Résumé
Objective To explore the association of ubiquitin-specific proteases 24 (USP24) gene polymorphisms with susceptibility to sporadic Parkinson's disease (PD) in the Han Guangdong population. Methods From August, 2006 to January, 2014, single nucleotide poly-morphisms (SNPs) of rs12138592 and rs6671533 in the intron region of USP24 were genotyped in 200 patients with sporadic PD and 200 healthy controls using the SNaPshot technique. Results There was significant difference in the allele and genotype frequency of rs12138592 between the patients and the controls (P0.05). Conclusion The SNP of rs12138592 in the intron region of USP24 is associated with the susceptibility to sporadic PD in the Han Guangdong population, and the A allele may contribute a protective roles to PD.
Résumé
Objective To investigate the relationship between cerebral infarction (CI) and the single-nucleotide polymorphisms (SNPs) of rs11833579G/A and rs4980959C/A of NINJ2 gene in Han population of the Western Guangdong province in China. Methods Genotype and allele frequency of rs11833579G/A and rs4980959C/A were analyzed in 278 cerebral infarction patients and 120 healthy controls. Re-sults There was insignificant difference in frequencies of genotypes and allele in two polymorphisms (rs11833579 G/A and rs4980959C/A) of NINJ2 gene between CI and control groups (P>0.05). AA genotype frequency of rs4980959C/A was more in patients with small-artery oc-clusion (SAA) than in the control group (18.3%vs 9.2%, P=0.041), while the A allele frequency was more in the patients with SAA than in the control group (35.4%vs 46.1%, P=0.019). Logistic regression analysis indicated that AA genotypes of rs4980959C/A was a risk factor for SAA over G allele carriers (OR=4.012, 95%CI:1.209~14.939, P=0.027). Conclusion NINJ2 gene 5' upstream untranslated region SN-Prs11833579G/A polymorphism does not associate with the risk of ischemic stroke. NINJ2 gene 5' upstream untranslated region SN-Prs4980959C/A A allele is a risk factor for SAA, AA genotype is a susceptible genotype for SAA.
Résumé
@#Objective To investigate the relationship between cerebral infarction (CI) and the single-nucleotide polymorphisms (SNPs) of rs11833579G/A and rs4980959C/A of NINJ2 gene in Han population of the Western Guangdong province in China. Methods Genotype and allele frequency of rs11833579G/A and rs4980959C/A were analyzed in 278 cerebral infarction patients and 120 healthy controls. Results There was insignificant difference in frequencies of genotypes and allele in two polymorphisms (rs11833579 G/A and rs4980959C/A) of NINJ2 gene between CI and control groups (P>0.05). AA genotype frequency of rs4980959C/A was more in patients with small-artery occlusion (SAA) than in the control group (18.3% vs 9.2%, P=0.041), while the A allele frequency was more in the patients with SAA than in the control group (35.4% vs 46.1%, P=0.019). Logistic regression analysis indicated that AA genotypes of rs4980959C/A was a risk factor for SAA over G allele carriers (OR=4.012, 95%CI: 1.209~14.939, P=0.027). Conclusion NINJ2 gene 5' upstream untranslated region SNPrs11833579G/ A polymorphism does not associate with the risk of ischemic stroke. NINJ2 gene 5' upstream untranslated region SNPrs4980959C/ AA allele is a risk factor for SAA, AA genotype is a susceptible genotype for SAA.