Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven single nucleotide polymorphisms (SNPs) present on 13q32 were detected among 124 British family trios consisting of fathers, mothers and affected offspring with schizophrenia. The transmission disequilibrium test (TDT) demonstrated that of these 7 SNPs, rs626716, a T to C base change at the KPNB3 locus, was the only SNP associated with schizophrenia (chi(2) = 7.71, P = 0.005) although the global P-value given by a permutation test was 0.04 for 100 permutations. Of 248 parents, 20 were heterozygous. These heterozygous parents had transmitted 4 T-alleles and 16 C-alleles to their affected offspring. To further validate the rs626716 association, we analysed a haplotype system composed of 3 SNPs at the KPNB3 locus. The result showed that the KPNB3 haplotypes were also associated with schizophrenia (chi(2) = 10.18, d.f. = 2, P = 0.006). Because the KPNB3 finding has been replicated in a Chinese population, it could be hypothesized that the KPNB3 locus may contain a disease-causing variant for schizophrenia.
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PMID:The KPNB3 locus is associated with schizophrenia. 1536 20

Recent studies suggest that both the KPNB3 gene and the KPNA3 gene in the long arm of chromosome 13 (13q) are associated with schizophrenia. Because these two genes belong to the same family of karyopherins, their combined effect on illness was investigated among 238 Chinese family trios consisting of fathers, mothers and affected offspring with schizophrenia. We detected three single nucleotide polymorphisms (SNPs), including rs626716 at the KPNB3 locus, and rs3782929 and rs3736830 at the KPNA3 locus. The transmission disequilibrium test (TDT) showed allelic association for rs626716 (X2=10.77, P=0.001) and for rs3782929 (X2=4.89, P=0.027) but not for rs3736830 (X2=0.29, P=0.59). Although the conditional test did not show association either for the rs626716-rs3782929 combinations (X2=1.329, d.f.=2, P=0.514) or for the rs626716-rs3736830 combinations (X2=0.606, d.f.=2, P=0.739), the 1-d.f. test showed association for the rs626716(C)-rs3782929(G) combination (X2=10.79, P=0.001) and for the rs626716(C)-rs3736830(G) combination (X2=8.64, P=0.003). The present work suggests that the combination of the KPNA3 gene and the KPNB3 gene may increase a genetic risk for schizophrenia.
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PMID:A combined effect of the KPNA3 and KPNB3 genes on susceptibility to schizophrenia. 1664 22