Sex-dependent association of phosphodiesterase 4D gene polymorphisms with ischemic stroke in Henan Han population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Recent evidence has implicated the gene for phosphodiesterase 4D (PDE4D) as susceptibility gene for ischemic stroke (IS) in Icelandic population. However, there are few reports on the associations between PDE4D gene polymorphisms and IS in Chinese individuals. The present study aimed to investigate the possible association of genetic polymorphisms in PDE4D gene with IS in Henan Han population.</p><p><b>METHODS</b>A total of 400 patients with IS and 400 matched controls were examined using a case-control design. Two single nucleotide polymorphism (SNPs) (rs918592 and rs2910829) in PDE4D gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Odds ratios (OR) and 95% confidence intervals (95%CI) were calculated to test the association between the genetic factors and IS. Genetic parameter and association studies were carried out with SPSS 16.0.</p><p><b>RESULTS</b>Among the two SNPs tested, the rs918592 was significantly associated with IS (OR: 1.351, 95%CI: 1.110 - 1.645), especially in male patients (OR: 1.427, 95%CI: 1.105 - 1.844). Haplotype analysis showed that A-T was associated with an increased risk of the IS (OR: 2.114, 95%CI: 2.005 - 2.230) while G-T was associated with decreased risk of IS (OR: 0.419, 95%CI: 0.302 - 0.583). Protecting effect of haplotype G-T was also significant in males (OR: 0.264, 95%CI: 0.162 - 0.431).</p><p><b>CONCLUSIONS</b>The present study demonstrated a strong association of rs918592 with IS. Haplotype A-T increased the risk of IS while haplotype G-T had a protective effect in Henan Han population. The association was sex-dependent with male patients showing stronger effect.</p>

A study on paternity testing with 96 autosomal SNPs / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the feasibility of applying autosomal single nucleotide polymorphisms (SNPs) on parentage testing.</p><p><b>METHODS</b>All SNP genotyping results of HapMap (r27) were downloaded from the website. With self-made computer programs, SNPs were extracted when their minor allele frequency (MAF) were ≥ 0.30 among all of the 11 HapMap populations. Ninety-six SNPs were chosen and integrated into the Illumina Goldengate bead arrays on the condition that no linkage disequilibrium was found between them. Three father-child-mother trios (9 samples in total) were tested with the arrays. Cumulative paternity index (CPI) was then calculated and compared with genotyping results using 15 short tandem repeats (STRs)(Identifiler(TM)).</p><p><b>RESULTS</b>Family 1 was found to have nine SNPs or seven STRs that did not conform to the Mendelian laws, Family 2 had 13 such SNPs or seven STRs, and Family 3 only had one such SNP but no STR. For Family 3, when all of the 96 SNPs were used in combine, the CPI was 1207, which had contrasted with the CPI by the 15 STRs, i.e., 355 869.</p><p><b>CONCLUSION</b>When applied to paternity testing, the paternity exclusion (PE) value for a SNP is usually less than 1/3 of that of a STR. The proportion of SNPs not comforming to the Mendelian laws for the tested SNPs may not be as high as that of inconsistent STRs over all tested STRs. Because of the low mutation rate of a SNP, the CPI will be greatly reduced even if one SNP did not conform to the Mendelian laws. Therefore, highly accurate testing methods are required to reduce artificial errors when applying SNPs for paternity testing.</p>