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Genetic and environmental factors affecting hair density in East Asian populations
论文作者 Qian, QL; Gu, YP; Luo, JY; Wu, SJ; Li, JP; Li, JX; Peng, QQ; Chen, WY; Yang, YJ; Wang, JC; Jin, L; Sun, RL; Zhang, GQ; Liu, F; Wang, SJ
期刊/会议名称 BRITISH JOURNAL OF DERMATOLOGY
论文年度 2025
论文类别
摘要 Background Hair density traits, including follicular unit density (FUD) and hairs per follicular unit (HFU), are influenced by environmental and genetic factors. Understanding these determinants can refine our knowledge of hair growth patterns and enable more targeted interventions. Historically, large-scale research has been constrained by difficulties in precise phenotyping.Objectives To identify environmental and genetic factors associated with hair density in East Asian populations and to explore shared genetic influences among other hair traits and hair disorders.Methods We performed quantitative assessments of FUD and HFU using trichoscopic images from 5735 East Asian individuals. Accurate phenotyping was achieved through deep learning-based analyses with manual correction. We used multiple regression to evaluate demographic, lifestyle and reproductive factors, and conducted genome-wide association studies (GWAS), meta-analysis and a combined GWAS (C-GWAS) for hair density, hair curliness, eyebrow thickness and beard thickness. Significant associations were compared with published results on male pattern baldness (MPB). Gene-finasteride use interactions were evaluated via mixed linear models in longitudinal UK Biobank data.Results Age, sex, body mass index and menopausal status were significantly associated with FUD and HFU. Three genetic loci, rs11940736 at 4q28.1 (near SPRY1), rs10908366 at 1p34.3 (near RSPO1) and rs3771033 at 2q23.3 (intron NRP2), showed significant associations with hair density, with functional annotations implicating these genes in hair follicle development. In particular, rs3771033 was a significant expression quantitative trait locus for NRP2, where the T allele correlated with lower NRP2 expression but higher FUD. We also found substantial genetic overlap among hair density traits, hair curliness, eyebrow thickness, beard thickness and MPB. In UK Biobank analyses, rs3771033 exhibited allele-specific treatment effects on finasteride response in MPB.Conclusions We identified three loci that shape hair density in East Asian populations. Our results clarify the genetic and environmental architecture underlying hair density traits and suggest that genotype-specific responses to finasteride may open new avenues for the personalized management of hair disorders. Hair loss is caused by common conditions such as male pattern baldness. The condition affects millions of people worldwide and can have an impact on a person's confidence and quality of life.This study was carried out by researchers in China, to try to understand the causes of differences in hair density in East Asian people. We aimed to identify genetic and environmental factors that determine how thick or full a person's hair appears.Using advanced genetic techniques, we examined the DNA from 5735 Chinese Han participants. We also assessed hair density through detailed imaging techniques. We also considered other factors like age, sex, BMI ('body mass index') and menopausal status. We found that three important genes were linked to hair density. These genes are called 'SPRY1', 'RSPO1' and 'NRP2'. They were also associated with hair loss conditions like male pattern baldness. We also found that people with certain genetic variations respond differently to a common hair loss medication called 'finasteride'. This suggests that treatments could be personalized based on a person's genetics.Our findings offer hope for more effective, tailored, hair loss treatments in the future. Understanding the genetic factors involved in hair density could lead to new therapies. This study also highlights how important genetics and lifestyle are in managing hair health. Future research should explore these genetic links further. It should also test personalized treatment approaches to improve outcomes for people experiencing hair loss. Genetic and environmental factors affecting hair density were studied in 5735 Chinese Han individuals. Three loci SPRY1, RSPO1 and NRP2 were identified, overlapping with baldness. Genotype-specific finasteride responses suggest personalized hair loss treatment approaches to improve outcomes in patients.
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