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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Pal, Deb K. Tabares, Paula Greenberg, David A. Evgrafov, Oleg V. Durner, Martina Zhang, Fengli |
| Description | Country affiliation: United States Author Affiliation: Pal DK ( Department of Biostatistics, Mailman School of Public Health, and Columbia Genome Center, Columbia University and Clinical and Genetic Epidemiology Unit, New York State Psychiatric Institute, New York, 10032, USA. dkp28@columbia.edu) |
| Abstract | Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy that starts in adolescence. A major JME susceptibility locus (EJM1) was mapped to chromosomal region 6p21 in three independent linkage studies, and association was reported between JME and a microsatellite marker in the 6p21 region. The critical region for EJM1 is delimited by obligate recombinants at HLA-DQ and HLA-DP. In the present study, we found highly significant linkage disequilibrium (LD) between JME and a core haplotype of five single-nucleotide-polymorphism (SNP) and microsatellite markers in this critical region, with LD peaking in the BRD2 (RING3) gene (odds ratio 6.45; 95% confidence interval 2.36-17.58). DNA sequencing revealed two JME-associated SNP variants in the BRD2 (RING3) promoter region but no other potentially causative coding mutations in 20 probands from families with positive LOD scores. BRD2 (RING3) is a putative nuclear transcriptional regulator from a family of genes that are expressed during development. Our findings strongly suggest that BRD2 (RING3) is EJM1, the first gene identified for a common idiopathic epilepsy. These findings also suggest that abnormalities of neural development may be a cause of common idiopathic epilepsy, and the findings have implications for the generalizability of proposed pathogenetic mechanisms, derived from diseases that show Mendelian transmission, to their complex counterparts. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 2 |
| Volume Number | 73 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-08-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Myoclonic Epilepsy, Juvenile Genetics Protein-serine-threonine Kinases Adolescent Case-control Studies Chromosome Mapping Chromosomes, Human, Pair 6 Dna Mutational Analysis Genetic Variation Linkage Disequilibrium Molecular Sequence Data Polymorphism, Single Nucleotide Promoter Regions, Genetic Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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