天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (4): 381-385.doi: 10.11958/20180025

• 临床研究 • 上一篇    下一篇

KIBRA基因多态性影响脑功能连接的fMRI研究

张宁男楠，张璋△   

  1. 摘要：目的 探讨肾脑表达蛋白（KIBRA）基因rs17070145多态性对认知功能评分及脑功能连接密度（FCD）的影 响，为建立早期识别阿尔茨海默病（AD）风险人群的遗传和影像学指标提供依据。方法 于2015年3—8月连续收集 天津地区健康汉族青年人，纳入研究的267例研究对象均具有完整的行为学、遗传学资料和磁共振影像学数据。检 测所有受试者的KIBRA C/T等位基因，并分成C基因携带者（TC+CC，112例）和TT纯合子携带者（155例）2组。采用 中国修订版的韦氏记忆量表和威斯康星卡片分类试验中的持续性错误百分比来评估记忆及执行功能。对静息态 fMRI进行预处理，计算全脑FCD指标并比较不同基因型组间差异。结果 不同基因型组间韦氏记忆量表中的代表 长时记忆分测验差异有统计学意义（P=0.05）。不同基因型组间年龄、性别、受教育年限和持续性错误百分比差异无 统计学意义（P＞0.05）。右侧枕中回为组间FCD差异的脑区，与TT纯合子携带者相比，C基因携带者的FCD值增高 （P＜0.05）。结论 KIBRA基因多态性影响天津地区汉族青年人群静息状态下枕叶的脑活动情况，C基因携带者脑功 能活性的增加可能是对长时记忆表现差的一种代偿。
  • 收稿日期:2018-01-05 修回日期:2018-02-10 出版日期:2018-04-15 发布日期:2018-04-15
  • 通讯作者: 张璋 E-mail:filea1249@sina.com
  • 基金资助:
    国家自然科学基金;国家自然科学基金

The effects of KIBRA genetic polymorphism on brain functional connectivity: a fMRI study

ZHANG Ning-nan-nan, ZHANG Zhang△   

  1. Department of Radiology, Tianjin Medical University General Hospital, Tianjin 300052, China △Corresponding Author E-mail: filea1249@sina.com
  • Received:2018-01-05 Revised:2018-02-10 Published:2018-04-15 Online:2018-04-15
  • Contact: Zhang Zhang E-mail:filea1249@sina.com

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摘要： 摘要：目的 探讨肾脑表达蛋白（KIBRA）基因rs17070145多态性对认知功能评分及脑功能连接密度（FCD）的影 响，为建立早期识别阿尔茨海默病（AD）风险人群的遗传和影像学指标提供依据。方法 于2015年3—8月连续收集 天津地区健康汉族青年人，纳入研究的267例研究对象均具有完整的行为学、遗传学资料和磁共振影像学数据。检 测所有受试者的KIBRA C/T等位基因，并分成C基因携带者（TC+CC，112例）和TT纯合子携带者（155例）2组。采用 中国修订版的韦氏记忆量表和威斯康星卡片分类试验中的持续性错误百分比来评估记忆及执行功能。对静息态 fMRI进行预处理，计算全脑FCD指标并比较不同基因型组间差异。结果 不同基因型组间韦氏记忆量表中的代表 长时记忆分测验差异有统计学意义（P=0.05）。不同基因型组间年龄、性别、受教育年限和持续性错误百分比差异无 统计学意义（P＞0.05）。右侧枕中回为组间FCD差异的脑区，与TT纯合子携带者相比，C基因携带者的FCD值增高 （P＜0.05）。结论 KIBRA基因多态性影响天津地区汉族青年人群静息状态下枕叶的脑活动情况，C基因携带者脑功 能活性的增加可能是对长时记忆表现差的一种代偿

关键词: 多态性, 单核苷酸, 磁共振成像, KIBRA, 功能连接

Abstract: Abstract: Objective To investigate the effect of renal brain expression protein (KIBRA) gene rs17070145 polymorphism on cognitive function score and brain functional connection density (FCD), and provide genetic and imaging indices for early identification of Alzheimer’s disease (AD). Methods Healthy Han young people in Tianjin were continuously collected from March 2015 to August 2015. A total of 267 participants with complete behavioral, genetic data and magnetic resonance imaging data, were recruited in this study. The KIBRA C/T alleles were genotyped. Participants were divided into C-allele carrier group (TC＋CC) and TT homozygous carrier group. The Chinese revised Wechsler memory scale and perseverative responses errors percentage in Wisconsin card sorting test were used to assess memory and executive function. After routing preprocessing steps for the resting state, the global FCD value was calculated, and then the differences between genotype groups were compared. Results There was a marginal difference in long term memory between different genotype groups (P=0.05). There were no significant differences in age, sex, education years and perseverative response error percentage between different genotype groups (P＞0.05). Compared to TT homozygous carrier group, the global FCD value in right occipital gyrus was increased in C-allele carrier group (P＜0.05). Conclusion The brain activity in occipital lobe could be affected by KIBRA gene polymorphism in Tianjin Han young people. The increasement of brain function activity in occipital lobe of C allele carriers may be a compensation for the poor performance of long term memory

Key words: polymorphism, single nucleotide, magnetic resonance imaging, KIBRA, functional connectivity