Combing the Genome for the Root Cause of Baldness

October 2008 in “ Nature Genetics ”

W.H. Irwin McLean

genome-wide association analyses genetic loci androgenetic alopecia male-pattern baldness molecular basis genetic factors genetic studies baldness male-pattern hair loss

Studysummary Two key genetic areas linked to male-pattern baldness were identified.

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

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research Male-Pattern Baldness Susceptibility Locus at 20p11

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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

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research Hair Follicle-Specific Keratins And Their Diseases

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This review discusses hair keratins and hair follicle-specific epithelial keratins and their association with inherited hair disorders, reporting no new clinical results.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

research The Hair Cycle

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This article reviews the stages and regulation of the hair cycle, highlighting molecular regulators involved, but it does not present new research findings.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

412 citations , January 1998 in “Science”

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.