An association study of COMT gene polymorphisms with schizophrenia / 中华医学遗传学杂志

<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>

The transmission disequilibrium analysis between neuronal nicotinic acetylcholine receptor alpha 7 subunit gene polymorphisms and schizophrenia / 中华医学遗传学杂志

<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>