Association between polymorphism of BDNF and internalizing disorders / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the genetic association between brain-derived neurotrophic factor (BDNF) gene polymorphism and internalizing disorders, to provide the theoretical basis to explore the etiology of internalizing disorders.</p><p><b>METHODS</b>PCR-based ligase detection reaction (PCR-LDR) was applied to tag single nucleotide lengh polymorphism (SNPs) of BDNF gene among 259 undergraduates affected by internalizing disorders and 269 healthy undergraduates. Haplotype analysis and multiple locus analysis were conducted to analyze the genotyping data.</p><p><b>RESULTS</b>The genotypic frequency of tag SNPs of BDNF gene did not deviate from Hardy-Weinberg equilibrium in both case and control groups. Rs12273539 was not associated with internalizing disorders (P > 0.05), but rs10835210 and rs2030324 were related to internalizing disorders (P < 0.05). The case group had more A allele of rs10835210 and C allele of rs2030324 when compared to the controls while A allele of rs10835210 and C allele of rs2030324 seemed to be the risk factors of internalizing disorder (OR = 1.877, P < 0.001; OR = 1.347, P < 0.05). Results of multiple locus analysis showed that the haplotype composed by the three tag SNPs which was related to internalizing disorders (chi(2) = 23.537, P < 0.001).</p><p><b>CONCLUSION</b>BDNF gene might serve as the susceptible gene for internalizing disorder.</p>

Study on the genetic association between the polymorphism of cytosolic phospholipase A2 family genes and schizophrenia / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the genetic association between the polymorphism of cytosolic phospholipase A2 (cPLA2) family genes and schizophrenia in the North Han Chinese.</p><p><b>METHODS</b>Method of polymerase chain reaction-based ligase detection reaction (PCR-LDR) was applied to genotype 10 single nucleotide polymorphisms (SNPs) of cPLA2 family genes among 201 pedigrees consisting of fathers, mothers and affected offsprings with schizophrenia. Haplotype relative risk (HRR) test, transmission disequilibrium test (TDT), haplotype transmission analysis and multiple locus analysis were conducted to analyze the genotyping data.</p><p><b>RESULTS</b>The genotypic frequency of cPLA2 gene did not deviate from Hardy-Weinberg equilibrium in both case and control groups. HRR and TDT showed that the 10 SNPs were not associated with schizophrenia (P > 0.05). Analysis for haplotype transmission showed that no haplotype systems was associated with schizophrenia (P > 0.05). Results from COA and COG tests showed a disease association for the rs2162886-rs1668589, rs891014-rs1668589 and rs2307279-rs7542180 combinations (chi2 = 6.913, P = 0.032; chi2 = 8.393, P = 0.015; chi2 = 8.447, P = 0.038).</p><p><b>CONCLUSION</b>Many loci in the cPLA2 family genes were associated with schizophrenic.</p>

Is KPNB3 locus associated with schizophrenia? / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To reconfirm the association of KPNB3 with schizophrenia in Chinese population.</p><p><b>METHODS</b>Two single nucleotide polymorphisms (SNPs), rs2588014 and rs626716 at the KPNB3 locus, were genotyped in 304 Chinese Han family trios consisting of fathers, mothers, and affected offsprings with schizophrenia. These 2 SNPs were detected by PCR-based restriction fragment length polymorphism (RFLP) analysis. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was used to perform transmission disequilibrium test (TDT), haplotype analysis, and pair-wise measure of linkage disequilibrium (LD) between these 2 SNPs.</p><p><b>RESULTS</b>The genotypic distributions of both rs2588014 and rs626716 were in the Hardy-Weinberg equilibrium (P > 0.05). The TDT revealed allelic association with rs626716 (chi2 = 9.31, P = 0.0023) but not with rs2588014 (chi2 = 3.44, P = 0.064). The global P-value was 0.0099 for 100 permutations. The haplotype analysis also showed a disease association (chi2 = 25.97, df = 3, P = 0.0000097).</p><p><b>CONCLUSION</b>The present study provides further evidence in support of the KPNB3 association with schizophrenia in Chinese population.</p>

Searching for a schizophrenia susceptibility gene in the 22q11 region / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate a genetic association for schizophrenia within chromosome 22q11 in a Chinese Han population.</p><p><b>METHODS</b>The PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis was used to detect three single nucleotide polymorphisms (SNPs), rs165655 (A/G base change) and rs165815 (C/T base change) present in the ARVCF (armadillo repeat gene deletion in velocardiofacial syndrome) locus, and rs756656 (A/C base change) in the LOC128979 (expressed sequence tags, EST) locus, among 100 Chinese family trios consisting of fathers, mothers and affected offspring with schizophrenia. Genotype data were analyzed by using linkage disequilibrium (LD) methods including haplotype relative risk (HRR) analysis, transmission disequilibrium test (TDT) and haplotype transmission analysis.</p><p><b>RESULTS</b>The genotype frequency distributions of three SNPs were all in Hardy-Weinberg equilibrium (P>0.05). Both the HRR and the TDT analysis showed that rs165815 was associated with schizophrenia (chi2=6.447, df=1, P=0.011 and chi2=6.313, df=1, P=0.012, respectively), whereas the other two SNPs did not show any allelic association. The haplotype transmission analysis showed a biased transmission for the rs165655-rs165815 haplotype system (chi2=17.224, df=3, P=0.0006) and for the rs756656-rs165655-rs165815 hapoltype system (chi2=20.965, df=7, P=0.0038).</p><p><b>CONCLUSION</b>Either the ARVCF gene itself or a nearby locus may confer susceptibility to schizophrenia in a Chinese Han population.</p>

Searching for a schizophrenia susceptibility gene in the 22q11 region / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the genetic association for schizophrenia within the long arm region 1 band 1 of chromosome 22 (22q11) in a Han Chinese population.</p><p><b>METHODS</b>Polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) analysis was used to detect three single nucleotide polymorphism (SNPs), rs165655 (A/G base change) and rs165815 (C/T base change) present in the ARVCF (armadillo repeat gene deletion in velocardiofacial syndrome) locus, and rs756656 (A/C base change) in the LOC128979 (expressed sequence tags, EST) locus, among 100 nuclear families composed of fathers, mothers and affected offspring with schizophrenia. Genotyping data were analyzed by linkage disequilibrium methods including haplotype relative risk (HRR) analysis, transmission disequilibrium test (TDT) and haplotype transmission analysis.</p><p><b>RESULTS</b>The genotype frequency distributions of three SNPs were all in Hardy-Weinberg equilibrium; Both HRR and TDT analysis showed that rs165815 was associated with schizophrenia (P < 0.05), whereas the other two SNPs did not show any allelic association. The haplotype transmission analysis showed a biased transmission for the rs165655-rs165815 haplotype system and for the rs756656-rs165655-rs165815 haplotype system (P < 0.01).</p><p><b>CONCLUSION</b>Either ARVCF gene itself or a nearby locus might confer susceptibility to schizophrenia in a Han Chinese population.</p>

Study on the genetic association between DRB3 and DRB1 loci in the human MHC region and psychotic symptoms of schizophrenia / 中华流行病学杂志

<p><b>OBJECTIVE</b>The genomic region of the human major histocompatibility complex (MHC) is located in the short arm of chromosome 6 (6p). Linkage studies have shown that the 6p region may contain a gene for schizophrenia, the MHC region has thus become particularly important in searching for the schizophrenia susceptibility gene. The present study was designed to investigate the genetic association of DRB3 and DRB1 genes with psychotic symptoms of schizophrenia.</p><p><b>METHODS</b>PCR-based restriction fragment length polymorphism (RFLP) analysis was applied to genotype two single nucleotide polymorphisms (SNPs) located in the DRB3 locus and in the DRB1 one in 116 Chinese Han family trios consisting of fathers, mothers and affected offspring with schizophrenia. Chi-square (chi(2)) test and haplotype-based relative risk (HRR) analysis were used on genotyping data.</p><p><b>RESULTS</b>Data on HRR analysis did not show a genetic association either between the DRB3 locus and schizophrenia or between the DRB1 locus and the illness. However, the SNP rs707954, a G to T base change, present in the DRB1 locus showed strong association with idea of reference (chi(2) = 5.484, df = 1, P = 0.019), while the genotype of rs707954 showed an association with idea of reference (chi(2) = 6.771, df = 2, P = 0.034) as will as with apathy (chi(2) = 12.110, df = 4, P = 0.017).</p><p><b>CONCLUSION</b>DRB1 locus seemed likely to be associated with psychotic symptoms as idea of reference and apathy. Further studies were necessary to reveal the relations between DRB1 gene or nearby locus with its susceptibility to schizophrenia.</p>