Pld3 in alzheimer's disease: a modest effect as revealed by updated association and expression analyses
文献类型：期刊论文
| 作者 | Zhang, Deng-Feng1,3; Fan, Yu1,3; Wang, Dong1; Bi, Rui1; Zhang, Chen4; Fang, Yiru4; Yao, Yong-Gang1,2,3 |
| 刊名 | Molecular neurobiology
 |
| 出版日期 | 2016-08-01 |
| 卷号 | 53期号:6页码:4034-4045 |
| 关键词 | Alzheimer's disease Pld3 Meta-analysis Common variant Rare variant |
| ISSN号 | 0893-7648 |
| DOI | 10.1007/s12035-015-9353-5 |
| 通讯作者 | Yao, yong-gang(yaoyg@mail.kiz.ac.cn) |
| 英文摘要 | Alzheimer's disease (ad) is the most common form of dementia. numerous genome-wide association studies (gwass) have found several ad susceptibility common loci but with limited effect size. recent next-generation sequencing studies of large ad pedigrees had identified phospholipase d3 (pld3) p.v232m as the potentially functional rare variant with causal effect. however, four follow-up replication studies (brief communications arising on nature) questioned that pld3 v232m might not be so important in ad. in this study, we re-analyzed all public-available genetic (rare and common variants) and expression data of pld3, and screened coding variants within pld3 in probands of 18 han chinese families with ad, to clarify the exact involvement of pld3 in ad. two closest homologues of pld3, pld1 and pld2, were also analyzed to comprehensively understand the role of phospholipase d members in ad. we found that pld3 variant v232m was associated with ad risk in overall sample sets (similar to 40,000 subjects) with a modest to moderate effect size (odds ratio [or] = 1.53). our results also showed that common variants and mrna expression alterations of pld2 play a role in ad genetic risk and pathology. although we provided a systematic view of the involvement of pld3 in ad at the genetic, mrna expression, and protein levels, we could not define the exact causal or essential role of pld3 rare variants in ad based on currently available data. |
| WOS关键词 | PROTEIN-STRUCTURE ; SYSTEMATIC METAANALYSES ; STRUCTURE PREDICTION ; PHOSPHOLIPASE D1 ; GENE-EXPRESSION ; I-TASSER ; TREM2 ; VARIANTS ; SERVER ; BRAIN |
| WOS研究方向 | Neurosciences & Neurology |
| WOS类目 | Neurosciences |
| 语种 | 英语 |
| WOS记录号 | WOS:000379707600046 |
| 出版者 | HUMANA PRESS INC |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2374523 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Yao, Yong-Gang |
| 作者单位 | 1.Chinese Acad Sci, Kunming Inst Zool, Chinese Acad Sci & Yunnan Prov, Key Lab Anim Models & Human Dis Mech, Kunming 650223, Yunnan, Peoples R China 2.Chinese Acad Sci, CAS Ctr Excellence Brain Sci, Shanghai 200031, Peoples R China 3.Univ Chinese Acad Sci, Kunming Coll Life Sci, Kunming 650204, Yunnan, Peoples R China 4.Shanghai Jiao Tong Univ, Div Mood Disorders, Shanghai Mental Hlth Ctr, Sch Med, Shanghai 200030, Peoples R China |
| 推荐引用方式 GB/T 7714 | Zhang, Deng-Feng,Fan, Yu,Wang, Dong,et al. Pld3 in alzheimer's disease: a modest effect as revealed by updated association and expression analyses[J]. Molecular neurobiology,2016,53(6):4034-4045. |
| APA | Zhang, Deng-Feng.,Fan, Yu.,Wang, Dong.,Bi, Rui.,Zhang, Chen.,...&Yao, Yong-Gang.(2016).Pld3 in alzheimer's disease: a modest effect as revealed by updated association and expression analyses.Molecular neurobiology,53(6),4034-4045. |
| MLA | Zhang, Deng-Feng,et al."Pld3 in alzheimer's disease: a modest effect as revealed by updated association and expression analyses".Molecular neurobiology 53.6(2016):4034-4045. |
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来源：中国科学院大学
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