No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

Martina Durner, Shlomo Shinnar, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Jeffrey Cohen, Cynthia Harden, Harriet Kang, Sharon Hertz, Sibylle Wallace, Daniel Luciano, Karen R. Ballaban-Gil, David A. Greenberg

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Juvenile myoclonic epilepsy (JME) is a distinct epileptic syndrome with a complex mode of inheritance. Several studies found evidence for a locus involved in JME on chromosome 6 near the HLA region. Recently, Elmslie et al. [1997] reported evidence of linkage in JME to chromosome 15q14 assuming a recessive mode of inheritance with 50% penetrance and 65% linked families. The area on chromosome 15q14 encompasses the location of the gene for the α- 7 subunit of the nicotinic acetylcholine receptor. This could fit the hypothesis that there are two interacting loci, one on chromosome 6 and on chromosome 15 or that there is genetic heterogeneity in JME. In an independent dataset of JME families, we tested for linkage to chromosome 15 but found little evidence for linkage. Moreover, families with more than one family member affected with JME provide a lodscore of 3.4 for the HLA-DR/DQ haplotype on chromosome 6. The lodscore for these same families on chromosome 15q14 is <-2 assuming homogeneity and the maximum lodscore is 0.2 assuming α = .25. Only one of these families has a negative lodscore on chromosome 6 and a positive lodscore of 0.5 on chromosome 15q14. Our results indicate that this possible gene on chromosome 15 plays at most a minor role in our JME families. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)49-52
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number1
DOIs
StatePublished - Feb 7 2000

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Juvenile Myoclonic Epilepsy
Chromosomes
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 15
HLA-DQ Antigens
Genetic Heterogeneity
Penetrance
Nicotinic Receptors
HLA-DR Antigens
Haplotypes
Genes

Keywords

  • Chromosome 15
  • Juvenile Myoclonic Epilepsy
  • Linkage analysis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. / Durner, Martina; Shinnar, Shlomo; Resor, Stanley R.; Moshe, Solomon L.; Rosenbaum, David; Cohen, Jeffrey; Harden, Cynthia; Kang, Harriet; Hertz, Sharon; Wallace, Sibylle; Luciano, Daniel; Ballaban-Gil, Karen R.; Greenberg, David A.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 96, No. 1, 07.02.2000, p. 49-52.

Research output: Contribution to journalArticle

Durner, Martina ; Shinnar, Shlomo ; Resor, Stanley R. ; Moshe, Solomon L. ; Rosenbaum, David ; Cohen, Jeffrey ; Harden, Cynthia ; Kang, Harriet ; Hertz, Sharon ; Wallace, Sibylle ; Luciano, Daniel ; Ballaban-Gil, Karen R. ; Greenberg, David A. / No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2000 ; Vol. 96, No. 1. pp. 49-52.
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abstract = "Juvenile myoclonic epilepsy (JME) is a distinct epileptic syndrome with a complex mode of inheritance. Several studies found evidence for a locus involved in JME on chromosome 6 near the HLA region. Recently, Elmslie et al. [1997] reported evidence of linkage in JME to chromosome 15q14 assuming a recessive mode of inheritance with 50{\%} penetrance and 65{\%} linked families. The area on chromosome 15q14 encompasses the location of the gene for the α- 7 subunit of the nicotinic acetylcholine receptor. This could fit the hypothesis that there are two interacting loci, one on chromosome 6 and on chromosome 15 or that there is genetic heterogeneity in JME. In an independent dataset of JME families, we tested for linkage to chromosome 15 but found little evidence for linkage. Moreover, families with more than one family member affected with JME provide a lodscore of 3.4 for the HLA-DR/DQ haplotype on chromosome 6. The lodscore for these same families on chromosome 15q14 is <-2 assuming homogeneity and the maximum lodscore is 0.2 assuming α = .25. Only one of these families has a negative lodscore on chromosome 6 and a positive lodscore of 0.5 on chromosome 15q14. Our results indicate that this possible gene on chromosome 15 plays at most a minor role in our JME families. (C) 2000 Wiley-Liss, Inc.",
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