Department of Dermatology, Iuliu Hațieganu University of Medicine and Pharmacy, 400006 Cluj-Napoca, Romania.
Department of Maxillofacial Surgery and Radiology, Iuliu Hațieganu University of Medicine and Pharmacy, 400326 Cluj-Napoca, Romania.
Medicina (Kaunas). 2024 Sep 14;60(9):1501. doi: 10.3390/medicina60091501.
: Polycystic ovary syndrome (PCOS) is a frequent and complex multidisciplinary disorder. Data regarding the role of genes involved in vitamin D metabolism in PCOS are as-yet elusive but suggest an association of VDR (vitamin D receptor) and vitamin D levels with metabolic, endocrine and cutaneous manifestations. The aim of this study was to evaluate the association between VDR gene polymorphisms and cutaneous manifestations, to find a correlation between hormonal parameters, oxidative stress and skin manifestations in women with PCOS, and to determine the impact of VDR gene polymorphisms on these parameters. : This case-control study included 39 controls and 46 women with PCOS, matched by age and BMI distribution. Acne, hirsutism, seborrhea, androgenetic alopecia, oxidative stress and androgen hormones were recorded. VDR gene polymorphisms ApaI, FokI and TaqI were examined by polymerase chain reaction restriction fragment length polymorphism, and the androgen hormone (total testosterone, DHEAS), SHBG and malondialdehyde levels were assessed. : The most frequent skin manifestations in PCOS cases were acne followed by seborrhea, hirsutism and androgenic alopecia. The VDR-FokI polymorphism CC genotype had a significant protective role in the odds of acne (OR = 0.11, 95% CI: [0.02, 0.70], = 0.015, p-corrected = 0.040) and seborrhea (OR = 0.15, 95% CI: [0.03, 0.75], = 0.019, p-corrected = 0.039). The results demonstrated a significant protective effect of the C allele on the odds of acne and seborrhea in PCOS cases. Moreover, the dominant genotype of VDR-TaqI could have a protective role against oxidative stress (lower MDA levels) compared to patients carrying the TT genotype. : In summary, this is the first study to demonstrate that the FokI CC genotype may have a protective role against both acne and seborrhea in women with PCOS, while the VDR-TaqI dominant genotype is associated with diminished oxidative stress in PCOS patients.
多囊卵巢综合征（PCOS）是一种常见且复杂的多学科疾病。目前，有关维生素 D 代谢相关基因在 PCOS 中的作用的数据尚不清楚，但 VDR（维生素 D 受体）和维生素 D 水平与代谢、内分泌和皮肤表现之间存在关联。本研究旨在评估 VDR 基因多态性与皮肤表现之间的关系，寻找 PCOS 患者中激素参数、氧化应激与皮肤表现之间的相关性，并确定 VDR 基因多态性对这些参数的影响。
这项病例对照研究纳入了 39 名对照和 46 名 PCOS 患者，按照年龄和 BMI 分布进行匹配。记录了痤疮、多毛症、皮脂溢、雄激素性脱发、氧化应激和雄激素激素。通过聚合酶链反应限制性片段长度多态性检测 VDR 基因多态性 ApaI、FokI 和 TaqI，评估雄激素激素（总睾酮、DHEAS）、SHBG 和丙二醛水平。
PCOS 患者最常见的皮肤表现为痤疮，其次为皮脂溢、多毛症和雄激素性脱发。VDR-FokI 多态性 CC 基因型对痤疮（OR=0.11，95%CI：[0.02，0.70]，=0.015，p-corrected=0.040）和皮脂溢（OR=0.15，95%CI：[0.03，0.75]，=0.019，p-corrected=0.039）的发生几率有显著的保护作用。结果表明，C 等位基因对 PCOS 患者痤疮和皮脂溢的发生几率有显著的保护作用。此外，与携带 TT 基因型的患者相比，VDR-TaqI 的显性基因型可能对氧化应激具有保护作用（降低 MDA 水平）。
总之，这是第一项表明 FokI CC 基因型可能对 PCOS 女性的痤疮和皮脂溢均具有保护作用的研究，而 VDR-TaqI 显性基因型与 PCOS 患者的氧化应激减轻相关。
