背景:女性型脱发(FPHL),成年女性脱发最常见的原因,分为两种亚型:早发性和晚发性(或绝经后)。关于早发性女性型脱发(eFPHL)的临床特征和遗传特征知之甚少。
目的:探讨eFPHL的临床特点和遗传特点。
方法:前瞻性招募eFPHL患者和无eFPHL的对照组。收集人口统计学和临床特征。评估了位于选定的30个可能与eFPHL相关的候选基因周围的单核苷酸多态性(SNP)。
结果:eFPHL患者(n=63)与对照组(n=341)相比,毛干密度和毛干横截面积降低。eFPHL与雄激素相关特征相关,包括头皮油腻,毛囊炎,多毛症,多囊卵巢综合征.据报道,eFPHL患者的头皮疼痛和瘙痒频率更高。位于PPARGC1A周围的49个SNP,ABCC4,CYP11B2,FSHB,发现CYP19A1对eFPHL有重要意义,包括两个PPARGC1A相关的SNP:rs186530605和rs192713767(p=3.94×10-11)。
结论:这项研究提供了eFPHL的临床特征和遗传变异,这可以提供对潜在病理病因的见解。考虑到患者数量有限,未来需要进行大规模的研究。
BACKGROUND: Female pattern hair loss (FPHL), the most common cause of alopecia in adult women, is classified into two subtypes: early onset and late onset (or postmenopausal). Little is known about the clinical features and genetic characteristics of early onset female pattern hair loss (eFPHL).
OBJECTIVE: To investigate the clinical features and genetic characteristics of eFPHL.
METHODS: Patients with eFPHL and controls without eFPHL were prospectively recruited. The demographic and clinical features were collected. Single nucleotide polymorphisms (SNPs) located around the selected 30 candidate genes potentially associated with eFPHL were evaluated.
RESULTS: eFPHL patients (n = 63) manifested a decreased hair shaft density and cross-sectional area of the hair shaft compared to the control group (n = 341). eFPHL is associated with androgen-related features, including scalp greasiness, folliculitis, hirsutism, and polycystic ovary syndrome. Scalp pain and itching have been reported more frequently in patients with eFPHL. Forty-nine SNPs located around PPARGC1A, ABCC4, CYP11B2, FSHB, and CYP19A1 were found to be significant for eFPHL, including two PPARGC1A-associated SNPs: rs186530605 and rs192713767 (p = 3.94 × 10-11).
CONCLUSIONS: This study provided clinical features and genetic variants for eFPHL, which could provide insight into the underlying pathologic etiology. Considering the limited number of patients, a large-scale study is required in the future.