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Objective To investigate the correlation between late-onset sporadic parkinson's disease(PD) and single nucleotide polymorphism (SNP) of autophagy-related genes 7 (Atg7) rs2606757 (6+1196A/T)in Han Chinese population.Methods Totally 124 patients with late-onset sporadic PD(the PD group)and 105 age-and sex-matched healthy individuals(the control group)were enrolled in this study.The SNP of Atg7 rs2606757 was detected by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).After gene sequencing for the detection of allele and genotype frequencies distribution and testing Hardy-Weinberg equilibrium,the differences in Atg7 rs2606757 genotype and allele frequency were compared between PD group and control group and between males and females.Results The frequency of AA genotype was statistically significantly lower in the PD group[34.7％(43/124)]than in the control group[53.3 ％ (56/105)](x2 =8.063,P=0.005,OR =0.465,95％ CI:0.273-0.791).In men's PD group versus men's control group,AA genotype of the Atg7 rs2606757 showed a lower frequency for late-onset sporadic PD[33.3 ％ (23/69)vs.53.2 ％ (33/62),x2 =5.280,P =0.022,OR =0.439,95 ％ CI:0.217-0.891].Logistic regression analysis indicated that the AA genotype frequency distribution of Atg7 rs2606757 showed a significant difference between PD and control groups (OR =2.210,95％ CI:1.289-3.789,P =0.004).Conclusions The higher frequence of AA genotype at Atg7 rs2606757 only in males might be associated with the decreased risk of late-onset sporadic PD.
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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.
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Objective To investigate the association between rs14016 (19 +31C/T) polymorphisms of autophagy-related genes 7 (Atg7) and Parkinson's disease (PD) in Han population in China.Methods Totally 123 patients with Parkinson's disease (PD) (case group) and 101 synchronized health controls (control group) were selected from Chinese Han population between January 2013 and July 2016.A single nucleotide polymorphism (SNP) of rs14016 of Atg7 gene was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.After gene sequencing for genotyping and detection of alleles,genotype and allele frequency distributions were analyzed in the two groups.Results The frequency distributions of TT genotype and T alleles were 17.9％ (22/123) and 41.1％ (101/246) in the case group,and 5.9％ (6/101) and 31.2 ％ (63/202) in the control group,respectively.The difference in genotype frequencies between the two groups was statistically significant (x2 =7.236,P =0.007,OR =3.01,95 ％ CI:1.27-7.14).The frequencies of T and C alleles were 41.1％ (101/246) and 58.9％ (145/246) respectively in the case group,and 31.2％ (63/202) and 68.8％ (139/202) in the control group (x2 =4.655,P=0.031,OR=1.32,95 ％CI:1.02-1.70),with the statistically significant difference in the allele.The TT genotype of rs14016 showed statistical significance between the two groups by logistic regression analysis (OR=3.40,95％CI:1.32-8.80,P=0.012).Conclusions The T allele and TT genotype at the rs14016 of Atg7 gene might be associated with PD,and might increase the risk for suffering from PD,which is worthy of further fully researches.
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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.
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Objective To investigate the correlation between G753A and C1040T polymorphisms in the gene encoding region of thrombin-activatable fibrinolysis inhibitor (TAFI )and cerebral infarction in patients with cerebral infarction in Chinese Han population. Methods C1040T and G753A poly-morphisms in the TAFI gene encoding region in 130 patients with cerebral infarction and 118 healthy subjects (control group)were analyzed retrospectively and they were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP ). Results The GG genotyping of the TAFI gene G753A polymorphism in the cerebral group was 41. 5%(n=54)and the A allele carriers were 58. 5%(n=76),while those in the control group were 44. 9%(n=53)and 55. 1%(n=65)respectively. There were no significant differences in the GG genotyping of TAFI gene G753A polymorphism and the A allele carriers between the cerebral infarction group and the control group (χ2 =0. 288,P=0. 592). In the cerebral infarction group,the CC genotyping of C1040T polymorphism was 50. 0%(n=65)and T allele carriers were 50. 0%(n=65),while those in the control group were 51. 7%(n=61)and 48. 3%(n=57)respectively. There were no significant differences in the GG genotyping of C1040T polymorphism and the T allele carriers between the two groups (χ2 =0.071,P =0.790 ). Multivariate logistic regression analysis showed that G753A and C1040T single nucleotide polymorphisms (GA or AA genotype)in the TAFI gene encoding region were not the independent risk factors for cerebral infarction. Conclusion There are no significant differences in the correlation between the G753A and C1040T polymorphisms in the TAFI gene encoding region and cerebral infarction. They are not the independent risk factors for the onset of cerebral infarction.
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@# Objective To investigate the correlations of the single nucleotide polymorphism (SNP) 344-35C/T of growth arrest-specificgene 6 (GAS6) gene and cerebral infarction in Han population in the western Guangdong province. Methods The restriction fragment lengthpolymorphism (PCR-RFLP) was used to determine the 344-35C/T polymorphism in the intron region of GAS6 gene in the case group (n=180) and healthy control group (n=150). Results There was no significant association between GAS6-344-35C/T and cerebral infarction (P<0.05). After stratified by gender in chi-square test in women population, the frequency of C allele was significantly higher in cases (77.9%)than that in controls (66.4%) (P=0.040); The frequency of the CC genotype was significantly higher in cases (61.8%) than that in controls(43.1%) (P=0.036). Conclusion In Han women in western Guangdong province, C allele of GAS6-344-35C/T polymorphism is a risk factorof cerebral infarction, CC genotype is a susceptible genotype of cerebral infarction.
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@#Objective To evaluate the association between the single-nucleotide polymorphism (SNP) of the 5-59A/G (rs2241027) of Htra2 gene and Parkinson's disease in Han population of the western GuangDong province. MethodsThe restriction fragment length polymorphism (PCR-RFLP) was used to determine the 5-59A/G polymorphism in the intron region of Htra2 gene in the case group (n=56) and healthy control group (n=109). ResultsA allele frequency of 5-59 A/G in cases (46.4%) was trended to more than that in controls (36.7%) (P=0.073), as well as the AA genotyping frequency (21.4% vs 11.0%, P=0.072). For the male, the frequency of AA genotype was significantly more in cases (25.7%) than that in controls (10.3%） (P=0.041), and the frequency of A allele was trended to more in cases (48.6%) than in controls (34.6%) (P=0.051). ConclusionA allele and AA genotype of the 5-59A/G (rs2241027) of Htra2 gene may increase the risk of suffering from Parkinson's disease, especially for males.