Association of cyclic adenosine monophosphate response element-binding protein gene and major depressive disorder / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association between single nucleotide polymorphisms (SNPs) in cyclic adenosine monophosphate response element-binding protein(CREB1) gene and major depressive disorder (MDD).</p><p><b>METHODS</b>We recruited 105 parent-offspring trios of Chinese descent, extracted whole blood genomic DNA, and genotyped the SNPs in rs10932201 and rs6740584 loci. Single-marker transmission disequilibrium test (TDT), pairwise SNP linkage disequilibrium(LD) and haplotype-based TDT were performed.</p><p><b>RESULTS</b>No significant association with MDD was observed for SNPs rs10932201 and rs6740584 (P=0.1004 and P=0.4986). However, there was strong positive association between the rs10932201-rs6740584 haplotype and MDD (P=0.00003241), and both haplotypes of A-C and A-T were significantly associated with MDD (P=0.020 and P=0.00022).</p><p><b>CONCLUSION</b>The rs10932201-rs6740584 haplotype of the CREB1 gene may play an important role in the pathogenesis of MDD.</p>

Association Analysis of Serotonin 2A Receptor Gene Polymorphism and Obsessive-Compulsive Disorder / 上海第二医科大学学报

0.05). If the patients were divided into two subgroups according to SCID-II, there were significant differences of 5-HT2A genotype between patients without obsessive compulsive personality disorder(OCPD) and controls (P0.05). Conclusion The polymorphism of 5-HT2A receptor gene maybe associated with OCD patients who do not have OCPD in the Han nationality. Patients with or without OCPD may have different etiology.

Association between Dopamine Receptor D4 Gene Polymorphism and Obsessive-Compulsive Disorder / 上海第二医科大学学报

0.05). After dividing the patients into early-onset and late-onset subgroups, there were significant differences of DRD4 genotype and allele frequency between early-onset patients and controls (P0.05). Conclusion The results suggested that the polymorphism of DRD4 receptor gene may be associated with early-onset OCD. The 3/4 genetype may be the risk factor of early-onset OCD. Early-onset and late-onset OCD may have different etiology.

Association between depression and G72 gene polymorphism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association between G72 gene polymorphisms and depression,and to probe the difference of G72 gene polymorphisms between depression with and without mixed family history.</p><p><b>METHODS</b>The polymorphisms of G72 gene (rs947267 and rs2181953) were detected by PCR technique in 100 depressive patients without mixed family history, 50 depressive patients with mixed family history and 86 normal controls.</p><p><b>RESULTS</b>(1) The frequencies of rs947267 genotypes and alleles in female depressive patients without mixed family history were significant different to the controls (P=0.017 and P=0.008), the OR scores were 0.300 (A/A, P=0.010), 0.456(A, P=0.008) and 2.195(C, P=0.008) respectively; but in male patients there were no significant differences to the controls (P>0.05). (2) The frequencies of rs2181953 genotypes and alleles in the depressive patients without mixed family history were not significantly different to the controls regardless of sex (P>0.05). (3) The frequencies of rs947267 and rs2181953 genotypes and alleles in the depressive patients with mixed family history were not significantly different to the controls regardless of sex (P>0.05).</p><p><b>CONCLUSION</b>The G72 gene polymorphism may be associated with female depressive patients without mixed family history,C allele of rs947267 may be the risk factor.</p>

Associations between six functional genes and schizophrenia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the associations between schizophrenia and six functional genes: dopamine D2 receptor gene (DRD2), dopamine D4 receptor gene (DRD4), 5-hydroxytryptamine 2A receptor gene (5-HT2A), 5-HT6 receptor gene (5-HT6), catechol-O-methyltransferase gene (COMT) and dopamine transporter gene (DAT1).</p><p><b>METHODS</b>With the techniques of Amp-RFLP and Amp-FLP, association analysis was made between schizophrenia and the six genes in 67 schizophrenic patients from Chinese Han population.</p><p><b>RESULTS</b>(1) Neither genotypes nor alleles of DRD2, 5-HT2A, 5-HT6 and COMT gene showed significant differences between patients and controls (P>0.05). (2) Six repeats (6R) in DRD4 gene, the allele of 480 bp and the genotype of 480/520 in DAT1 gene were found to be of significant differences between the two groups (P<0.05). (3) Only one negative association was observed between the 480 bp allele of DAT1 gene and schizophrenia (OR=0.441, 95% CI:0.202-0.963, Z=2.05, P<0.05).</p><p><b>CONCLUSION</b>The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia.</p>

A study on the relation between the apolipoprotein E promoter -427C/T polymorphism and Alzheimer's disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the relation between the apolipoprotein E(apoE) promoter -427C/T polymorphism and Alzheimer's disease (AD) in a Chinese Han population in Shanghai.</p><p><b>METHODS</b>The apoE promoter -427C/T polymorphism in 104 AD cases and 110 healthy subjects was detected using polymerase chain reaction method and restriction fragment length polymorphism genotyping technique. The differences in polymorphic distribution between the two groups were tested, and odds ratio was computed.</p><p><b>RESULTS</b>No differences in apoE -427C/T genotypic distribution were observed between AD cases and controls (P>0.05). Even after stratification according to apoE epsilon 4 stratum, there was not any polymorphic distribution difference when epsilon 4 carriers or non epsilon 4 carriers were compared with controls (P>0.05). The association between AD and apoE epsilon 4 appeared in the TT group(OR=3.94,95%, CI:22067038, chi-square=21.48, P<0.05), but not in CT or CC group.</p><p><b>CONCLUSION</b>ApoE -427C/T polymorphism was not a susceptibility factor for AD in this Han population in Shanghai.</p>