Molecular Genetics of Alopecias

January 2015 in “ Current problems in dermatology ”

Yuval Ramot, Abraham Zlotogorski

Studysummary This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.

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

The 2015 document summarizes the progress in understanding the genetic basis of various alopecias, including monogenic and polygenic disorders. It identifies specific gene mutations responsible for hair diseases, such as mutations in LPAR6, LIPH, keratin genes, desmosomal components, and the HR gene, which affect hair growth, structure, and integrity. The paper also discusses the genetic factors in androgenetic alopecia (AGA), with 12 susceptibility loci identified, and alopecia areata (AA), with several loci identified through GWAS studies. It emphasizes the role of WNT signaling and the immune system in these conditions. The findings suggest that a deeper understanding of the molecular pathways can lead to new treatments for hair disorders.

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Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

21 citations , April 2014 in “PLoS ONE”

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

research Investigation of Four Novel Male Androgenetic Alopecia Susceptibility Loci: No Association with Female Pattern Hair Loss

21 citations , December 2013 in “Archives of Dermatological Research”

No link found between new male baldness genes and female hair loss.

research Investigation of Six Novel Susceptibility Loci for Male Androgenetic Alopecia in Women With Female Pattern Hair Loss

25 citations , July 2013 in “Journal of Dermatological Science”

This study suggests that the androgen receptor locus on the X chromosome may play a role in the pathogenesis of early-onset female pattern hair loss.

research Evidence for a Polygenic Contribution to Androgenetic Alopecia

26 citations , May 2013 in “British Journal of Dermatology”

This study provides evidence that a polygenic component contributes to the heritable risk for androgenetic alopecia, indicating the need for further research to identify the complex biological pathways involved.

research Androgenetic Alopecia: Identification Of Four Genetic Risk Loci And Evidence For The Contribution Of WNT Signaling To Its Etiology

74 citations , January 2013 in “Journal of Investigative Dermatology”

Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance

15 citations , June 2012 in “British Journal of Dermatology”

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

research The Proteomic Profile of Hair Damage

20 citations , June 2012 in “British Journal of Dermatology”

This study discusses the proteomic profile associated with hair damage but does not report new experimental findings.

research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases

87 citations , May 2012 in “PLOS Genetics”

This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.

research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

78 citations , May 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes woolly hair and hair loss.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations , November 2011 in “The Journal of Dermatology”

This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.

research Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families

40 citations , December 2010 in “Human Genetics”

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

717 citations , June 2010 in “Nature”

This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

199 citations , April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

research Fine Mapping of the Human AR/EDA2R Locus in Androgenetic Alopecia

28 citations , March 2010 in “British Journal of Dermatology”

This abstract contains only supplementary material information and reports no new research findings.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

42 citations , October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

research Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6

253 citations , April 2009 in “Journal of Biological Chemistry”

This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.

research Endocrine Controls of Keratin Expression

54 citations , March 2009 in “BioEssays”

This review discusses the complex hormonal control of keratin expression in skin and its potential implications for treating skin and hair disorders, but reports no new clinical results.

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

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

181 citations , January 2009 in “Nature Genetics”

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

research Susceptibility Variants for Male-Pattern Baldness on Chromosome 20p11

140 citations , October 2008 in “Nature Genetics”

research Male-Pattern Baldness Susceptibility Locus at 20p11

111 citations , October 2008 in “Nature Genetics”

In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.

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

210 citations , February 2008 in “Nature genetics”

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

research Interactions of the Vitamin D Receptor with the Corepressor Hairless

42 citations , July 2007 in “Journal of Biological Chemistry”

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

143 citations , January 2007 in “The American Journal of Human Genetics”

This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.

research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation

74 citations , September 2006 in “Cell Cycle”

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

60 citations , March 2006 in “Journal of Medical Genetics”

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings

30 citations , August 2005 in “British journal of dermatology/British journal of dermatology, Supplement”

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

research De Novo Mutations in Monilethrix

26 citations , December 2003 in “Experimental Dermatology”

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

research Genetic Basis of Male Pattern Baldness

191 citations , December 2003 in “Journal of Investigative Dermatology”

Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.

Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells

research Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells

46 citations , August 2003 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that phosphatidic acid promotes hair growth by stimulating cell proliferation and protecting against apoptosis in murine hair epithelial cells, unlike lysophosphatidic acid, which showed limited effects.