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The role of frontotemporal dementia associated genes in patients with Alzheimer's disease.
Xiao, Xuewen; Yuan, Zhenhua; Guo, Lina; Liao, Xinxin; Zhou, Yafang; Zhang, Weiwei; Zhou, Lu; Wang, Xin; Liu, Xixi; Liu, Hui; Wang, Junling; Li, Jinchen; Shen, Lu; Jiao, Bin.
Afiliación
  • Xiao X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Yuan Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Guo L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Liao X; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Chan
  • Zhou Y; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Chan
  • Zhang W; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neuro
  • Zhou L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Wang X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Liu X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Liu H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Wang J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Chang
  • Li J; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
  • Shen L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Chang
  • Jiao B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Chang
Neurobiol Aging ; 107: 153-158, 2021 11.
Article en En | MEDLINE | ID: mdl-34172279
Alzheimer's disease (AD) and frontotemporal dementia (FTD) overlap clinically and pathologically. However, the role of FTD-associated genes in patients with AD remained unclear. To explore the relationship between FTD-associated genes and AD risk, we investigated 14 FTD-associated genes via targeted next-generation sequencing panel or whole-genome sequencing in a total of 721 AD patients and 1391 controls. Common variant-based association analysis and gene-based association test of rare variants were performed by PLINK 1.9 and Sequence Kernel Association Test-Optimal (SKAT-O test) respectively. As a result, 2 common variants, UBQLN1 rs1044175 (p value = 2.76 × 10-4) and MAPT rs2258689 (p value = 5.71 × 10-4), differed significantly between AD patients and controls. Additionally, gene-based analysis aggregating rare variants demonstrated that HNRNPA1 reached statistical significance in the SKAT-O test (p value = 2.24 × 10-3). Protein-protein interaction analysis showed that UBQLN1, MAPT, and HNRNPA1 interacted with proteins encoded by well-recognized AD-associated genes. Our study indicated that UBQLN1, MAPT, and HNRNPA1 are implicated in the pathogenesis of AD in the mainland Chinese population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas tau / Proteínas Adaptadoras Transductoras de Señales / Demencia Frontotemporal / Estudios de Asociación Genética / Enfermedad de Alzheimer / Proteínas Relacionadas con la Autofagia / Ribonucleoproteína Nuclear Heterogénea A1 Tipo de estudio: Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Neurobiol Aging Año: 2021 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas tau / Proteínas Adaptadoras Transductoras de Señales / Demencia Frontotemporal / Estudios de Asociación Genética / Enfermedad de Alzheimer / Proteínas Relacionadas con la Autofagia / Ribonucleoproteína Nuclear Heterogénea A1 Tipo de estudio: Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Neurobiol Aging Año: 2021 Tipo del documento: Article País de afiliación: China