[Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios].
OBJECTIVE
To investigate the relationship between 1137-1140 Del GTGA in exon 1 at KCNN3 gene and schizophrenia.


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
Hong
Xiao-hong
XH
Mental Health Center, Shantou University, Shantou, Guangdong, 515063 PR China. hongxiaohong@21cn.com
Xu
Chong-tao
CT
Yang
Quan
Q
Wu
Cai-ru
CR
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D012559:Schizophrenia / Q000235:genetics*; D051640:Small-Conductance Calcium-Activated Potassium Channels / Q000235:genetics*; D055815:Young Adult
C406328:KCNN3 protein, human; D051640:Small-Conductance Calcium-Activated Potassium Channels