NOTCH4 gene haplotype is associated with schizophrenia in African Americans
NOTCH4 gene haplotype is associated with schizophrenia in African Americans
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DOI：
10.1016/s0006-3223(03)00588-2
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发表时间：
2004-01-15
影响因子：
10.6
通讯作者：
Gelernter, J
中科院分区：
文献类型：
--
作者：
Luo, XG;Klempan, TA;Gelernter, J
背景资料：为探讨NOTCH 4基因与精神分裂症的相关性，本研究对123例AA精神分裂症患者、223例EA精神分裂症患者、85例AA健康对照者和211例EA健康对照者的NOTCH 4基因进行了单核苷酸多态性（single nucleotide polymorphism，SNPS）基因分型。研究的特异性标记为-1725T/G和-25T/C。采用卡方检验、Fisher精确检验和CLUMP软件比较患者和对照组之间的等位基因和单倍型频率。用3LOCUS程序计算这两个SNP之间的连锁不平衡（LD）。结果：单倍型-1725G/-257-在AA受试者中与精神分裂症相关（p = 0.0008），但在EA受试者中不相关。等位基因-1725G和等位基因-25T在AA和EA中均为阳性LD。结论：在LD患者中，NOTCH 4基因座的单倍型为-1725G/-25T，是由NOTCH 4基因的SNPs引起的。可能会增加AA患者对精神分裂症的易感性。这个基因座对精神分裂症风险的任何影响都是人群特异性的。
Background: The goal of this study was to investigate the relationship between the NOTCH4 gene and schizophrenia in African American (A-A) and European American (EA) subjects.Methods: Two single nucleotide polymorphisms (SNPS) at the NOTCH4 locus were genotyped in 123 AA schizophrenia patients, 223 EA schizophrenia patients, 85 AA healty control subjects, and 211 EA healthy control subjects. The specific markers studied were -1725T/G and -25T/C. Comparisons of allele and haplotype frequencies between patients and control subjects were performed with the chi-square test, the Fisher's Exact Test, and CLUMP software. Linkage disequilibrium (LD) between these two SNPs was calculated with the 3LOCUS program,Results: The haplotype-1725G/-257-associates to schizophrenia in AA subjects (p = .0008), but not in EA subjects. Alleles -1725G and allele -25T are in positive LD both in AAs and EAs. Allele and haplotype frequencies differ significantly between AAs and EAs.Conclusions: The haplotype -1725G/-25T at tbe NOTCH4 locus, which results from SNPs of NOTCH4 that are in LD. may increase susceptibility to schizophrenia in AAs. Any effect of this locus on risk for schizophrenia is population-specific.