PDF(Pubmed)
Abstract：
UNASSIGNED: Overwhelming evidence points to that genetic factors contributing to the development of Alzheimer\'s disease (AD) and Parkinson\'s disease (PD). Genome-Wide Association Study (GWAS) has come a long way in the last decade. So far, a large number of GWAS studies have been published on neurological diseases and many other diseases, providing us with a wealth of genetic information and unique biological insights.
UNASSIGNED: Genomic DNA was extracted from both patients\' and controls\' peripheral blood samples utilizing the Blood Genome Extraction Kit. Single nucleotide polymorphisms (SNPs) were genotyped employing the enhanced multiple ligase detection reaction (iMLDR) technology.
UNASSIGNED: A case-control study was conducted, involving 211 AD patients, 508 PD patients (including 117 with dementia), and 412 healthy individuals. Age and sex stratification analysis revealed that rs871269/TNIP1 was associated with LOAD (p = 0.035), and rs5011436/TMEM106B was associated with AD in males (p = 0.044) in the genotype model. In the allele model, rs871269/TNIP1 was found to be associated with PD in the Chinese Han population (p = 0.0035, OR 0.741, 95% CI 0.559-0.983), and rs708382/GRN was identified as a risk factor for Parkinson\'s disease dementia (PDD) in the Chinese Han population (p = 0.004, odds ratio (OR) 0.354, 95% confidence interval (CI) 0.171-0.733). However, no significant associations with AD or PD were observed for the remaining four loci (rs113020870/AGRN, rs6891966/HAVCR2, rs2452170/NTN5, rs1761461/LILRB2) in terms of allele or genotype frequencies.
UNASSIGNED: This study identifies rs871269/TNIP1 as a potential risk factor for both LOAD and PD, rs708382/GRN as a risk factor for PDD, and rs5011436/TMEM106B as associated with AD in males when stratified by age.
UNASSIGNED: Genomic DNA was extracted from both patients\' and controls\' peripheral blood samples utilizing the Blood Genome Extraction Kit. Single nucleotide polymorphisms (SNPs) were genotyped employing the enhanced multiple ligase detection reaction (iMLDR) technology.
UNASSIGNED: A case-control study was conducted, involving 211 AD patients, 508 PD patients (including 117 with dementia), and 412 healthy individuals. Age and sex stratification analysis revealed that rs871269/TNIP1 was associated with LOAD (p = 0.035), and rs5011436/TMEM106B was associated with AD in males (p = 0.044) in the genotype model. In the allele model, rs871269/TNIP1 was found to be associated with PD in the Chinese Han population (p = 0.0035, OR 0.741, 95% CI 0.559-0.983), and rs708382/GRN was identified as a risk factor for Parkinson\'s disease dementia (PDD) in the Chinese Han population (p = 0.004, odds ratio (OR) 0.354, 95% confidence interval (CI) 0.171-0.733). However, no significant associations with AD or PD were observed for the remaining four loci (rs113020870/AGRN, rs6891966/HAVCR2, rs2452170/NTN5, rs1761461/LILRB2) in terms of allele or genotype frequencies.
UNASSIGNED: This study identifies rs871269/TNIP1 as a potential risk factor for both LOAD and PD, rs708382/GRN as a risk factor for PDD, and rs5011436/TMEM106B as associated with AD in males when stratified by age.
摘要：
■压倒性的证据表明，遗传因素有助于阿尔茨海默病（AD）和帕金森病（PD）的发展。在过去的十年中，全基因组关联研究（GWAS）取得了长足的进步。到目前为止,大量关于神经系统疾病和许多其他疾病的GWAS研究已经发表，为我们提供了丰富的遗传信息和独特的生物学见解。
使用血液基因组提取试剂盒从患者和对照外周血样本中提取基因组DNA。使用增强的多连接酶检测反应（iMLDR）技术对单核苷酸多态性（SNP）进行基因分型。
■进行了病例对照研究，涉及211名AD患者，508例PD患者（包括117例痴呆症），412个健康的人。年龄和性别分层分析显示rs871269/TNIP1与LOAD相关(p=0.035),在基因型模型中，rs5011436/TMEM106B与男性AD相关（p=0.044）。在等位基因模型中,rs871269/TNIP1在中国汉族人群中与PD相关（p=0.0035，OR0.741，95％CI0.559-0.983），rs708382/GRN被确定为中国汉族人群帕金森病痴呆(PDD)的危险因素(p=0.004,比值比(OR)0.354,95%置信区间(CI)0.171-0.733)。然而,其余四个基因座未观察到与AD或PD的显着关联（rs113020870/AGRN，rs6891966/HAVCR2，rs2452170/NTN5，rs1761461/LILRB2）在等位基因或基因型频率方面。
■本研究确定rs871269/TNIP1是LOAD和PD的潜在风险因素，rs708382/GRN作为PDD的危险因素，rs5011436/TMEM106B与男性AD相关，按年龄分层。
使用血液基因组提取试剂盒从患者和对照外周血样本中提取基因组DNA。使用增强的多连接酶检测反应（iMLDR）技术对单核苷酸多态性（SNP）进行基因分型。
■进行了病例对照研究，涉及211名AD患者，508例PD患者（包括117例痴呆症），412个健康的人。年龄和性别分层分析显示rs871269/TNIP1与LOAD相关(p=0.035),在基因型模型中，rs5011436/TMEM106B与男性AD相关（p=0.044）。在等位基因模型中,rs871269/TNIP1在中国汉族人群中与PD相关（p=0.0035，OR0.741，95％CI0.559-0.983），rs708382/GRN被确定为中国汉族人群帕金森病痴呆(PDD)的危险因素(p=0.004,比值比(OR)0.354,95%置信区间(CI)0.171-0.733)。然而,其余四个基因座未观察到与AD或PD的显着关联（rs113020870/AGRN，rs6891966/HAVCR2，rs2452170/NTN5，rs1761461/LILRB2）在等位基因或基因型频率方面。
■本研究确定rs871269/TNIP1是LOAD和PD的潜在风险因素，rs708382/GRN作为PDD的危险因素，rs5011436/TMEM106B与男性AD相关，按年龄分层。
