[Association of CASP3 gene single nucleotide polymorphisms with Kawasaki disease in Chinese children patients].
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Abstract:
The minor allele T of rs113420705 (C/T) in caspase-3 gene (CASP3) has been found to significantly increase the risk of Kawasaki disease (KD) and complicate coronary artery lesions (CALs) in Japanese children. In this study, we have explored association of single nucleotide polymorphisms (SNPs) of CASP3 gene and clinic phenotypes of KD.A total of 238 unrelated KD patients and 364 healthy controls with matched age, gender and ethnic origins were recruited. Genotypes of the 3 SNPs were determined with PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing. Allelic, genotypic and haplotypic frequencies were compared between patients and controls, patients with and without CALs, and patients resistant to and responsive to intravenous immunoglobulin (IVIG) treatment.The T allele and T carriers of rs113420705 were significantly more common in KD patients than controls. A significant difference was also detected in haplotype distribution between patients and controls, where two haplotypes involving the T allele of rs113420705 showed higher frequencies in the patient group. Allelic and genotypic frequencies of the 3 SNPs were similar between patients with and without CALs and those resistant to and responsive to IVIG treatment.Our results suggested that CASP3 probably plays an important role in KD. The T allele of rs113420705 may provide a useful marker for KD susceptibility, although no association between this SNP and clinical prognosis and treatment effect of KD has been found among the selected Chinese children patients.Keywords:
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Objective: The aim of this study was to evaluate the association between two haplotype-tag single nucleotide polymorphisms (SNPs) (rs6658835 and rs10495098) of TGF-β2 and conotruncal heart defects (CTDs).Methods: Two polymorphisms of TGF-β2 gene were genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) from 259 CTDs patients and 310 control subjects.Results: The association between SNP rs6658835 in TGF-β2 and CTDs has been found. The frequency of G allele in CTDs patients was significantly higher than that in control subjects (52.7% versus 40.3%, p < 0.001, OR =1.649).Conclusion: TGF-β2 gene polymorphisms may serve as a novel genetic marker for the risk of CTDs.
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Objective:To investigate the relationship between adiponectin gene single nucleotide polymorphisms(SNPs) and atherosclerosis in the Taizhou population.Methods: By using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis,198 AS patients and 68 controls were characterized for adiponectin gene polymorphisms (-11377C/G,and +276G/T).Results: The frequency of adiponectin gene SNP+276TT genotype and T allele were significantly lower in patients of AS than controls.There was no significant difference in adiponectin-11377C/G SNP genotype among each group,The frequency of SNP-11377 C allele were significantly lower in patients of AS than controls.There was significant difference in C reactive protein,triglyeride(TG),total cholesterol(TC),low-density lipoprotein(LDL-c) and glucose(Glu) between adiponectin SNP+276TT genotype and SNP+276GT+GG.Conclusion: SNP276 polymorphism of adiponectin gene is associated with AS in the population of Han ethnicity in Taizhou.The risk of AS increases in GG or GT genotype compared to TT genotype.The G allele may be a risk factor of AS in Han ethnicity of China.
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AIM To investigate the relationship between single nucleotide polymorphisms(SNPs)of CYP3A4(CYP3A4*18A,CYP3A4*1G)and drug resistance epilepsy in Han Chinese children.METHODS Total 238 children were collected,83 children with drug-resistant epilepsy(resistance group),87 children with drug effective epilepsy(effective group)and 68 normal control children(control group).Two single nucleotide polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method.The distribution of genotypes and allele frequencies of two single nucleotide polymorphisms were compared.RESULTS The frequencies of homozygous wild genotypes of CYP3A4*1G polymorphism in resistant group,effective group and normal group were 47%,45%,50%,heterozygous variant genotypes were 46%,49%,43%,homozygous variant genotypes were 7%,6%,7%,wild-type allele were 70%,70%,71%,and variant allele were 30%,30%,29%,respectively.No statistically significant associations were observed in the distribution of geno-types and allele frequencies of CYP3A4*1G polymorphism among the three groups(P 0.05).The frequencies of homozygous wild genotypes and heterozygous variant genotypes of CYP3A4*18A in resistance group were 93% and 7%,wild-type allele and variant allele were 96% and 4%,respectively.The frequencies of homozygous wild genotypes of CYP3A4*18A in effective group and normal group were all 100%.The distribution of genotypes and allele frequencies of CYP3A4*18A polymorphism in drug resistance epilepsy showed significant difference from those drug effective epilepsy(P 0.05),but showed no significant difference from those in normal control children(P 0.05).CONCLUSION CYP3A4*18A polymorphism may be correlated with drug-resistant epilepsy in the region Han children,and CYP3A4*1G polymorphism may have not the correlation.Detecting CYP3A4*18A genotype may be one of effective treatment method to choose antiepileptic drugs.
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Objective: Analysis of two ethnic Uygur and Han investigate ischemic stroke adiponectin( Adiponectin) gene single nucleotide rs182052,rs6444175,rs1501296 allele polymorphism point whether the differences. Methods: Gene sequencing methods were used to detect 210 was used cases of acute ischemic stroke patients( case group) and 104 healthy people( control group)Adiponectin gene,using case-control association analysis of genotype and allele frequencies compared explore the two ethnic differences in different gene polymorphism loci. Results: When the case group and the control group were compared,it was found that the Adiponectin gene rs64441759G /A was significantly higher in the case group. The risk rate increased significantly to 1. 481 times( OR =1. 481; 95% CI: 1. 219- 1. 910; P = 0. 000). Conclusion: Adiponectin gene rs6444175A allele may be susceptible to pathogenic gene. No significant differences show on the 3 SNP loci of Adiponectin genes between Uygur and Han patients.
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The minor allele T of rs113420705 (C/T) in caspase-3 gene (CASP3) has been found to significantly increase the risk of Kawasaki disease (KD) and complicate coronary artery lesions (CALs) in Japanese children. In this study, we have explored association of single nucleotide polymorphisms (SNPs) of CASP3 gene and clinic phenotypes of KD.A total of 238 unrelated KD patients and 364 healthy controls with matched age, gender and ethnic origins were recruited. Genotypes of the 3 SNPs were determined with PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing. Allelic, genotypic and haplotypic frequencies were compared between patients and controls, patients with and without CALs, and patients resistant to and responsive to intravenous immunoglobulin (IVIG) treatment.The T allele and T carriers of rs113420705 were significantly more common in KD patients than controls. A significant difference was also detected in haplotype distribution between patients and controls, where two haplotypes involving the T allele of rs113420705 showed higher frequencies in the patient group. Allelic and genotypic frequencies of the 3 SNPs were similar between patients with and without CALs and those resistant to and responsive to IVIG treatment.Our results suggested that CASP3 probably plays an important role in KD. The T allele of rs113420705 may provide a useful marker for KD susceptibility, although no association between this SNP and clinical prognosis and treatment effect of KD has been found among the selected Chinese children patients.
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Recurrent pregnancy loss (RPL) has been defined as two or more miscarriages before 20(th) week of gestation. It seems that IL-27 may reduce inflammatory responses and affect the survival of the embryo during human pregnancy. IL-27 polymorphisms may influence RPL by altering the levels or the activity of gene product.We studied for the first time the association of IL-27 -964 A>G single nucleotide polymorphism (SNP) with RPL in Iranian women.A case-controlled study was performed on two groups consisting of 150 healthy women with at least one delivery (control group) and 150 women with two or more primary RPLs history (RPL group). The -964 A>G SNP in IL-27 gene was determined by PCR-RFLP technique. Genotype and allele frequencies were compared using (2) tests between two groups.There was no difference between the two groups regarding age of women (29±4.4 [control] vs. 30.84±5.2 years [case]). In the RPL group, the genotype frequencies of -964 A>G polymorphism were AG (49.3%), AA (40%), and GG (10.7%), and in the control group, they were AG (43.3%), AA (48.7%), and GG (8%). There was no significant difference between the genotypes of AA, AG, and GG in two groups (p=0.23). As the frequency of allele A was 64.7% in the RPL group and 70.3% in the control group, the difference in frequency of allele A in -964 A>G between two groups was not significant (p=0.19).Our findings indicate that SNP of -964 A>G in IL-27 gene is not a risk factor for RPL in Iranian women.
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To study the association of the single nucleotide polymorphisms (SNPs) rs17576 and rs2250889 in the extracellular matrix metalloprotease-9 (MMP-9) gene with primary angle closure glaucoma (PACG) in southern Chinese patients.DNA samples were obtained from 211 adult patients with PACG and 205 control subjects to study the relationships between SNPs in MMP-9 and PACG. Polymorphism analyses of rs17576 and rs2250889 in MMP-9 were performed using the polymerase chain reaction,restriction fragment length polymorphism (RFLP), and direct DNA sequencing techniques. The association between genetic polymorphisms and the risk of PACG were estimated by chi2 test and logistic regression.Genotyping of the MMP-9 site (rs2250889) was significantly different between the two groups (P=0.004), and the odds ratio was OR=1.76 (95%CI: 1.264-2.449). The frequencies of the G/G genotype in the PACG and control groups were 9% and 2.9%, respectively. However, there were no significant differences between these two groups in the frequencies of the genotypes and alleles for rs17576 in MMP-9.The SNP rs2250889 located in MMP-9 might be associated with PACG among southern Chinese people, and people with the G/G genotype are likely more susceptible to PACG. In contrast, the SNP rs17576 in MMP-9 might not be related to PACG in the same population.
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Objective To investigate the association of single nucleotide polymorphisms(SNP)45 T→G and SNP276 G→T in the adiponectin gene with metabolic syndrome(MS).Methods 183 patients with MS and 144 participants were selected.Adiponectin gene SNP45 of them were analyzed by TaqMan technology.Adiponectin gene SNP276 of them were analysised by direct sequencing.Results The distributions of SNP45 genotypes were different between MS and the control group(P0.05).The analysis of allele frequency showed the major allele was G in MS patients(P0.05).The subjects with SNP45 TG or GG genotype had lower serum adiponectin levels than those with TT genotype in MS groups(P0.05).The distribution of genotype and allele frequencies of SNP276 were not different in MS and control groups(P0.05).Conclusion SNP45 G/G genotype seems to be the susceptive gene in MS patients of Chinese Han.
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