Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness

2015
journal article
article
cris.lastimport.wos2024-04-09T20:40:11Z
dc.abstract.enAndrogenetic alopecia, known in men as male pattern baldness (MPB), is a very conspicuous condition that is particularly frequent among European men and thus contributes markedly to variation in physical appearance traits amongst Europeans. Recent studies have revealed multiple genes and polymorphisms to be associated with susceptibility to MPB. In this study, 50 candidate SNPs for androgenetic alopecia were analyzed in order to verify their potential to predict MPB. Significant associations were confirmed for 29 SNPs from chromosomes X, 1, 5, 7, 18 and 20. A simple 5-SNP prediction model and an extended 20-SNP model were developed based on a discovery panel of 305 males from various European populations fitting one of two distinct phenotype categories. The first category consisted of men below 50 years of age with significant baldness and the second; men aged 50 years or older lacking baldness. The simple model comprised the five best predictors: rs5919324 near AR, rs1998076 in the 20p11 region, rs929626 in EBF1, rs12565727 in TARDBP and rs756853 in HDAC9. The extended prediction model added 15 SNPs from five genomic regions that improved overall prevalence-adjusted predictive accuracy measured by area under the receiver characteristic operating curve (AUC). Both models were evaluated for predictive accuracy using a test set of 300 males reflecting the general European population. Applying a 65% probability threshold, high prediction sensitivity of 87.1% but low specificity of 42.4% was obtained in men aged <50 years. In men aged ≥50, prediction sensitivity was slightly lower at 67.7% while specificity reached 90%. Overall, the AUC=0.761 calculated for men at or above 50 years of age indicates these SNPs offer considerable potential for the application of genetic tests to predict MPB patterns, adding a highly informative predictive system to the emerging field of forensic analysis of externally visible characteristics.pl
dc.affiliationWydział Farmaceutyczny : Zakład Analityki Biochemicznejpl
dc.affiliationWydział Biologii i Nauk o Ziemi : Instytut Zoologiipl
dc.cm.id72669
dc.contributor.authorMarcińska, Magdalenapl
dc.contributor.authorPośpiech, Ewelina - 108809 pl
dc.contributor.authorSarah, Abidipl
dc.contributor.authorMargreet, van den Bergepl
dc.contributor.authorÁngel, Carracedopl
dc.contributor.authorMayra, Eduardoffpl
dc.contributor.authorMarczakiewicz-Lustig, Anna - 149839 pl
dc.contributor.authorMorling, Nielspl
dc.contributor.authorSijen, Titjapl
dc.contributor.authorSkowron, Małgorzatapl
dc.contributor.authorSochtig, Jenspl
dc.contributor.authorSyndercombe-Court, Denisepl
dc.contributor.authorWeiler, Nataliepl
dc.contributor.authorSchneider, Peterpl
dc.contributor.authorBallard, Davidpl
dc.contributor.authorBorsting, Clauspl
dc.contributor.authorParson, Waltherpl
dc.contributor.authorPhillips, Chrispl
dc.contributor.authorBranicki, Wojciech - 185426 pl
dc.contributor.institutionThe EUROFORGEN-NoE Consortiumpl
dc.date.accessioned2015-10-23T11:41:52Z
dc.date.available2015-10-23T11:41:52Z
dc.date.issued2015pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.admin[AU] Branicki, Wojciech [SAP13016047]
dc.description.number5pl
dc.description.points40pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume10pl
dc.identifier.articleide0127852pl
dc.identifier.doi10.1371/journal.pone.0127852pl
dc.identifier.eissn1932-6203pl
dc.identifier.projectROD UJ / Ppl
dc.identifier.urihttp://ruj.uj.edu.pl/xmlui/handle/item/16327
dc.languageengpl
dc.language.containerengpl
dc.rightsUdzielam licencji. Przekazanie do Domeny Publicznej 1.0*
dc.rights.licenceCC-BY
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/legalcode.pl*
dc.share.typeotwarte czasopismo
dc.subtypeArticlepl
dc.titleEvaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldnesspl
dc.title.journalPLoS ONEpl
dc.typeJournalArticlepl
dspace.entity.typePublication

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