ArticleAmerican journal of human genetics2000
Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.
- Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.PloS one · 2017Pooled it
- Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset.Molecular neurobiology · 2026Article
- Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.BioMed research international · 2021Article
- Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy.Annals of clinical and translational neurology · 2021Article
- DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.Epilepsia · 2018Article
- Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Epilepsia · 2015Article
- Some cross-talks between immune cells and epilepsy should not be forgotten.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2014Review
- Sex-specific behavioral traits in the Brd2 mouse model of juvenile myoclonic epilepsy.Genes, brain, and behavior · 2014Article
- Familial risk of epilepsy: a population-based study.Brain : a journal of neurology · 2014Article
- How should we be searching for genes for common epilepsy? A critique and a prescription.Epilepsia · 2012Review
- Linkage analysis of alternative anxiety phenotypes in multiply affected panic disorder families.Psychiatric genetics · 2012Article
- The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels.Journal of cellular biochemistry · 2011Article
- Computer simulation is an undervalued tool for genetic analysis: a historical view and presentation of SHIMSHON--a Web-based genetic simulation package.Human heredity · 2011Article
- Article
- Genetic evaluation and counseling for epilepsy.Nature reviews. Neurology · 2010Review
- The essence of linkage-based imprinting detection: comparing power, type 1 error, and the effects of confounders in two different analysis approaches.Annals of human genetics · 2010Article
- BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2010Article
- Multiple subsampling of dense SNP data localizes disease genes with increased precision.Human heredity · 2010Article
- Double bromodomain-containing gene Brd2 is essential for embryonic development in mouse.Developmental dynamics : an official publication of the American Association of Anatomists · 2009Article
- The power of linkage analysis of a disease-related endophenotype using asymmetrically ascertained sib pairs.Computational statistics & data analysis · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 8 institutions in 1 country.
Funding
Abstract
Evidence for genetic influences in epilepsy is strong, but reports identifying specific chromosomal origins of those influences conflict. One early study reported that human leukocyte antigen (HLA) markers were genetically linked to juvenile myoclonic epilepsy (JME); this was confirmed in a later study. Other reports did not find linkage to HLA markers. One found evidence of linkage to markers on chromosome 15, another to markers on chromosome 6, centromeric to HLA. We identified families through a patient with JME and genotyped markers throughout chromosome 6. Linkage analysis assuming equal male-female recombination probabilities showed evidence for linkage (LOD score 2.5), but at a high recombination fraction (theta), suggesting heterogeneity. When linkage analysis was redone to allow independent male-female thetas, the LOD score was significantly higher (4.2) at a male-female theta of.5,.01. Although the overall pattern of LOD scores with respect to male-female theta could not be explained solely by heterogeneity, the presence of heterogeneity and predominantly maternal inheritance of JME might explain it. By analyzing loci between HLA-DP and HLA-DR and stratifying the families on the basis of evidence for or against linkage, we were able to show evidence of heterogeneity within JME and to propose a marker associated with the linked form. These data also suggest that JME may be predominantly maternally inherited and that the HLA-linked form is more likely to occur in families of European origin.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.