Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.
Neurobiol Aging
; 35(10): 2422.e9-2422.e11, 2014 Oct.
Article
en En
| MEDLINE
| ID: mdl-24866402
ABSTRACT
Recently, 3 rare coding variants significantly associated with Alzheimer's disease (AD) risk have been identified in western populations using whole exome sequencing method, including p.R47H in TREM2, p.V232M in PLD3, and p.T835M in UNC5C. To examine whether these variants are genetic risk factors in patients with AD from mainland China, we sequenced exon 2 of TREM2, exon 9 of PLD3, and exon 15 of UNC5C in Chinese Han population including 360 patients with AD and 400 control individuals. As a result, none of these 3 variants were identified in all subjects, however, 1 novel variant (p.A130V) in TREM2 and 4 novel variants (p.Q860H, p.T837K, p.S843G, and p.V836V) in UNC5C were detected in unrelated patients with late-onset AD. These findings suggest the 3 rare coding variants might not play an important role in AD risk in mainland China.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fosfolipasa D
/
Variación Genética
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Glicoproteínas de Membrana
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Receptores Inmunológicos
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Receptores de Superficie Celular
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Estudios de Asociación Genética
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Enfermedad de Alzheimer
Tipo de estudio:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Aged
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Neurobiol Aging
Año:
2014
Tipo del documento:
Article
País de afiliación:
China