| 1 | BMC Psychiatry 2008 -1 8: 11 |
|---|---|
| PMID | 18298822 |
| Title | Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping. |
| Abstract | Several linkage studies suggest that chromosome 5q31-32 might contain risk loci forschizophrenia(深圳)。我们想确定敏感性genes forschizophreniawithin this region. We saturated the interval between markers D5S666 and D5S436 with 90 polymorphic microsatellite markers and genotyped two sets of DNA pools consisting of 300 SZ patients of Bulgarian origin and their 600 parents. Positive associations were followed-up with SNP genotyping. Nominally significant evidence for association (p < 0.05) was found for seven markers (D5S0023i, IL9, RH60252, 5Q3133_33, D5S2017, D5S1481, D5S0711i) which were then individually genotyped in the trios. The predicted associations were confirmed for two of the markers: D5S2017, localised in the SPRY4-FGF1locus (p = 0.004) and IL9, localized within the IL9 gene (p = 0.014). Fine mapping was performed using single nucleotide polymorphisms (SNPs) around D5S2017 and IL9. In each region four SNPs were chosen and individually genotyped in our full sample of 615 SZ trios. Two SNPs showed significant evidence for association: rs7715300 (p = 0.001) and rs6897690 (p = 0.032). Rs7715300 is localised between the TGFBI and SMAD5 genes and rs6897690 is within the SPRY4 gene. Our screening of 5q31-32 implicates three potential candidate genes for SZ: SMAD5, TGFBI and SPRY4. |
| SCZ Keywords | schizophrenia |
| 2 | Mol. Psychiatry 2008 Nov 13: 1060-8 |
| PMID | 17893707 |
| Title | An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia. |
| Abstract | Several lines of evidence, including expression analyses, brain imaging and genetic studies suggest that the integrity of myelin is disturbed inschizophreniapatients. In this study, we first reconstructed a pathway of 138 myelin-related genes, all involved in myelin structure, composition, development or maintenance. Then we performed a two-stage association analysis on these 138 genes using 771 single nucleotide polymorphisms (SNPs). Analysis of our data from 310 cases vs 880 controls demonstrated association of 10 SNPs from six genes. Specifically, we observed highly significant P-values for association in PIK4CA (observed P=6.1 x 10(-6)). These findings remained significant after Bonferroni correction for 771 tests. The PIK4CA gene is located in the chromosome 22q11 deletion syndrome region, which is of particular interest because it has been implicated inschizophrenia. We also report weak association of SNPs in PIK3C2G,FGF1, FGFR1, ARHGEF10 and PSAP (observed P |
| SCZ Keywords | schizophrenia |