Genetics of Alopecia

April 2012 in “ Encyclopedia of Life Sciences ”

Shigeki Inui

Studysummary This review discusses recent genome-wide association studies identifying novel candidate genes for various forms of alopecia, providing insights into their pathogenesis and molecular mechanisms, but reports no new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

The document "Genetics of Alopecia" from April 16, 2012, discussed the genetic factors associated with different types of alopecia. A genome-wide association study identified eight regions associated with alopecia areata (AA), including CTLA4, IL-2/IL-22, HLA-class II, UL16-binding protein-3 and -6, syntaxin 17, IL-2RA, peroxiredoxin 5 and Eos. Androgenetic alopecia was linked to both androgen-related genes (5α-reductase isozymes, androgen receptor, ectodysplasin A2 receptor, and histone deacetylase 9) and androgen-unrelated genes (PAX1 and FOXA2). The study also identified specific gene mutations associated with congenital hypotrichosis, including mutations in EDA-A1, EDAR, EDA-RADD, p63, P-cadherin, SPINK5, desmoglein 4, lipase H (LIPH), LPAR6 (P2RY5), keratin 74, corneodesmosin, APCDD, and hairless. These findings provided new insights into the pathogenesis of alopecia and the molecular mechanisms of normal hair growth.

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research Role of Genetics and Sex Steroid Hormones in Male Androgenetic Alopecia and Female Pattern Hair Loss: An Update

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Evidence of Increased DNA Methylation of the Androgen Receptor Gene in Occipital Hair Follicles from Men with Androgenetic Alopecia

research Evidence of Increased DNA Methylation of the Androgen Receptor Gene in Occipital Hair Follicles from Men with Androgenetic Alopecia

24 citations , March 2011 in “British Journal of Dermatology”

This study found evidence of increased DNA methylation of the androgen receptor gene in occipital hair follicles from men with androgenetic alopecia.

research Evidence for Two Independent Functional Variants for Androgenetic Alopecia Around the Androgen Receptor Gene

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research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

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research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

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research Lymphocytes, Neuropeptides, And Genes Involved In Alopecia Areata

286 citations , August 2007 in “Journal of Clinical Investigation”

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research 5α-Reductase Type 2 Gene Variant Associations with Prostate Cancer Risk, Circulating Hormone Levels, and Androgenetic Alopecia

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This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

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