P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population

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	P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population
	Ma, Qilin ; An, Xingkai ; Li, Zhiming ; Zhang, Huanjing ; Huang, Wenqing ; Cai, Liangliang ; Hu, Peng ; Lin, Qing ; Tzeng, Chi-Meng ; Li ZM(李志明)
刊名	http://dx.doi.org/10.1186/1744-9081-9-19
	2013
关键词	NF-KAPPA-B ALPHA-SYNUCLEIN GENE CROHNS-DISEASE NOD2/CARD15 GENE RISK-FACTOR MUTATIONS INFLAMMATION LRRK2 VARIANTS NEURODEGENERATION
英文摘要	Fujian Province Natural Science Foundation Association of glucocerebrosidase gene mutations; Parkinson's disease in Chinese Han patients [2009D001]; Fujian Province Health Department Youth Research Projects Association of glutamate transporter gene and patients; Parkinson's disease [2009-2-72]; Fujian Province Science and Technology Department Key Project of The Screening of Susceptibility Gene in Parkinson's Disease; Platform Establishment of Molecular Diagnosis [2012D062]; Background: The cause of almost all cases of Parkinson's disease (PD) remains unknown. Recent years have seen an explosion in the rate of discovery of genetic defects linked to PD. Different racial and geographical populations may have different distributions of genetic variants. Methods: In the current study, we screened the following genetic variants, including some rare mutations and single nucleotide polymorphisms (SNPs), in a pedigree and cases-controls. To best of our knowledge, we first screened these variants known to be associated with neurodegeneration disease, E46K (rs104893875) in SNCA, A1442P in LRRK2, IVS9 in PARK2, A350V in SLC41A1, P268S (rs2066842), R702W (rs2066844), G908R (rs2066845), 1007fs (rs2066847) in NOD2 and G2385R (rs34778348) in LRRK2 from southern China population. Genotyping was performed by jointly using primers overlapping polymerase chain reaction (PCR) site-directed mutagenesis, restriction fragment length polymorphism (RFLP), and capillary electrophoresis (CE). Results: We didn't discover above 9 variants in the family members of the pedigree. Furthermore, of 237 patients with sporadic Parkinson's disease and 190 controls, no heterozygosity or homozygosity were found from E46K, A1442P, A350V, R702W, G908R, or 1007fs but heterozygosity onto G2385R, IVS9, and P268S. No significant difference between cases and controls was found in both allele frequency (P = 0.572) and genotype frequency (P = 0.348) of IVS9. However, significant differences in genotype frequency (P = 0.009) of G2385R were consistent with prior observation. Eight patients with Parkinson's disease (2 women and 6 men are over the age of 50 years at onset of PD) carried the P268S heterozygous variation in NOD2. There was no heterozygosity or homozygosity of P268S in the controls. Genotype frequency of P268S (P = 0.0450) had significant differences. Conclusions: Our results suggested that the P268S variant in NOD2 might be a risk factor for susceptibility to sporadic Parkinson's disease in Chinese populations. It also implied that the inflammatory response may play a role in PD.
语种	英语
出版者	BIOMED CENTRAL LTD
内容类型	期刊论文
源URL	[http://dspace.xmu.edu.cn/handle/2288/91902]
专题	物理技术－已发表论文
推荐引用方式 GB/T 7714	Ma, Qilin,An, Xingkai,Li, Zhiming,et al. P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population[J]. http://dx.doi.org/10.1186/1744-9081-9-19,2013.
APA	Ma, Qilin.,An, Xingkai.,Li, Zhiming.,Zhang, Huanjing.,Huang, Wenqing.,...&李志明.(2013).P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population.http://dx.doi.org/10.1186/1744-9081-9-19.
MLA	Ma, Qilin,et al."P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population".http://dx.doi.org/10.1186/1744-9081-9-19 (2013).