Familial cosegregation of rare genetic variants with disease in complex disorders

European Journal of Human Genetics

Volumn 21, Issue 4, 2013, Pages 444-450

  Helbig, Ingo ^a   Hodge, Susan E ^b,c,e   Ottman, Ruth ^c,d  

^a UNIVERSITY OF KIEL   (Germany)

^b Columbia University ^*  (United States)

^c NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

^d Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^e OHIO STATE UNIVERSITY   (United States)

Author keywords

epidemiology; epilepsy; familial risk; genome sequencing; microdeletion; rare variant

Indexed keywords

ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FIRST DEGREE RELATIVE; GENE DELETION; GENE SEGREGATION; GENERALIZED EPILEPSY; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; PANIC; PRIORITY JOURNAL; PROBABILITY; RECURRENCE RISK; SIBLING; TEMPORAL LOBE EPILEPSY;

ALLELES; CHROMOSOMES, HUMAN, PAIR 15; EPILEPSY, GENERALIZED; GENE FREQUENCY; GENETIC DISEASES, INBORN; GENETIC LINKAGE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, GENETIC; PEDIGREE; POPULATION; SEQUENCE DELETION;

EID: 84875052549     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.194     Document Type: Article

References (21)

1. Manolio TA, Collins FS, Cox NJ et al: Finding the missing heritability of complexdiseases. Nature 2009; 461: 747-753.
2. Helbig I, Mefford HC, Sharp AJ et al: 15q13. microdeletions increase risk ofidiopathic generalized epilepsy. Nat Genet 2009; 41: 160-162.
3. International Schizophrenia Consortium. Rare chromosomal deletions and duplicationsincrease risk of schizophrenia. Nature 2008; 455: 237-241.
4. Sharp AJ, Mefford HC, Li K et al: A recurrent 15q13. microdeletion syndromeassociated with mental retardation and seizures. Nat Genet 2008; 40: 322-328. (Pubitemid 351311774)
5. Stefansson H, Rujescu D, Cichon S et al: Large recurrent microdeletions associatedwith schizophrenia. Nature 2008; 455: 232-236.
6. Hemminki K, Li X, Johansson SE, Sundquist K, Sundquist J: Familial risks for epilepsyamong siblings based on hospitalizations in Sweden. Neuroepidemiology 2006; 27:67-73. (Pubitemid 44387440)
7. Vassos E, Collier DA, Holden S et al: Penetrance for copy number variants associatedwith schizophrenia. Hum Mol Genet 2010; 19: 3477-3481.
8. Dibbens LM, Mullen S, Helbig I et al: Familial and sporadic 15q13. microdeletions inidiopathic generalized epilepsy: precedent for disorders with complex inheritance.Hum Mol Genet 2009; 18: 3626-3631.
9. de Kovel CG, Trucks H, Helbig I et al: Recurrent microdeletions at 15q11.2and 16p13. predispose to idiopathic generalized epilepsies. Brain 2010; 133:23-32.
10. van Bon BW, Mefford HC, Menten B et al: Further delineation of the 15q13microdeletion and duplication syndromes: a clinical spectrum varying from nonpathogenicto a severe outcome. J Med Genet 2009; 46: 511-523.
11. Gecz J, Shoubridge C, Corbett M: The genetic landscape of intellectual disabilityarising from chromosome X. Trends Genet 2009; 25: 308-316.
12. Dibbens LM, Heron SE, Mulley JC: A polygenic heterogeneity model for commonepilepsies with complex genetics. Genes Brain Behav 2007; 6: 593-597. (Pubitemid 47476192)
13. Hesdorffer DC, Logroscino G, Benn EK, Katri N, Cascino G, Hauser WA: Estimatingrisk for developing epilepsy: a population-based study in Rochester, Minnesota.Neurology 2011; 76: 23-27.
14. Jallon P, Latour P: Epidemiology of idiopathic generalized epilepsies. Epilepsia 2005;46(Suppl 9): 10-14. (Pubitemid 44921975)
15. Kirov G, Grozeva D, Norton N et al: Support for the involvement of large copy numbervariants in the pathogenesis of schizophrenia. Hum Mol Genet 2009; 18: 1497-1503.
16. Risch N: Linkage strategies for genetically complex traits. I. Multilocus models. Am JHum Genet 1990; 46: 222-228.
17. Ottman R, Lee JH, Hauser WA, Risch N: Are generalized and localization-relatedepilepsies genetically distinct? Arch Neurol 1998; 55: 339-344. (Pubitemid 28146198)
18. Bianchi A, Viaggi S, Chiossi E: Family study of epilepsy in first degree relatives: datafrom the Italian Episcreen Study. Seizure 2003; 12: 203-210. (Pubitemid 36701658)
19. Risch N, Merikangas K: The future of genetic studies of complex human diseases.Science 1996; 273: 1516-1517. (Pubitemid 26301653)
20. Ionita-Laza I, Ottman R: Study designs for identification of rare disease variants incomplex diseases: the utility of family-based designs. Genetics 2011; 189: 1061-1068.
21. McClellan J, King MC: Genetic heterogeneity in human disease. Cell 2010; 141:210-217.