Hu Xue, Ding Wei, Jin Xinye, Wang Jia, Zou Dajin, Chen Yue
Department of Endocrinology, Shidong Hospital, Yangpu District, Shanghai, China.
Department of Geriatrics, Shanghai General Hospital, Shanghai Jiaotong University, Shanghai, China.
Postepy Dermatol Alergol. 2018 Feb;35(1):33-38. doi: 10.5114/ada.2018.73162. Epub 2018 Feb 20.
Several studies have reported that the V89L and TA repeat polymorphisms [(TA)n] of the SRD5A2 gene were associated with SRD5A2 activity. The activity of dihydrotestosterone, which is converted from testosterone by SRD5A2, is responsible for sebum secretion and the formation of acne. We hypothesized that abnormalities in SRD5A2 action could contribute to the formation of acne.
To study whether the structural change of the SRD5A2 gene may affect the risk of acne in patients with normal serum testosterone levels.
Genotyping of rs523349 and (TA)n of SRD5A2 was performed in 49 Chinese acne patients with significant improvements with SRD5A2 inhibitor-finasteride but normal serum testosterone levels, and in 50 healthy Chinese age-matched controls without acne.
There was no significant difference between the two groups in the frequencies of V and L alleles and VV, VL, and LL genotypes of V89L (χ test, > 0.5). (TA)n polymorphic repeat sites are 5 alleles (TA0, TA3, TA6, TA9, TA12) in our population. The differences in S and L allele frequencies between the two groups were statistically significant ( < 0.005). People with a longer ( ≥ 6) allele of the (TA)n repeat polymorphism had a higher risk of having acne than those with a shorter ( < 6) allele (OR = 3.52, 95% CI: 1.73-7.16).
This study suggests that SRD5A2 polymorphisms might be associated with acne risk. This is the first report focusing on the Chinese population according to our knowledge. Further large sample studies may be required to confirm the association and to assess any interactions with environmental factors.
多项研究报告称，SRD5A2基因的V89L和TA重复多态性[（TA）n]与SRD5A2活性相关。由SRD5A2将睾酮转化而来的双氢睾酮的活性，负责皮脂分泌和痤疮的形成。我们推测SRD5A2作用异常可能导致痤疮的形成。
研究SRD5A2基因的结构变化是否会影响血清睾酮水平正常的患者患痤疮的风险。
对49例使用SRD5A2抑制剂非那雄胺后有显著改善但血清睾酮水平正常的中国痤疮患者，以及50例年龄匹配、无痤疮的健康中国对照者进行SRD5A2的rs523349和（TA）n基因分型。
两组在V89L的V和L等位基因频率以及VV、VL和LL基因型频率上无显著差异（χ检验，P>0.5）。在我们的人群中，（TA）n多态性重复位点有5个等位基因（TA0、TA3、TA6、TA9、TA12）。两组之间S和L等位基因频率的差异具有统计学意义（P<0.005）。（TA）n重复多态性中具有较长（≥6）等位基因的人患痤疮的风险高于具有较短（<6）等位基因的人（OR=3.52，95%CI：1.73-7.16）。
本研究表明，SRD5A2多态性可能与痤疮风险相关。据我们所知，这是第一份针对中国人群的报告。可能需要进一步的大样本研究来证实这种关联，并评估与环境因素的任何相互作用。
