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Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.

ABSTRACT: Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major requirement for the phenotype. We demonstrate that genetic variability in the androgen receptor gene (AR) is the cardinal prerequisite for the development of early-onset AGA, with an etiological fraction of 0.46. The investigation of a large number of genetic variants covering the AR locus suggests that a polyglycine-encoding GGN repeat in exon 1 is a plausible candidate for conferring the functional effect. The X-chromosomal location of AR stresses the importance of the maternal line in the inheritance of AGA.

SUBMITTER: Hillmer AM

PROVIDER: S-EPMC1226186 | biostudies-literature | 2005 Jul

REPOSITORIES: biostudies-literature

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Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.

Hillmer Axel M AM Hanneken Sandra S Ritzmann Sibylle S Becker Tim T Freudenberg Jan J Brockschmidt Felix F FF Flaquer Antonia A Freudenberg-Hua Yun Y Jamra Rami Abou RA Metzen Christine C Heyn Uwe U Schweiger Nadine N Betz Regina C RC Blaumeiser Bettina B Hampe Jochen J Schreiber Stefan S Schulze Thomas G TG Hennies Hans Christian HC Schumacher Johannes J Propping Peter P Ruzicka Thomas T Cichon Sven S Wienker Thomas F TF Kruse Roland R Nothen Markus M MM

American journal of human genetics 20050518 1

Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major requirement for the phenotype. We demonstrate that genetic variability in the androgen receptor gene (AR) is the cardinal prerequisite for the development of early-onset AGA, with an etiological fraction of 0.46. The investigation of a large number of genetic variants covering the AR locus suggests that a polyglycine-encoding ...[more]

PMID: 15902657

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Project description:BackgroundEarly-onset androgenetic alopecia (AGA) has been associated with various chronic conditions, including metabolic syndrome (MetS). Gaining a deep understanding of early-onset AGA may enable earlier intervention in individuals at high risks. This scoping review aims to explore the risk factors and etiology, associated conditions, and adverse effects on wellbeing in early-onset AGA.MethodsElectronic literature searches were conducted in MEDLINE, EMBASE and CENTRIAL. Eligible studies included case-control, cohort, cross-sectional, and meta-analysis studies. Selected studies needed to clearly define early-onset AGA cases or include only cases starting before the age of 40 and compare them with appropriate controls. The exclusion criteria comprised editorials, commentaries, case series, and non-systematic reviews, among others. Data extraction involved collecting study characteristics, methodologies, main outcomes, and findings. Descriptive tables were used to summarize key information and relevant variables when necessary.ResultsAmong the 65 eligible articles, 67.69% were case-control studies and 78.46% evaluated only male patients. "Early-onset" was defined as cases developing before the age of 30 years in 43.08% of the studies. The Hamilton-Norwood scale was the most frequently used method for evaluating the severity of alopecia in men (69.23%). Reported risk factors for early-onset AGA included a family history of AGA, cigarette smoking, unhealthy dietary habits, and a high body mass index. Early-onset AGA may also be associated with hormonal profiles, 5α-reductase enzyme activity, androgen receptor genes, and some susceptibility loci. Comorbidities investigated included MetS, cardiovascular disease, insulin resistance, dyslipidemia, and Parkinson's disease. Men with early-onset AGA may have reduced treatment efficacy with drug like rosuvastatin, metformin or lisinopril for dyslipidemia, prediabetes, or hypertension. Additionally, young men with AGA tended to suffer from psychological issues such as anxiety and low self-esteem compared to those without hair loss.ConclusionEarly-onset AGA is a complex condition with various risk factors and etiology, associated comorbidities, and potential implications for treatment response and psychological health.

Dataset Information

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.

Publications

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.

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