κB) is a critical transcription factor modulating the expression of many genes involved in the pathogenesis of psoriasis. SUMO4 is a negative regulator of NF-κB in the cell-signaling pathway. Two functional polymorphisms of the NFKB1 and SUMO4 genes have been found to be associated with the risks of some autoimmune-related diseases, but no published study has investigated the role of these polymorphisms in the etiology of psoriasis in the Chinese population. In this hospital-based, case–control study of 519 Chinese psoriasis vulgaris patients and 541 matched controls, we genotyped the NFKB1-94 ins/delATTG and the SUMO4 rs237025 A>G polymorphisms and assessed their respective associations with psoriasis vulgaris risk. We found that the genotype distribution of NFKB1-94 ins/delATTG polymorphism was statistically different between psoriasis patients and controls (Pxa0=xa00.031). But the difference was not still statistically significant after correction for multiple comparisons. The frequency of wild WW genotype in psoriasis patients was statistically higher than that in controls (35.8 vs. 29.0%, respectively, Pxa0=xa00.021). The W allele frequency in cases was also significantly higher than that in controls (59.7 vs. 54.1%, Pxa0=xa00.008). Compared with the DD genotype, a significantly increased psoriasis risk was associated with the NFKB1 WW genotype (adjusted ORxa0=xa01.57, 95% CIxa0=xa01.10–2.24). In addition, the WW genotype frequency was also statistically higher in the psoriatic subgroups of onset age ≤40, PASI >20, male patients and sporadic patients than that in controls. But, no associations of the SUMO4 rs237025 A>G polymorphism with the susceptibility of psoriasis were detected. In conclusion, we found a marginal association between the NFKB1-94 ins/delATTG WW genotype and the increased psoriasis vulgaris risk and the association was more evident in the subgroups of onset age ≤40, PASI >20, male patients and sporadic patients in Chinese.

The association of functional polymorphisms in the aryl hydrocarbon receptor (AHR) gene with the risk of vitiligo in Han Chinese populations.

Backgroundu2002 Vitiligo is an acquired depigmentation disorder resulting from selective destruction of melanocytes. The aryl hydrocarbon receptor (AHR) is vital to the regulation of melanogenesis and melanocyte proliferation and differentiation through modulating the expressions of melanogenesis‐related genes. AHR mutations may negatively affect AHR proteins and its target genes. Therefore, we hypothesized that AHR polymorphisms might be involved in vitiligo by impacting the transcriptional activities of related genes as mentioned above.

The effect of antisense tyrosinase-related protein 1 on melanocytes and malignant melanoma cells.

Backgroundu2003 Tyrosinase‐related proteins (TRPs) include tyrosinase, TRP‐1 and TRP‐2. The functions of tyrosinase and TRP‐2 have been determined, but the biological role of TRP‐1 is still controversial and is not well known in humans.

Dyschromatosis universalis hereditaria: two cases in a Chinese family.

Two cases of dyschromatosis universalis hereditaria (DUH) from a Chinese family are presented. Case 1 was a 62‐year‐old woman who had a generalized and progressive hyper‐ and hypopigmentation of the skin from the age of 8u2003years. Her brother had also developed a similar skin pigmentary defect from about the same age. Histopathological and ultrastructural examination of lesional skin showed increased melanin content in epidermal keratinocytes but no changes in the appearance or number of melanocytes. Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the pathogenesis of DUH remains unclear.

Fatal bacteria granuloma after trauma: a new entity

Summary In the past 20u2003years, more than 20 cases of a type of granulomatous disease have been noticed by dermatologists in different areas of China. The patients had these features in common: (i) the lesions followed a slight trauma to the face; (ii) they were spreading dark‐red plaques without pus or ulceration; (iii) new lesions appeared near to or far from the original lesion; (iv) histopathology showed histiocytic granuloma; (v) the patients had severe headache and clouding of consciousness during the later stages of the disease; (vi) all patients died within 1·5–4u2003years; (vii) treatment with prednisone led to some healing of the lesions but accelerated death; and (viii) all patients were from rural areas. We examined the tissues from two similar patients by electron microscopy and identified two kinds of bacteria as a possible cause of the disease. One was an anaerobic actinomycete, the other was Staphylococcus capitis. The anaerobic actinomycete was sensitive to lincomycin (a forerunner of clindamycin). After a 5‐month therapy with lincomycin, one patient survived. We infer that the cause of death is the unknown anaerobic actinomycete. Because the disease is very severe, we suggest the name ‘fatal bacteria granuloma after trauma’ to draw attention.

Genetic polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and risk of vitiligo in Han Chinese populations: a genotype–phenotype correlation study

Recent evidence has revealed an elevation of total homocysteine (tHcy) in patients with vitiligo. Methylenetetrahydrofolate reductase (MTHFR) is one of the main enzymes regulating homocysteine (Hcy) metabolism. Thus, polymorphisms of MTHFR could potentially contribute to the development of vitiligo by affecting MTHFR activity and tHcy levels.

Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.

Inherited epidermodysplasia verruciformis (EV) is a rare skin disorder characterized by susceptibility to specific types of human papilloma virus (HPV) and is strongly associated with skin carcinomas. Inactivating mutations in EVER1/EVER2 account for most cases of EV. However, more phenotypes related to but distinct from EV have been reported with an immunodeficiency state but without EVER1/EVER2 mutation, and the genetic basis for these atypical EV cases is poorly understood.

Functional polymorphisms of the FAS/FASLG genes are associated with risk of alopecia areata in a Chinese population: a case–control analysis

Backgroundu2002 The Fas/Fas ligand system plays a key role in regulating cell growth and apoptosis. Previous findings have suggested that FAS and FASLG polymorphisms are associated with systemic lupus erythematosus, autoimmune hepatitis, vitiligo and other autoimmune‐related disorders. However, to the best of our knowledge, there is no reported study on the associations between FAS and FASLG polymorphisms and the risk of alopecia areata.