Association Study of NOD2 Gene and Coronary Artery Disease Based on Optimized DNA Ligase Chain Reaction / 中国循环杂志

Objective: Based on optimized method of DNA ligase chain reaction in medium/low throughput genotyping, we assessed the relationship between NOD-like receptor genes NOD1, NOD2 and coronary artery disease (CAD) occurrence. Methods: A multiplex PCR was conducted to enrich DNA template; probe design, annealing temperature, time and number of circulation of PCR were opfimizecl for allele specific ligation; allele specific products were identified by fluorescence PCR and capillary electrophoresis; the accuracy was verified by Sanger sequencing. Single nucleotide polymorphisms (SNPs) on NOD1 gene and NOD2 gene were examined in 1555 CAD patients and 1887 control subjects; the relationship between SNPs and CAD occurrence was studied. Results: Based on optimized PCR condition and allele specific probe design, 30 allele loci genotyping can be genotyped by 10ng DNA template at one time. Association study presented that rs751271 and rs1861759 on NOD2 gene were related to non-hypertensive CAD, allP<0.05; with Bonferroni correction, such correlation was still significant, allP<0.05. Conclusion: We optimized DNA ligase chain reaction and established a novel high accuracy, low cost method for the demand of medium/low throughput genotyping in clinical molecular diagnosis. With this method, we identified that rs1861759 and rs751271 on NOD2 gene were associated with non-hypertensive CAD.

Relationship Between Leptin Receptor Gene Gln223Arg Polymorphism and Metabolism Syndrome With its Impact on Left Ventricular Hypertrophy / 中国循环杂志

Objective: To explore the relationship between 1eptin receptor gene Gln223Arg polymorphism and metabolism syndrome (MS) with its impact on cardiac structure and function. Methods: Our research included 2 groups:MS group, n=167 patients with ifrst diagnosed MS without treatment in our hospital from 2005-10 to 2008-6 and Control group, n=216 healthy subjects from regular physical examination. Blood pressure, biochemical features, insulin levels and echocardiography were detected;leptin receptor Gln223Arg genotypes were measured by PCR-RFLP;the above indexes were compared between 2 groups. Results:The patients in MS group had the higher frequency of A allele than Control group. The MS occurrence rate in allele A carrier was 3.302 times higher than allele G carrier (P=0.000;95%CI 2.432-4.483). The patients in MS group already had left ventricular hypertrophy and impaired diastolic function. Compared with MS G allele carriers, the A allele carriers had the higher BMI, blood pressure, glucose, fasting glucose and insulin levels, longer waist circumference, more serious dyslipidemia and insulin resistance, left ventricular hypertrophy and impaired diastolic function. Conclusion: Leptin receptor gene Gln223Arg polymorphism is associated with the increased risk of MS occurrence and left ventricular hypertrophy.