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.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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research Susceptibility Variants on Chromosome 7p21.1 Suggest HDAC9 as a New Candidate Gene for Male-Pattern Baldness

51 citations , November 2011 in “British Journal of Dermatology”

This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.

research The Genetics of Alopecia Areata: What's New and How Will It Help Our Patients?

43 citations , May 2011 in “Dermatologic therapy”

This study identified at least eight genetic regions associated with alopecia areata, which may lead to the development of new targeted therapies based on these findings.

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

87 citations , March 2011 in “Australasian Journal of Dermatology”

This review explores the current understanding of genetic and hormonal influences on male androgenetic alopecia and female pattern hair loss, providing guidance for clinicians but reports no new results.

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

26 citations , September 2010 in “Experimental Dermatology”

In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.

Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

research Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

61 citations , September 2010 in “Genomics”

This study found distinct gene expression profiles in alopecia areata-affected skin, suggesting T-cell mediated immune responses and unique gene profiles between different stages of the disease.

research Biology and Genetics of Hair

89 citations , September 2010 in “Annual Review of Genomics and Human Genetics”

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

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 Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

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 EDA2R Is Associated With Androgenetic Alopecia

82 citations , April 2008 in “Journal of Investigative Dermatology”

EDA2R gene linked to hair loss.

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 Lymphocytes, Neuropeptides, And Genes Involved In Alopecia Areata

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

This review examines the interplay of genetics and neuroimmunology in alopecia areata, highlighting its potential to inform broader autoimmunity research, but reports no new findings.

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

57 citations , November 2006 in “International Journal of Cancer”

This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.

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 Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

13 citations , August 2005 in “Journal of Investigative Dermatology Symposium Proceedings”

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.

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.

The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

research The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

76 citations , April 2005 in “Cancer Epidemiology, Biomarkers & Prevention”

This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.

research Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity

372 citations , December 2004 in “Nature Genetics”

research K6irs1, K6irs2, K6irs3, And K6irs4 Represent The Inner-Root-Sheath-Specific Type II Epithelial Keratins Of The Human Hair Follicle

130 citations , April 2003 in “Journal of Investigative Dermatology”

This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.

research Analysis of Genetic Polymorphisms of Steroid 5α-Reductase Type 1 and 2 Genes in Korean Men with Androgenetic Alopecia

15 citations , April 2003 in “Journal of Dermatological Science”

This study found no significant associations between the polymorphisms of SRD5A1 and SRD5A2 genes and androgenetic alopecia, clinical types of baldness, or response to finasteride in Koreans.

research Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes

169 citations , June 1998 in “Journal of Investigative Dermatology”

This study found no significant genetic association between the 5α-reductase enzyme genes and male pattern baldness, suggesting a polygenic etiology rather than simple inheritance.

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.