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ABCA1 rs2230805 and rs2230806 common gene variants are associated with Alzheimer's disease.
Fehér, Ágnes; Giricz, Zsófia; Juhász, Anna; Pákáski, Magdolna; Janka, Zoltán; Kálmán, János.
Afiliación
  • Fehér Á; University of Szeged, Department of Psychiatry, Szeged, Hungary. Electronic address: feher.agnes@med.u-szeged.hu.
  • Giricz Z; University of Szeged, Department of Psychiatry, Szeged, Hungary.
  • Juhász A; University of Szeged, Department of Psychiatry, Szeged, Hungary.
  • Pákáski M; University of Szeged, Department of Psychiatry, Szeged, Hungary.
  • Janka Z; University of Szeged, Department of Psychiatry, Szeged, Hungary.
  • Kálmán J; University of Szeged, Department of Psychiatry, Szeged, Hungary.
Neurosci Lett ; 664: 79-83, 2018 01 18.
Article en En | MEDLINE | ID: mdl-29133174
The ATP-binding cassette, sub-family A, member 1 gene (ABCA1) is a relevant positional and functional candidate gene for Alzheimer's disease (AD). A case-control association study of genetic variations covering the ABCA1 locus was performed in relation to AD risk in a Hungarian sample. Five single nucleotide polymorphisms (rs2422493: C-477T, rs2740483: G-17C, rs2230805: G474A/L158L, rs2230806: G656A/R219K and rs2066718: G2311A/V771M) were genotyped in 431 AD patients and 302 cognitively healthy, elderly controls. In single marker analysis, significant associations were found in the case of rs2230805 and rs2230806 polymorphisms: the minor A allele containing genotypes for both polymorphisms were more frequent in the control compared to the AD group. Haplotype analysis revealed that rs2230805, rs2230806 and rs2066718 polymorphisms created a linkage disequilibrium (LD) block with a strong LD between rs2230805 and rs2230806 polymorphisms. In the haplotype risk association tests, A-A-G haplotype of the rs2230805-rs2230806-rs2066718 polymorphisms was found to be nominally significantly more frequent in the control group. After correcting p values for multiple testing, only the effects of the rs2230805 and rs2230806 polymorphisms remained significant in the recessive model suggesting a modest protective effect of their minor alleles in AD, which should be interpreted with considerable caution, until further studies elucidate their role in AD pathology.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Enfermedad de Alzheimer / Transportador 1 de Casete de Unión a ATP Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Aged80 / Female / Humans / Male Idioma: En Revista: Neurosci Lett Año: 2018 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Enfermedad de Alzheimer / Transportador 1 de Casete de Unión a ATP Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Aged80 / Female / Humans / Male Idioma: En Revista: Neurosci Lett Año: 2018 Tipo del documento: Article Pais de publicación: Irlanda