1.Association of NINJ2 Gene 5' Upstream Single-nucleotide Polymorphisms with Cerebral Infarction
Liqiong LAI ; Wenchuan XIAN ; Yusun CHEN
Chinese Journal of Rehabilitation Theory and Practice 2015;21(3):315-319
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.
2.Association of Intron rs12138592 A/G polymorphism of Ubiquitin Specific Proteases (USP24) Gene with Parkinson Disease
Zhijun LIN ; Yusen CHEN ; Wenchuan XIAN ; Jun CHEN ; Wangtao ZHONG ; Zhien XU ; Yongqian XING ; Bin ZHAO
Chinese Journal of Rehabilitation Theory and Practice 2011;17(1):56-58
ObjectiveTo investigate the relationship between Parkinson disease (PD) and intron rs12138592 A/G polymorphism of ubiquitin specific proteases (USP24) gene in Han population of the Western Guangdong province in China. Methods81 PD cases and 100 ethnically matched controls were investigated USP24 gene rs12138592 A/G polymorphism with polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). ResultsThe incidence of GG genotype was 77.8% in the cases and 62.0% in the controls (χ2=5.213,P=0.022), and the G allele was 88.3% in the cases, 79.5% in the controls (χ2=4.980,P=0.026). ConclusionThe G allele and GG genotype of USP24 gene rs12138592 A/G polymorphism can increase the risk of suffering from PD.
3.Relationship between Promoter Polymorphism-438 A/G of Thrombin-activatable Fibrinolysis Inhibitor Gene and Cerebral Infarction
Yusen CHEN ; Zhiliang ZENG ; Zhijun LIN ; Wenchuan XIAN ; Wangtao ZHONG ; Bin ZHAO ; Zhien XU
Chinese Journal of Rehabilitation Theory and Practice 2012;18(5):406-408
Abstract: Objective To research the relationship between promoter polymorphism-438 A/G of thrombin-activatable fibrinolysis inhibitorgene (TAFI-438 A/G) and atherosclerotic cerebral infarction (ACI) in Chinese Han population. Methods TAFI-438A/G genotypes andtheir allele frequencies were identified with the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) in225 ACI patients and 184 healthy controls. Results There was no significant difference of TAFI-438A/G polymorphism between ACI groupand control group. Stratified by gender, in males, the incidence of A allele was 28.6% in ACI group, and 20.6% in control (P=0.039); of theAA genotype was 9.0% in ACI group, and 1.9% in control (P=0.019). But no significant difference was found in females. ConclusionTAFI-438A/G polymorphism is associated with the risk of ACI in males, that AA genotype may increase the risk of ACI.
4.Association between Ubiquitin-specific Proteases 24 Gene Polymorphisms and Sporadic Parkinson's Disease in the Han Guangdong Population
Zhijun LIN ; Yusen CHEN ; Wangtao ZHONG ; Zhou LIU ; Wenchuan XIAN ; Xiaoyi CHEN ; Bin ZHAO
Chinese Journal of Rehabilitation Theory and Practice 2017;23(3):345-348
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 (P<0.01), and no significant difference was found in the allele and genotype frequency of rs6671533 (P>0.05). 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.