Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.

McLaughlin, Russell L; Kenna, Kevin P; Vajda, Alice; Heverin, Mark; Byrne, Susan; Donaghy, Colette G; Cronin, Simon; Bradley, Daniel G; Hardiman, Orla

McLaughlin, Russell L; Kenna, Kevin P; Vajda, Alice; Heverin, Mark; Byrne, Susan; Donaghy, Colette G; Cronin, Simon; Bradley, Daniel G; Hardiman, Orla.

Afiliación

McLaughlin RL; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland. Electronic address: mclaugr@tcd.ie.
Kenna KP; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland. Electronic address: kennak@tcd.ie.
Vajda A; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin 2, Ireland. Electronic address: vajdaa@tcd.ie.
Heverin M; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin 2, Ireland. Electronic address: mark.heverin@tcd.ie.
Byrne S; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin 2, Ireland. Electronic address: suabyrne@gmail.com.
Donaghy CG; Department of Neurology, Royal Victoria Hospital, Belfast, Northern Ireland, United Kingdom. Electronic address: donaghy1a@hotmail.com.
Cronin S; Beaumont Hospital, Dublin 9, Ireland; Cork University Hospital, Cork, Ireland. Electronic address: scronin@rcsi.ie.
Bradley DG; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland. Electronic address: dbradley@tcd.ie.
Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin 2, Ireland. Electronic address: hardimao@tcd.ie.

Genomics ; 105(4): 237-41, 2015 Apr.

Article en En | MEDLINE | ID: mdl-25620680

Asunto(s)

Esclerosis Amiotrófica Lateral/genética; Genes Recesivos; Predisposición Genética a la Enfermedad; Homocigoto; Polimorfismo de Nucleótido Simple; Adulto; Anciano; Esclerosis Amiotrófica Lateral/epidemiología; Estudios de Casos y Controles; Demografía; Femenino; Sitios Genéticos; Genoma Humano; Estudio de Asociación del Genoma Completo; Humanos; Irlanda; Masculino; Persona de Mediana Edad; Riesgo; Población Blanca/genética

Palabras clave

ALS; Amyotrophic lateral sclerosis; Irish population; Panmixia; Population density; ROH; Runs of homozyosity

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Genes Recesivos / Homocigoto / Esclerosis Amiotrófica Lateral Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article

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