Demirkan Serkan, Sayın Derya Beyza, Gündüz Özgür
Department of Dermatology and Venereology, Faculty of Medicine, Kirikkale University, Kirikkale, Turkey.
Department of Medical Genetics, Faculty of Medicine, Kirikkale University, Kirikkale, Turkey.
Postepy Dermatol Alergol. 2019 Apr;36(2):173-176. doi: 10.5114/ada.2019.84592. Epub 2019 May 14.
Acne vulgaris (AV) is a multifactorial, inflammatory disease of the pilosebaceous unit. Hormones play a major role in the pathogenesis of acne. In cases of hyperandrogenism; hirsutism, acne, seborrhoea and alopecia appear in women. However, severe acne can also be seen without evidence of hyperandrogenism. In this case, hypersensitivity of the (ARG) encoded in the X chromosome, which is the only receptor for androgens, can be considered. ARG contains a polymorphic CAG triple loop encoding the polyglutamine pathway at the 5'end of exon 1.
To investigate CAG repeat polymorphism in the ARG in nodulocystic acne patients in Turkish population.
This prospective clinical study was conducted between 2016 and 2017 in accordance with the tenets of the Declaration of Helsinki. DNA isolation from blood was performed using the RTA Genomic DNA Isolation Kit. The fragment lengths obtained from the device to determine CAG repeat numbers were analysed based on -288 bp length 22 CAG repeat content.
A total of 199 subjects; 100 patients (51 males, 49 females) and 99 controls (49 males, 50 females) were included in the study. The mean allele length in the patient group was 19.34; and 19.7 in the control group. There was a statistically significant difference between female patients and the control group, when the patients and control groups were compared by gender ( = 0.0059).
The CAG trinucleotide repeat count in the may be associated with acne, without hirsutism findings.
寻常痤疮（AV）是一种毛囊皮脂腺单位的多因素炎症性疾病。激素在痤疮的发病机制中起主要作用。在雄激素过多的情况下，女性会出现多毛、痤疮、脂溢性皮炎和脱发。然而，在没有雄激素过多证据的情况下也可见到严重痤疮。在这种情况下，可以考虑位于X染色体上的雄激素唯一受体（雄激素受体，ARG）的超敏反应。ARG在第1外显子的5'端包含一个编码聚谷氨酰胺途径的多态性CAG三联体环。
研究土耳其人群结节囊肿性痤疮患者雄激素受体（ARG）中的CAG重复多态性。
本前瞻性临床研究于2016年至2017年按照《赫尔辛基宣言》的原则进行。使用RTA基因组DNA分离试剂盒从血液中分离DNA。基于-288 bp长度的22个CAG重复序列含量，分析从用于确定CAG重复数目的仪器获得的片段长度。
本研究共纳入199名受试者，其中100例患者（51例男性，49例女性）和99名对照者（49例男性，50例女性）。患者组的平均等位基因长度为19.34；对照组为19.7。按性别对患者和对照组进行比较时，女性患者与对照组之间存在统计学显著差异（P = 0.0059）。
雄激素受体（ARG）中的CAG三核苷酸重复计数可能与无多毛表现的痤疮有关。
