title: Aberrant methylation of gene associated CpG sites occurs in borderline personality disorder.
abstract: Borderline personality disorder (BPD) is a complex psychiatric disease with an increased impact in the last years. While the diagnosis and therapy are well established, little is known on the pathogenesis of borderline personality disorder. Previously, a significant increase in DNA methylation of relevant neuropsychiatric genes in BPD patients has been reported. In our study we performed genome wide methylation analysis and revealed specific CpG sites that exhibited increased methylation in 24 female BPD patients compared to 11 female healthy controls. Bead chip technology and quantitative bisulfite pyrosequencing showed a significantly increased methylation at CpG sites of APBA2 (1.1 fold) and APBA3 (1.1 fold), KCNQ1 (1.5 fold), MCF2 (1.1 fold) and NINJ2 (1.2 fold) in BPD patients. For the CpG sites of GATA4 and HLCS an increase in DNA methylation was observed, but was only significant in the bead chip assay. Moreover genome wide methylation levels of blood samples of BPD patients and control samples are similar. In summary, our results show a significant 1.26 fold average increase in methylation at the analyzed gene associated CpG sites in the blood of BPD patients compared to controls samples (p<0.001). This data may provide new insights into epigenetic mechanisms underlying the pathogenesis of BPD.
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Teschler
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
authors.forename: Marek
authors.initials: M
authors.lastname: Bartkuhn
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
authors.forename: Natascha
authors.initials: N
authors.lastname: Künzel
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Schmidt
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
authors.forename: Steffen
authors.initials: S
authors.lastname: Kiehl
authors.affiliation: Psychiatric Hospital, Spital Thurgau AG, Münsterlingen, Switzerland ; Department of Psychiatry, Basel University Medical School, Basel, Switzerland.
authors.forename: Gerhard
authors.initials: G
authors.lastname: Dammann
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Dammann
mesh_terms: D000328:Adult; D001883:Borderline Personality Disorder / Q000235:genetics*; D016022:Case-Control Studies; D018899:CpG Islands / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D023281:Genomics; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis