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>

Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between 1137-1140 Del GTGA in exon 1 at KCNN3 gene and schizophrenia.</p><p><b>METHODS</b>The study included 289 subjects (affected 107; unaffected 182) from 95 schizophrenic trios. All subjects were collected from Han Chinese in south China and genotyped for 1137-1140 Del GTGA in KCNN3 using PCR and restriction endonuclease Dde I. All the affected patients met the CCMD-II-R criteria for schizophrenia. The haplotype-based haplotype relative risk(HHRR) and transmission/disequilibrium test(TDT) analyses were done in 95 schizophrenic trios.</p><p><b>RESULTS</b>Comparative analysis on the distribution of alleles between the affected and unaffected parents(87 family trios) showed no significant difference(X(2)=0.253, P> 0.05). HHRR showed that KCNN3 gene alleles transmitted to the patients were not different from that of the non-transmitted parental alleles(X(2)=0.042, P> 0.05). TDT revealed that A(2) alleles were not preferentially transmitted to schizophrenic patients(X(2)=3.000, P=0.0833).</p><p><b>CONCLUSION</b>In this study a lower frequency for 1137-1140 Del homozygote of KCNN3 gene was observed, and the HHRR and TDT analyses suggested that the 1137-1140 Del alleles of KCNN3 gene be unlikely to confer susceptibility to schizophrenia.</p>