0000000000821855
AUTHOR
M. M. Nöthen
Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene
We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 co…
Mutationsanalyse des 5-HT1A-Rezeptor-Gens bei schizophrenen und affektiven Psychosen
Storungen im Serotoninstoffwechsel werden bei einer Vielzahl neuropsychiatrischer Erkrankungen (z. B. Angststorung, Depression, Schizophrenie, Alkoholismus, Migrane, Aggressives Verhalten, Suizidalitat, Tourette-Syndrom) beobachtet. Die Serotonin (5-Hydroxytryptamin, 5-HT) Rezeptoren konnen in mindestens drei Hauptgruppen unterteilt werden und zwar in 5-HTr, 5-HT2- und 5-HT3-Rezeptoren. Beim Menschen konnten bislang funf 5-HTrRezeptorsubtypen kloniert werden: der 5-HT1A, 5-HT1Dα, 5-HT1Dβ, 5-HT1E und der 5-HT1F Rezeptor (Ubersicht bei Shih et al. 1995). Der 5-HT1A ist der pharmakologisch am besten charakterisierte 5-HT1-Subtyp.
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…
GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.
Contains fulltext : 177350.pdf (Publisher’s version ) (Closed access) The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 x 10-8; rs191260602, P=3.9 x 10-8). We followed up on this finding in a larger dimensional AC…
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locu…