Department of Neurology, Qingdao Municipal Hospital, Qingdao University, China.
Clinical Skills Training Center, Qingdao Municipal Hospital, Qingdao University, China.
J Alzheimers Dis. 2018;64(1):55-59. doi: 10.3233/JAD-180205.
Next-generation sequencing studies had reported that a rare coding variant p.V232M in PLD3 was associated with Alzheimer's disease (AD) and a two-fold increased AD risk in European cohorts. To test whether coding region variants of PLD3 were associated with AD in a large Han Chinese cohort, we performed sequencing to analyze all exons of PLD3, and demonstrated that rare variants p.I163M and c.1020-8G>A conferred considerable risk of late-onset AD (LOAD) in our cohort. Meanwhile, the previously reported p.V232M variant was identified in our AD group. These findings indicate that rare variants of PLD3 may play an important role in LOAD in northern Han Chinese.
下一代测序研究报告称，PLD3 中的罕见编码变异 p.V232M 与阿尔茨海默病 (AD) 相关，并使欧洲队列的 AD 风险增加两倍。为了在一个大型汉族人群中检验 PLD3 的编码区变异是否与 AD 相关，我们进行了测序以分析 PLD3 的所有外显子，并证明罕见变异 p.I163M 和 c.1020-8G>A 在我们的队列中赋予了晚发性 AD（LOAD）的相当大的风险。同时，我们在 AD 组中发现了先前报道的 p.V232M 变异。这些发现表明 PLD3 的罕见变异可能在汉族北方人群的 LOAD 中发挥重要作用。
