No NRG1 V266L in Chinese patients with schizophrenia.
NRG1 is one of the best-supported schizophrenia (SZ) susceptibility genes. A NRG1 V266L missense mutation has been found to be associated with SZ in several populations. V266L is not in linkage disequilibrium with any of the SZ-associated NRG1 haplotypes described thus far, and may represent an independent SZ susceptibility locus within NRG1 gene. V266 is a highly conserved residue and its substitution is predicted to have a deleterious effect on the protein. As there are no data for V266L in Chinese, and given the potential relevance of this mutation, we investigated the V266L prevalence in 270 Chinese patients with schizophrenia and 270 ethnically matched controls. V266L was found neither in patients nor in controls. Lack of replication of an association across populations may be because of the differences in linkage disequilibrium structure or allele frequencies. Some true associations may not be replicated regardless of the sample size of the study.
Garcia-Barceló
Maria-Mercè
MM
Department of Surgery of the Li Ka-shing, Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China.
Miao
Xiaoping
X
Tang
Clara S
CS
So
Hon-Cheong
HC
Tang
Waikiu
W
Leon
Thomas Y Y
TY
So
Manting
M
Yip
Benjamin
B
Chen
Ronald Y L
RY
Cheung
Eric F C
EF
Chen
Eric Y H
EY
Li
Tao
T
Tam
Paul
P
Cherny
Stacey S
SS
Sham
Pak C
PC
D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D020890:Neuregulin-1 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012559:Schizophrenia / Q000235:genetics*
C094131:NRG1 protein, human; D020890:Neuregulin-1