AUTHOR=Yan Huimin , Liu Minglei , Gao Yuan , Yuan Yanpeng , Liu Xiaojing , Wang Yangyang , Li Lanjun , Wang Qingzhi , Wang Yanlin , Shi Changhe , Xu Yuming , Yang Jing 

TITLE=Assessing the impact of novel risk loci on Alzheimer’s and Parkinson’s diseases in a Chinese Han cohort

JOURNAL=Frontiers in Neurology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1326692

DOI=10.3389/fneur.2024.1326692

ISSN=1664-2295

ABSTRACT=<sec><title>Background</title><p>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.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>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/<italic>TNIP1</italic> was associated with LOAD (<italic>p</italic> = 0.035), and rs5011436/<italic>TMEM106B</italic> was associated with AD in males (<italic>p</italic> = 0.044) in the genotype model. In the allele model, rs871269/<italic>TNIP1</italic> was found to be associated with PD in the Chinese Han population (<italic>p</italic> = 0.0035, OR 0.741, 95% CI 0.559-0.983), and rs708382/<italic>GRN</italic> was identified as a risk factor for Parkinson’s disease dementia (PDD) in the Chinese Han population (<italic>p</italic> = 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/<italic>AGRN</italic>, rs6891966/<italic>HAVCR2</italic>, rs2452170/<italic>NTN5</italic>, rs1761461/<italic>LILRB2</italic>) in terms of allele or genotype frequencies.</p></sec><sec><title>Conclusion</title><p>This study identifies rs871269/<italic>TNIP1</italic> as a potential risk factor for both LOAD and PD, rs708382/<italic>GRN</italic> as a risk factor for PDD, and rs5011436/<italic>TMEM106B</italic> as associated with AD in males when stratified by age.</p></sec>