ABSTRACT
Objective To explore the correlation between the methylation level of 5-hydroxytryptamine receptor 1A(HTR1A) gene promoter region and severity of symptom in the manic epi-sode patients with bipolar disorder type Ⅰ(BD-Ⅰ). Methods Fifty six manic episode patients with BD-Ⅰand fifty nine healthy controls were randomly included in the study. The level of HTR1A gene promoter meth-ylation was measured with pyrosequencing technique in both manic episode patients with BD-Ⅰ and the healthy controls. The severity of symptoms was assessed with score of Bech-Rafaelsen Mania Rating Scale (BRMS) in patients with BD-Ⅰ. Pearson correlation analysis was employed to explore the correlation be-tween the serum level of HTR1A promoter methylation and score of BRMS in BD-Ⅰgroup. Results In-creased serum level of HTR1A gene promoter methylation was found in manic episode patients with BD-Ⅰ((66. 55±10. 55)%) compared with that in healthy controls((54. 03±8. 85)%)(P<0. 01). Positive corre-lation was found between the serum level of HTR1A gene promoter methylation and total score of BRMS in manic patient with BD-Ⅰ(r=0. 534,P<0. 01). Conclusion The current findings suggest that the serum level of HTR1A gene promoter methylation can be an epigenetic indicator for severity of manic symptom in BD-Ⅰ.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between 8 polymorphisms in the catechol-O-methyl transferase gene (COMT) and schizophrenia in Yuedong-Chaoshan region of China.</p><p><b>METHODS</b>Eight single nucleotide polymorphism (SNPs), namely rs4680, rs4818, rs165599, rs737865, rs2075507, rs6267, rs6269 and rs4633, in the COMT gene were genotyped in 279 schizophrenia patients and 100 healthy controls.</p><p><b>RESULTS</b>There was no significant difference between any single SNP and schizophrenia. However, association might exist between haplotypes (G)-G-A-A [(rs4680)-rs165599-rs2075507-rs6269] and A-A-C-(G) [rs2075507-rs6269-rs4633-(rs6267)] and schizophrenia.</p><p><b>CONCLUSION</b>In the population of Yuedong region of China, the eight SNPs (rs4680, rs4818, rs165599, rs737865, rs2075507, rs6267, rs6269 and rs4633) in the COMT gene are unlikely to play a major role in the susceptibility to schizophrenia. There might be protective haplotypes in the COMT gene against schizophrenia.</p>
Subject(s)
Adult , Female , Humans , Male , Young Adult , Catechol O-Methyltransferase , Genetics , China , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Schizophrenia , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between neuronal nicotinic acetylcholine receptor alpha 7 subunit (CHRNA7) gene and schizophrenia.</p><p><b>METHODS</b>The three polymorphisms rs2337980, rs1909884, rs883473 in CHRNA7 gene were detected based on PCR and polyacrylamide gel microarray in 129 schizophrenic trios. The results of genotyping were analyzed by haplotype relative risk analysis based on haplotype(HHRR), transmission disequilibrium test(TDT) and hyplotype analysis.</p><p><b>RESULTS</b>(1)The HHRR analysis suggested that there was significant differences in rs2337980 allele frequencies between schizophrenia group and dummy control group(P= 0.017); (2)In TDT test, there may be transmission disequilibrium between rs2337980 and schizophrenia, the heterozygous parents excessively transferred the C allele to patients (P= 0.021); (3)The haplotype between rs2337980 and rs1909884 as well as the hyplotype among rs2337980, rs1909884 and rs883473 may have significant association with schizophrenia (global P= 0.034; global P= 0.027), the T-C and T-C-T hyplotype may have transmission disequilibrium with schizophrenia.</p><p><b>CONCLUSION</b>There may be association between CHRNA7 gene polymorphisms and schizophrenia, the variant allele T in rs2337980 may have a protective effect to schizophrenia.</p>