Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness. / Marcińska, Magdalena; Pośpiech, Ewelina; Abidi, Sarah; Andersen, Jeppe Dyrberg; van den Berge, Margreet; Carracedo, Ángel; Eduardoff, Mayra; Marczakiewicz-Lustig, Anna; Morling, Niels; Sijen, Titia; Skowron, Małgorzata; Söchtig, Jens; Syndercombe-Court, Denise; Weiler, Natalie; EUROFORGEN-NoE Consortium; Schneider, Peter M; Ballard, David; Børsting, Claus; Parson, Walther; Phillips, Chris; Branicki, Wojciech.
I: PloS one, Bind 10, Nr. 5, e0127852, 2015, s. 1-18.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
AU - Marcińska, Magdalena
AU - Pośpiech, Ewelina
AU - Abidi, Sarah
AU - Andersen, Jeppe Dyrberg
AU - van den Berge, Margreet
AU - Carracedo, Ángel
AU - Eduardoff, Mayra
AU - Marczakiewicz-Lustig, Anna
AU - Morling, Niels
AU - Sijen, Titia
AU - Skowron, Małgorzata
AU - Söchtig, Jens
AU - Syndercombe-Court, Denise
AU - Weiler, Natalie
AU - EUROFORGEN-NoE Consortium
AU - Schneider, Peter M
AU - Ballard, David
AU - Børsting, Claus
AU - Parson, Walther
AU - Phillips, Chris
AU - Branicki, Wojciech
PY - 2015
Y1 - 2015
N2 - Androgenetic 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.
AB - Androgenetic 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.
U2 - 10.1371/journal.pone.0127852
DO - 10.1371/journal.pone.0127852
M3 - Journal article
C2 - 26001114
VL - 10
SP - 1
EP - 18
JO - PLoS ONE
JF - PLoS ONE
SN - 1932-6203
IS - 5
M1 - e0127852
ER -
ID: 140633864