Association of <b><i>HSD17B3</i></b> and <b><i>HSD3B1</i></b> Polymorphisms with Acne Vulgaris in Southwestern Han Chinese

Abstract

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.

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes ofHSD3B2c.35G>A Homozygotes

“…Although not a perfect marker for control of HSD3B2 deficiency, DHEA appears closely linked to disease morbidity and highlights the clinical relevance of "intracrine" tissue dynamics (4,33). In HSD3B2 c.35GϾA homozygotes, we found evidence that DHEA produced by the adrenal glands is converted to estradiol and more potent androgens via HSD3B1 action in extraadrenal/extragonadal tissues such as skin (34). Excess estradiol produced in this way likely contributes to age-or sex-inappropriate breast tissue development and accelerated bone maturation in both females and males (35).…”

Genetic architecture of acne vulgaris

“…Moreover, their enzyme activity has been noted mainly in facial acne-prone areas. 125 In a study with Han Chinese subjects, 124 among the 18 tested SNPs in HSD3B1 and HSD17B3, only the GG genotype and G allele carriers of rs6428829 (HSD3B1) were associated with an increased risk of acne vulgaris (Table 9). Haplotypes, reconstructed by SNPs of HSD3B1 and HSD17B3, showed in two cases a significant association with acne (AAT haplotype of HSD3B1 and H8 haplotype of HSD17B3).…”

Step

“…The AES system has been chosen as a case study, as also used in [10,17], since it is widely used in various critical cryptographic applications in finance, banking, security, etc. In the following, secure test and IP core protection architectures of an AES system, generated by proposed STEP design methodology, are presented in details.…”

“…However, since these scan chains directly reveal the internal state of the logic blocks and their circuits, extracting design information from them becomes easier for design pirates or hackers through response analysis or side channel attack during testing [9]. Hence, secure testing is a critical requirement for DfT [10,11].…”