医学
错义突变
CYP1B1型
病例对照研究
疾病
内科学
生理学
遗传学
基因
突变
生物
细胞色素P450
新陈代谢
作者
Tuntas Rayinda,Sheila M. McSweeney,Evangelos Christou,Chuin Ying Ung,David A. Fenton,John A. McGrath,Nick Dand,Michael A. Simpson,Christos Tziotzios
出处
期刊:JAMA Dermatology
[American Medical Association]
日期:2024-05-29
卷期号:160 (7): 732-732
被引量:1
标识
DOI:10.1001/jamadermatol.2024.1315
摘要
Frontal fibrosing alopecia (FFA) is an increasingly prevalent form of follicular lichen planus, causing irreversible hair loss predominantly in postmenopausal individuals. An earlier genome-wide meta-analysis of female FFA identified risk loci in genes implicated in self-antigen presentation and T-cell homeostasis, including HLA-B*07:02, ST3GAL1, and SEMA4B. However, CYP1B1, which is important for hormone metabolism, was also implicated with the substitution of serine for asparagine at position 453 (c.1358A>G, p.Asn453Ser) exhibiting a protective effect against FFA. Increasing understanding of genetic and environmental variables and their interactions will improve understanding of disease pathogenesis and has the potential to inform risk mitigation strategies.
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