Bai Zhouxian, Kong Xiangdong
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):342-346. doi: 10.3760/cma.j.issn.1003-9406.2018.03.008.
To explore the genetic difference between mild cognitive impairment (MCI) and Alzheimer's disease (AD) through association analysis of whole genome sequencing data.
Sequence data of 168 AD patients, 380 MCI patients and 261 elderly controls from the Alzheimer's Disease Neuroimaging Initiative (ADNI) project was collected. The genotype and phenotype association was analyzed through genome wide association study (GWAS).
Sixteen single nucleotide polymorphisms (SNPs) were found to be associated with AD, and most of them were located on chromosome 19. This was consistent with the results of previous studies. Ten SNP loci were associated with MCI, and most of them were located on chromosome 9. The biological pathways associated with the SNP sets were calculated with a Plink Sets-based algorithm, and the results showed that the SNP loci sets associated with MCI and AD belonged to different biological pathways.
The strictly adjusted result indicated that the SNP loci significantly associated with MCI and AD are different, and the nominal significant associated SNP loci showed that steady MCI and AD shared just a limited number of loci. This indicated that MCI and AD are different diseases bearing distinct genetic risks.
通过对全基因组测序数据进行关联分析，探索轻度认知障碍（MCI）与阿尔茨海默病（AD）之间的遗传差异。
收集来自阿尔茨海默病神经影像倡议（ADNI）项目的168例AD患者、380例MCI患者和261例老年对照的序列数据。通过全基因组关联研究（GWAS）分析基因型与表型的关联。
发现16个单核苷酸多态性（SNP）与AD相关，其中大部分位于19号染色体上。这与先前研究的结果一致。10个SNP位点与MCI相关，其中大部分位于9号染色体上。使用基于Plink Sets的算法计算与SNP集相关的生物学途径，结果表明与MCI和AD相关的SNP位点集属于不同的生物学途径。
严格校正的结果表明，与MCI和AD显著相关的SNP位点不同，名义上显著相关的SNP位点表明稳定的MCI和AD仅共享有限数量的位点。这表明MCI和AD是具有不同遗传风险的不同疾病。
