Abstract
The variations of SORCS1 gene may play potential key roles in late-onset Alzheimer’s disease (LOAD). To evaluate the relationship between the polymorphism of SORCS1 gene and LOAD in the ethnic Han Chinese, we conducted a case–control study to investigate the association between the single-nucleotide polymorphisms (SNPs) in intron 1 of SORCS1 and LOAD in Chinese Han population. Six reported SNPs in intron 1 of SORCS1 were analyzed by Snapshot, genotyping and haplotyping in 236 Chinese LOAD cases and 233 matched controls. The significant differences in frequencies of two SNPs (rs10884402, rs950809) were found between the two groups. In addition, haplotype analyses revealed that, in the LOAD group, the frequency of haplotypes C-C-G-T-C (alleles in order of rs17277986, rs6584777, rs10884402, rs7078098, rs950809 polymorphisms) were significantly higher (Psim<0.0001) while haplotype C-C-A-T-C, C-C-A-C-C, T-T-A-C-C were significantly lower (Psim<0.0001). Our data suggested that the genetic variation of the rs10884402 and rs950809 in intron 1 of SORCS1 was associated with the late-onset AD in the Chinese Han population.
Highlights
Alzheimer’s disease is the most common form of dementia, which is characterized by senile plaques, neurofibrillary tangles and neuron loss [1,2]
Single-point Association Analysis There were no deviations from Hardy–Weinberg equilibrium for all studied polymorphisms in late-onset Alzheimer’s disease (LOAD) and controls (P.0.05)
Small et al had suggested that amyloid precursor protein (APP) processing might be modulated by Vps10-containing proteins [28], which could mediate the interaction between the retromer complex and APP
Summary
Alzheimer’s disease is the most common form of dementia, which is characterized by senile plaques, neurofibrillary tangles and neuron loss [1,2]. In the early-onset family AD (EOFAD), three genes, amyloid precursor protein (APP), presenilin 1 (PS1), or presenilin 2 (PS2) [3,4] were demonstrated to directly influence Ab metabolism. In contrast to EOFAD, several risk genes such as apolipoprotein E (APOE), EPHA1, CD33 and MS 4A 6A [5,6,7] are involved in the pathogenesis and development of late-onset Alzheimer’s disease (LOAD), in which APOE is the most notable. One genome-wide association study (GWAS) in French has identified SORCS1 as a candidate gene for AD [21]. All these suggested that SORCS1 were associated with the prevalence of AD
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
