Association between protein tyrosine phosphatase receptor type R gene and major depressive disorder / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the genetic association between protein tyrosine phosphatase receptor type R (PTPRR) gene polymorphism and major depressive disorder (MDD) and its endophenotype.</p><p><b>METHODS</b>A total of 517 unrelated MDD patients and 455 unrelated healthy subjects were recruited in this study to detect 11 single nucleotide polymorphisms (SNPs) in the PTPRR locus. They all were of the Chinese Han origin. Genotyping of SNPs was performed by matrix assisted laser desorption ionisation time-of-flight mass spectrometry (MALDI-TOF-MS) -based genotyping approach. The UNPHASED program was applied to analyze the genotyping data.</p><p><b>RESULTS</b>Of the 11 selected SNPs, no significant allelic and genotypic association was found between MDD patients and the normal controls (corrected P > 0.05). However, analysis of haplotypes showed that the three SNPs haplotype rs1398599 (C) -rs2175711 (A) - rs4489789 (T) (P = 0.0023, OR = 1.334, 95% CI = 1.104-1.612) and four SNPs haplotype rs11178391 (C) -rs1398599 (C) -rs2175711 (A)-rs4489789(T) (P = 0.0063, OR = 1.281, 95% CI = 1.059-1.549) were associated with increased risk of MDD. Quantitative trait analysis revealed that rs2203231 in the PTPRR locus had strong allelic and genotypic association with the raw score of long-term memory (P = 0.0038 for allelic association, P = 0.0024 for genotypic association), the scaled score of long-term memory (P = 0.0057 for allelic association, P = 0.0038 for genotypic association), the raw score of short-term memory (P = 0.0027 for allelic association, P = 0.0015 for genotypic association), and the scaled score of short-term memory (P = 0.0035 for allelic association, P = 0.002 for genotypic association) in MDD patients.</p><p><b>CONCLUSION</b>The polymorphism of PTPRR gene rs2203231 may be associated with the impairment of long-term and short-term memories in MDD patients.</p>

Association between copy number variants within metabotropic glutamate receptors 7 gene and schizophrenia / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate whether genomic copy number variants (CNVs), within metabotropic glutamate receptors 7 (GRM 7) gene are associated with schizophrenia.</p><p><b>METHODS</b>We examined CNVs in conserved region of GRM7 using real time quantitative PCR among 180 Chinese schizophrenia cases and 33 normal controls. Products of real time quantitative PCR were sequenced bilaterally.</p><p><b>RESULTS</b>Real time quantitative PCR found that a biallelic deletion existed at the 200 bps up-stream of exon 2 in a schizophrenia patient and a monoallelic deletion existed at this site in another 13 schizophrenia patients and a control subject. However, sequencing results showed a substitution of C to G at the 5bp up-stream of 3' end of reverse primer for real time PCR (GRM7-SV-1R). In addition, samples with this variant were exactly those having biallelic or monoallelic deletions, indicating that the results of the real time PCR were caused by the substitution variant at the 3' end of the primer rather than a bona fide genome deletion.</p><p><b>CONCLUSIONS</b>Real-time quantitative PCR combined with sequencing can avoid false positive deletions and therefore is effective in detecting CNVs. According to our results, CNVs in GRM 7 gene is not associated with schizophrenia in the Han Chinese population. However, some potential rare CNVs may still have such relationship, and require further study.</p>

Association between monoamine oxidase A gene and major depression in Chinese Han population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the association between monoamine oxidase A (MAOA) variable number tandem repeat (VNTR) polymorphism and major depression in Chinese Han population.</p><p><b>METHODS</b>Polymerase chain reaction was used to genotype MAOA VNTR polymorphism. A total of 512 major depression patients and 566 normal controls were recruited in our study. These patients were also assessed using the 14-item Hamilton anxiety scale. RESULTS The allele frequency of MAOA VNTR was not significantly different between the male/female major depression patients and the normal controls. Compared with the normal controls, MAOA VNTR genotype was significantly more frequent in female major depression patients (P=0.002), but not in male patients (P=0.17). MAOA VNTR-L carrier was also associated with "fear" symptom in female patients (P=0.0056).</p><p><b>CONCLUSION</b>MAOA gene is associated with the major depression in Chinese Han population, especially among female patients.</p>

Association between the serotonin 1A receptor C(-1019)G polymorphism and major depressive disorder in the northern Han ethnic group in China / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Recent studies have suggested that susceptibility to major depressive disorder (MDD) might be related to the serotonin 1A receptor (5-HTR1A) C (-1019) G polymorphism. In this study, we aimed to assess the association between 5-HTR1A C (-1019) G polymorphism and MDD in the Northern Han ethnic group of China.</p><p><b>METHODS</b>The C (-1019) G of 5-HTR1A was detected with polymerase chain reaction (PCR) in 400 patients with MDD and 400 unrelated age- and sex-matched healthy control subjects. Association between the C (-1019) G and MDD was statistically analyzed.</p><p><b>RESULTS</b>There was a statistically significant difference between MDD patients and controls in both the genotype distribution (Chi(2) = 10.913, df = 2, P = 0.004) and the allele frequency (Chi(2) = 10.379, df = 1, P = 0.001), and a significant difference in the genotype distribution and the allele frequency was found both in the female subjects (Genotype distribution: Chi(2) = 15.406, df = 2, P = 0.000; allele frequency: Chi(2) = 15.552, df = 1, P = 0.000) and the late-onset subjects (Genotype distribution: Chi(2) = 7.771, df = 2, P = 0.021; allele frequency: Chi(2) = 8.007, df = 1, P = 0.005) in the two groups.</p><p><b>CONCLUSION</b>These results suggest that 5-HTR1A C (-1019) G polymorphism is probably associated with MDD and it is likely to be the susceptible gene locus for the female and late-onset MDD.</p>