Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.

Jiao, Bin; Liu, Xiaoyan; Tang, Beisha; Hou, Lihua; Zhou, Lin; Zhang, Fufeng; Zhou, Yafang; Guo, Jifeng; Yan, Xinxiang; Shen, Lu

Jiao, Bin; Liu, Xiaoyan; Tang, Beisha; Hou, Lihua; Zhou, Lin; Zhang, Fufeng; Zhou, Yafang; Guo, Jifeng; Yan, Xinxiang; Shen, Lu.

Afiliación

Jiao B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Liu X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Tang B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; State Key Laboratory of Medical Genetics, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Hou L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Zhou L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Zhang F; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Zhou Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Guo J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; State Key Laboratory of Medical Genetics, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Yan X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Shen L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; State Key Laboratory of Medical Genetics, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China. Electronic address: shenlu2505@126.com.

Neurobiol Aging ; 35(10): 2422.e9-2422.e11, 2014 Oct.

Article en En | MEDLINE | ID: mdl-24866402

ABSTRACT

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.

Asunto(s)

Enfermedad de Alzheimer/genética; Estudios de Asociación Genética; Variación Genética; Glicoproteínas de Membrana/genética; Fosfolipasa D/genética; Receptores de Superficie Celular/genética; Receptores Inmunológicos/genética; Anciano; Pueblo Asiatico/genética; China; Femenino; Humanos; Masculino; Persona de Mediana Edad; Receptores de Netrina; Factores de Riesgo

Palabras clave

Alzheimer's disease; PLD3; Risk factor; TREM2; UNC5C

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfolipasa D / Variación Genética / Glicoproteínas de Membrana / Receptores Inmunológicos / Receptores de Superficie Celular / Estudios de Asociación Genética / Enfermedad de Alzheimer Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Neurobiol Aging Año: 2014 Tipo del documento: Article País de afiliación: China

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