Hum Genet DOI 10.1007/s00439-006-0198-x 123 ORIGINAL INVESTIGATION The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males Shai Rosenberg · Alan R. Templeton · Paul D. Feigin · Doron Lancet · Jacques S. Beckmann · Sara Selig · Dean H. Hamer · Karl Skorecki Received: 14 February 2006 / Accepted: 18 April 2006  Springer-Verlag 2006 Abstract Monoamine oxidase A (MAOA) catalyses the oxidative deamination of biogenic amines including neurotransmitters, mainly norepinephrine and serotonin in the brain and peripheral tissues. A nonsense mutation in the gene was shown to be involved in a rare X-linked behavioural syndrome, which includes impaired impulse control, aggression and borderline mental retardation (Brunner syndrome). Several recent studies have shown the association of genetic variation of a VNTR in the gene promoter with various pathological behavioural traits. In the present study the association of MAOA genetic variation with a large set of quantitative behav- ioural traits in normal individuals has been examined. DNA samples from 421 unrelated males were geno- typed for 14 SNPs and for the promoter VNTR at the MAOA locus. An additional 16 SNPs were genotyped at apparently neutral loci across the X chromosome to serve as a genomic control for possible false positive associations due to population structure. Behavioural traits were measured using the NEO psychometric ques- tionnaire, which is based on a 5-axis model of personal- ity, and consists of 30 diVerent quantitative traits. There was a robust association of the A2 (“straightforward- ness”) facet with common allelic variants at the pro- moter VNTR. Most of the tested traits were not associated with the VNTR despite reasonable power, thus demonstrating that the VNTR inXuence on quanti- tative behavioural traits in normal males may be very speciWc. In contrast, several traits of the C (“conscien- Electronic Supplementary Material Supplementary material is available to authorised users in the online version of this article at http://dx.doi.org/10.1007/s00439-006-0198-x. S. Rosenberg (&) · S. Selig · K. Skorecki (&) Rappaport Faculty of Medicine and Research Institute, Technion–Israel Institute of Technology, 1 Efron Street, Haifa, 31096, Israel e-mail: rozenber@tx.technion.ac.il K. Skorecki e-mail: skorecki@tx.technion.ac.il A. R. Templeton Department of Biology, Washington University, 1 Brookings, Campus Box 1137, St. Louis, MO 63130, USA P. D. Feigin William Davidson Faculty of Industrial Engineering and Management, Technion–Israel Institute of Technology, Technion City, Haifa, 32000, Israel D. Lancet Department of Molecular Genetics and the Crown Human Genome Center, The Weizmann Institute of Science, Rehovot, 76100, Israel J. S. Beckmann Department of Medical Genetics, University of Lausanne, 2 Avenue Pierre Decker, 1011 Lausanne, Switzerland J. S. Beckmann Dépt de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland D. H. Hamer Laboratory of Biochemistry, NCI, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA S. Selig · K. Skorecki Department of Nephrology and Molecular Medicine, Rambam Medical Center, 1 Efron Street, Haifa, 31096, Israel