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ItemAndrogen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control StudyCobb, JE ; White, SJ ; Harrap, SB ; Ellis, JA ; Fairhead, C (PUBLIC LIBRARY SCIENCE, 2009-04-02)BACKGROUND: The functional polymorphism that explains the established association of the androgen receptor (AR) with androgenetic alopecia (AGA) remains unidentified, but Copy Number Variation (CNV) might be relevant. CNV involves changes in copy number of large segments of DNA, leading to the altered dosage of gene regulators or genes themselves. Two recent reports indicate regions of CNV in and around AR, and these have not been studied in relation to AGA. The aim of this preliminary case-control study was to determine if AR CNV is associated with AGA, with the hypothesis that CNV is the functional AR variant contributing to this condition. METHODOLOGY/PRINCIPAL FINDINGS: Multiplex Ligation-dependent Probe Amplification was used to screen for CNV in five AR exons and a conserved, non-coding region upstream of AR in 85 men carefully selected as cases and controls for maximal phenotypic contrast. There was no evidence of CNV in AR in any of the cases or controls, and thus no evidence of significant association between AGA and AR CNV. CONCLUSIONS/SIGNIFICANCE: The results suggest this form of genomic variation at the AR locus is unlikely to predispose to AGA.
ItemGenomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO SynthaseSalvi, E ; Kutalik, Z ; Glorioso, N ; Benaglio, P ; Frau, F ; Kuznetsova, T ; Arima, H ; Hoggart, C ; Tichet, J ; Nikitin, Y ; Conti, C ; Seidlerova, J ; Tikhonoff, V ; Stolarz-Skrzypek, K ; Johnson, T ; Devos, N ; Zagato, L ; Guarrera, S ; Zaninello, R ; Calabria, A ; Stancanelli, B ; Troffa, C ; Thijs, L ; Rizzi, F ; Simonova, G ; Lupoli, S ; Argiolas, G ; Braga, D ; D'Alessio, M ; Ortu, M ; Ricceri, F ; Mercurio, M ; Descombes, P ; Marconi, M ; Chalmers, J ; HARRAP, STEPHEN ; Filipovsky, J ; Bochud, M ; Iacoviello, L ; ELLIS, JUSTINE ; Stanton, A ; Laan, M ; Padmanabhan, S ; Dominiczak, A ; Samani, N ; Melander, O ; Jeunemaitre, X ; Manunta, P ; Shabo, A ; Vineis, P ; Cappuccio, F ; Caulfield, M ; Matullo, G ; Rivolta, C ; Munroe, P ; Barlassina, C ; Staessen, J ; Beckmann, J ; Cusi, D ( 2012)