Background: Although many arguments have been raised on the role of heredity in the etiology of acne, the relevant genetic elements in the pathogenesis of the disease are not well established. Objective: The aim of our study was to evaluate the association between a genetic polymorphism in the promoter region of the CYP17 gene and the development of acne. Methods: 206 acne patients and 200 controls were included in the study. A polymerase chain reaction (PCR) sequencing technique was used to reveal a CYP17 gene polymorphism in its promoter region. A χ² test was used for data analysis. Results: CYP17 –34T/C polymorphism was found and the frequency distribution of the C/C homozygotes and C allele in the male patients with severe acne (33.3 and 60.9%, respectively) were statistically significantly different from those of the control samples (18.2 and 46.6%; p < 0.05). No significant difference was observed between the female patients, mild + moderate male patients and their controls, respectively. Conclusion: The CYP17 –34C/C homozygote Chinese men are at a significantly increased risk of developing severe acne.

Background: The modulatory domain of the human androgen receptor (AR) gene contains a polymorphic CAG repeat coding for a polyglutamine tract which is inversely correlated with transcriptional activity of the AR. Androgens acting through the AR play a crucial role in the pathogenesis of acne vulgaris. We therefore investigated the relationship between CAG repeat polymorphism in the AR gene and acne susceptibility. Methods: 206 acne patients and 200 controls participated in the study. Genomic DNA was extracted from peripheral blood lymphocytes of individual patients, and the CAG repeat region was amplified by polymerase chain reaction (PCR) using fluorescence-labeled primers. Samples were then run on an ABI 377 gene scan analysis gel with an internal molecular-weight marker. Ten male samples were chosen randomly for sequencing to confirm the number of CAG repeats. The 2-sample independent t test was used to analyze the data. Results: The mean number of the CAG repeat in the AR was 22.07 (14–28) in the controls and 20.61 (13–26) in the male acne group. There was a significant correlation between the CAG repeat length and male acne. No significant difference was observed between female patients and their controls. Conclusion: The results suggest that the AR gene CAG repeat polymorphism may be one of the candidate genetic markers for male acne susceptibility in the Han population.

Acne vulgaris is a very common skin disorder. Previous studies have indicated that genetic background factors play key roles in the onset of acne. Our previous investigation implicated several genes in the androgen metabolism pathway with acne vulgaris in the Han Chinese population. Thus, we further investigated genes and genetic variants that play important roles in this pathway for their relationship with the pathology of acne. In this study, a total of 610 subjects, including 403 acne patients and 207 healthy controls, were genotyped for 15 single-nucleotide polymorphisms in HSD3B1 and HSD17B3 genes. This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. The GG genotype was associated with an increased risk of acne vulgaris (p < 0.05) and G allele carriers were associated with an increased risk of acne vulgaris (p < 0.05). In addition, the haplotype AAT in HSD3B1 significantly increased the risk of acne vulgaris in the case-control study (p < 0.05). Furthermore, for another gene in this pathway, HSD17B3, the haplotype H8 was significantly associated with an increased risk of acne vulgaris. Based on these analyses, our study indicates that the cutaneous androgen metabolism-regulated genes HSD3B1 and HSD17B3 increase the susceptibility to acne vulgaris in Han Chinese from Southwest China.

Background Steroid‐induced osteonecrosis of the femoral head (ONFH) is a debilitating disease characterized by the activation and infiltration of macrophages into the necrotic site. Interleukin‐4 ( IL‐4 ) administration helped reduce the infiltration of M1 phenotypic macrophages and maintain the activation of M2 phenotypic macrophages, resulting in restriction of inflammation and decrease in osteocyte apoptosis. The aim of this study was to investigate the associations of polymorphisms of IL‐4 gene with steroid‐induced ONFH in Chinese patients. Materials and methods A total of 286 steroid‐induced ONFH patients and 441 healthy controls were enrolled. We evaluated 6 single nucleotide polymorphisms of the IL‐4 gene in this case–control study. Results We identified rs2243283 in the IL‐4 gene was potentially associated with an increased risk of steroid‐induced ONFH in the dominant model ( p = 0.034; odds ratio [OR]: 1.40; 95% confidence intervals [CI]: 1.03–1.91) and in the log‐additive model ( p = 0.04; OR: 1.31; 95% CI: 1.01–1.71) adjusted by age and gender. Furthermore, we also observed a protective effect of rs2243289 in the dominant model ( p = 0.024; OR: 0.70; 95% CI: 0.51–0.95) adjusted by age and gender. Conclusion These findings suggested that polymorphisms of IL‐4 gene may be associated with susceptibility to steroid‐induced ONFH.