Association of endothelial lipase genetic polymorphism with lacunar infarction in a Chinese population.
ABSTRACT: INTRODUCTION: This study sought to investigate the correlation between the single nucleotide polymorphism (SNP) rs9958947C>T in the endothelial lipase (LIPG) gene promoter and lacunar infarction in the Han population in China. MATERIALS AND METHODS: A case-control method was applied in this study, which included 378 patients with lacunar infarction in the patient group and 404 healthy individuals who received a routine physical examination in the control group. The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods were used to detect the SNP (rs9958947) in the LIPG promoter for the two groups. RESULTS: The T allele frequency (51.32%) and CT+TT genotype frequency (77.78%) in the patient group were significantly higher than those in the control group (43.32% and 66.34%, respectively). Comparison of the T allele frequency and CT+TT genotype frequency between the two groups showed statistically significant differences. Logistic regression analysis showed that the T allele, male, smoking, hypertension, hyperlipidemia and diabetes were independent risk factors for lacunar infarction in the Han population in China. CONCLUSION: Therefore, we concluded that SNP rs9958947 in the LIPG gene promoter is associated with the incidence of lacunar infarction.
Project description:The aim of present study was to investigate the relationship between nerve injury-induced protein 2 (NINJ2) gene polymorphism and stroke in Chinese Han population. Fifty-two patients with large-artery atherosclerosis (LAA) infarction, 85 patients with small-artery occlusion lacunar (SAO) infarction, 50 patients with intracerebral hemorrhage (ICH) and 66 controls were included. Genotypes and alleles frequencies of the two single nucleotide polymorphisms (SNPs) of NINJ2 among different groups were analyzed and compared. In regard to rs12425791, the frequencies of the AG and AA+AG genotypes of the LAA and SAO groups were significantly higher than those in the control group; the frequency of the A allele of the SAO group was significantly higher than that of the control group. In regard to rs11833579, there were not any significant differences between the case and the control groups. The SNP rs12425791 is significantly associated with ischemic stroke, and the A allele increases the susceptibility to stroke. The SNP rs11833579 is not significantly associated with stroke.
Project description:The objective of the present study was to detect the association of the rs7934205 single nucleotide polymorphism (SNP) near the Suppressor of Ty, domain containing 1 gene (SPTY2D1) and serum lipid levels between males and females in the Mulao and Han populations. Genotyping of SPTY2D1 rs7934205 SNP was performed in 933 of Mulao and 865 of Han participants using polymerase chain reaction and restriction fragment length polymorphism. The T allele frequency was different between Mulao males and females (23.2% vs. 27.9%, P = 0.018). The genotype and allele frequencies were also different between Han males and females (P = 0.020 and P = 0.004; respectively). Serum levels of apolipoprotein (Apo) A1 in Mulao males; and total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), ApoA1 and ApoB in Mulao females were different between the CC and CT/TT genotypes (P < 0.05). Serum TC, ApoB levels in Han males, and ApoB levels in Han females were different between the CC and CT/TT genotypes (P < 0.05). The subjects with CT/TT genotype in both Mulao and Han males and females have more favorable lipid profiles than those with CC genotype. These findings suggest that the association between the SPTY2D1 rs7934205 SNP and serum lipid levels might have ethnic- and/or sex-specificity.
Project description:Polymorphisms in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene are associated with severe hypercholesterolemia and stroke. Here, we investigated the relationship between single nucleotide polymorphisms in PCSK9 and stroke in 237 patients with lacunar infarction in the Uygur and Han populations in Xinjiang Uygur Autonomous Region of China. Using the SNaPshot single-base terminal extension method, four PCSK9 gene polymorphisms were analyzed. We found a significantly strong relationship between the PCSK9 rs17111503 (G > A) polymorphism and increased susceptibility to lacunar infarction by variant homozygote comparison, and using the dominant and recessive models in the Han population but not in the Uygur population. Low triglyceride levels were found in AA carriers (rs17111503, G > A) in the Han population but not in the Uygur population. Association analysis revealed that the rs17111503 (G > A) polymorphism was not significantly associated with smoking, alcohol drinking, history of hypertension or diabetes in the Han or Uygur lacunar infarction patients. rs11583680, rs483462 and rs505151 were not associated with risk of lacunar infarction in the Han or Uygur populations. Our findings suggest that the PCSK9 rs17111503 (G > A) polymorphism is associated with susceptibility to lacunar infarction in the Han population but not in the Uygur population.
Project description:This study aimed to examine the association of rs1333040 SNPs and several risk and environmental factors with acute myocardial infarction (AMI). The association of rs1333040 single nucleotide polymorphisms (SNPs) within the cyclin-dependent kinase inhibitor 2B antisense RNA1 (CDKN2B-AS1) gene with AMI has been confirmed in some European populations. However, at the time this study was initiated, no rs1333040 SNPs had been associated with AMI in Chinese individuals. Genotypes of rs1333040 were determined in 334 AMI patients and 334 healthy controls from a Chinese Han population by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), and then confirmed by direct sequencing. The TT genotype of rs1333040 was positively correlated with AMI risk (P < 0.001). The frequency of the C allele of rs1333040 in patients with diagnosis time (DT) > 12 h was lower than that in patients with shorter DT (P < 0.05), with no differences in typical symptoms, serious complications, and infarction location (P > 0.05 for each). There were interactions between the rs1333040 SNP genotype (TT, TC, or CC), and patients who smoked ? 20 cigarettes/day (P < 0.017). The rs1333040 TT genotype was positively correlated with the risk of AMI. For the first time, we discovered that the C allele of rs1333040 was significantly correlated with DT ? 12 h of AMI. Also, the interaction between the minor C allele of rs1333040 and smoking appears to increase the risk of AMI.
Project description:The endothelial lipase gene (LIPG) is one of the important genes in the metabolism of high-density lipoprotein cholesterol (HDL-C) and may be involved in the pathogenesis of coronary artery disease (CAD).To investigate the relationship between the common single nucleotide polymorphisms (SNPs) 584C/T (rs2000813) and -384A/C (rs3813082) in the LIPG gene and CAD, allele and genotype frequencies of the two SNPs were analysed in 287 Chinese patients with CAD and 367 controls by the high-resolution melting curve (HRM) method.For 584C/T, no significant difference in polymorphic distribution was observed between patients and controls. However, the frequencies of allele C (20.2% vs 15%, p=0.013, OR=1.437, 95% CI 1.078 to 1.915) at -384A/C were significantly increased in patients compared with controls. Haplotype analysis also showed that haplotype CT (12.37% vs 8.72%, p=0.035, OR=1.478, 95% CI 1.034 to 2.112) was significantly higher in patients compared with controls.These results suggested that the SNP -384A/C in the LIPG gene may be associated with risk for CAD and the LIPG gene may play a role in CAD in the Han Chinese.
Project description:OBJECTIVE:To investigate the association between two single nucleotide polymorphisms (SNPs), rs9390754 and rs4840200, in the glutamate receptor 2 (GRIK2) gene and the genetic susceptibility to epilepsy (EP) in the Han population in Central China. METHODS:A case-control study was performed in 284 EP children (including 132 children with refractory epilepsy) and 315 normal children from Central China. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the genotypes of the two SNPs rs9390754 and rs4840200. The genotype frequency was compared between groups. RESULTS:The frequencies of GG, GA, and AA genotypes of SNP rs9390754 showed a significant difference between the EP and normal control groups (P=0.016). The allele frequency also showed a significant difference between the two groups (P=0.002). The frequencies of CC, CT, and TT genotypes of SNP rs4840200 and allele frequency showed no significant differences between the two groups. The C allele frequency of SNP rs4840200 in the refractory EP subgroup was significantly higher than in the non-refractory EP subgroup (OR=1.435, 95% CI: 1.021-2.016, P=0.037). CONCLUSIONS:In the Han population in Central China, the polymorphisms of SNP rs9390754 in the GRIK2 gene may be associated with EP susceptibility, and the C allele of SNP rs4840200 may be a genetic risk factor for the development of drug resistance in children with EP.
Project description:The present study was designed to explore the interrelationship between single nucleotide polymorphisms (SNP) of the tumor necrosis factor superfamily (TNFSF) and its respective receptor superfamily (TNFRSF) genes and Behcet's disease (BD) and Vogt-Koyanagi-Harada syndrome (VKH) in Han Chinese. The study sample included 796 patients with BD, 792 patients with VKH syndrome, and 1604 healthy controls. The genotyping of 35 SNPs was performed by MassARRAY platform (Sequenom), iPLEX Gold Assay, PCR-restriction fragment length polymorphism assay and TaqMan SNP assay. The mRNA expression levels of TNFSF4, TNFSF8 and TNFSF15 were analyzed by real-time PCR. The IL-6 and TNF-? expression levels were measured by ELISA. The A allele and AA genotype frequencies of TNFSF4/rs1234313 were significantly increased, and the GG genotype frequency of rs1234313 was decreased in subjects with BD. Significantly lower frequencies of the C allele and the CC genotype and higher frequencies of the TT and CT genotypes of TNFSF15/rs4246905 were observed in BD patients. A decreased frequency of the A allele of TNFSF8/rs7028891 was observed in BD patients. The expression of TNFSF15 in CT carriers was significantly higher than that in CC/TT individuals. Increased IL-6 expression and TNF-? production were found in the TNFSF15 CT carriers compared with the CC/TT genotype carriers. No significant differences were observed between the VKH patients and controls. This study indicates that TNFSF4, TNFSF15 and TNFSF8 may participate in the susceptibility to BD among Han Chinese.
Project description:OBJECTIVE:The correlation of the BRG1 rs1122608 single nucleotide polymorphism (SNP) with acute myocardial infarction (AMI) has been reported in American and European populations. However, whether rs1122608 acts as a protective factor or a risk factor for AMI is controversial. In this study, we aimed to detect the associations between rs1122608 and the clinical characteristics of AMI as well as susceptibility, gene-environment interactions, and risk factors for AMI in a Chinese Han population. METHODS:In this study, 300 AMI patients and 300 healthy controls of Chinese Han ancestry were enrolled. PCR-RFLP was used to genotype rs1122608 SNPs. Genotypic and allelic frequencies of rs1122608 were compared between the AMI and control groups and among four AMI subgroups, which were subdivided by typical symptom, diagnosis time (DT), infarction location andserious complication. RESULTS:Significant differences were detected between the AMI patients and the controls in both the genotypic and allelic frequencies of rs1122608 (p<0.001 for each). There were also interactions between the subjects with a minor T allele and smoking or alcohol consumption (p<0.001 for each). CONCLUSION:In the Chinese Han study population, the mutant GT and TT genotypes and minor T allele of rs1122608 were positively correlated with the risk of AMI. For the first time, we discovered that the GT genotype of the rs1122608 SNP is significantly correlated with diagnosis time of AMI. In addition, the interactions between the minor T allele of rs1122608 and smoking or alcohol use and between the rs1122608 CC genotype and alcohol use appear to increase the risk of AMI.
Project description:INTRODUCTION:The Maonan population is a relatively isolated minority in China. Little is known about endothelial lipase gene (LIPG) single nucleotide polymorphisms (SNPs) and serum lipid levels in the Chinese populations. The present study aimed to detect the association of several LIPG SNPs and environmental factors with serum lipid levels in the Chinese Maonan and Han populations. METHODS:In total, 773 subjects of Maonan ethnicity and 710 participants of Han ethnicity were randomly selected from our previous stratified randomized samples. Genotypes of the LIPG rs2156552, rs4939883 and rs7241918 SNPs were determined by polymerase chain reaction-restriction fragment length polymorphism, and then confirmed by direct sequencing. RESULTS:The allelic (rs2156552, rs4939883 and rs7241918) and genotypic (rs2156552 and rs4939883) frequencies were different between the two ethnic groups (p < 0.05-0.01). The minor allele carriers had lower apolipoprotein (Apo)A1/ApoB ratio (rs2156552 and rs7241918), high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (Apo)A1 (rs2156552) levels and higher ApoB levels (rs4939883) in the Han population, and lower HDL-C (rs2156552, rs4939883 and rs7241918) levels in the Maonan minority than the minor allele non-carriers (p < 0.0167 after Bonferroni correction). Subgroup analyses according to sex showed that the minor allele carriers had a lower ApoA1/ApoB ratio (rs2156552 and rs7241918) and higher ApoB levels (rs7241918) in Han males, and lower ApoA1 and HDL-C levels in Maonan females than the minor allele non-carriers (p < 0.0167-0.001). CONCLUSIONS:The present study demonstrates the association between the LIPG polymorphsims and serum lipid levels in the two ethnic groups. These associations might have an ethnic- and or/sex-specificity.
Project description:BACKGROUND: To explore the association of ALOX5AP single nucleotide polymorphisms (SNPs) and haplotype with the occurrence of cerebral infarction in the Han population of northern China. METHODS: Blood samples were collected from 236 patients of Han ancestry with a history of cerebral infarction and 219 healthy subjects of Han ancestry with no history of cerebral infarction or cardiovascular disease. Applied Biosystems(®) TaqMan(®) SNP Genotyping Assays for SNP genotyping were used to determine the genotypes of 7 ALOX5AP SNP alleles (rs4073259, rs4769874, rs9315050, rs9551963, rs10507391, rs9579646, and rs4147064). RESULTS: One SNP allele (A) of rs4073259 was significantly associated with development of cerebral infarction (P = 0.049). In comparison to control groups, haplotype rs9315050&rs9551963 AAAC [OR (95% CI) = 1.53 (1.02-2.29)], and genotypes rs4147064 CT [OR (95% CI) = 1.872 (1.082-3.241)], and rs9551963 AC [OR (95% CI) = 2.015 (1.165-3.484)] increased the risk of cerebral infarction in patients with hypertension. Genotype rs9579646 GG [OR (95% CI) = 2.926 (1.18-7.251)] increased the risk of, while rs4073259 GG [OR (95% CI) = 0.381 (0.157-0.922)] decreased the risk of cerebral infarction in patients with diabetes. CONCLUSION: These results suggest the ALOX5AP SNP A allele in rs4073259 and genotype rs9579646 GG, rs9551963 AC, and haplotype rs9315050 & rs9551963 AAAC were associated with an increased risk of ischemic stroke in the Han population, while rs4073259 GG was associated with a decreased risk.