Washington VA Medical Center, Washington, District of Columbia.
Georgetown University Medical Center, Virginia Commonwealth University, Richmond, Virginia.
Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):663-674. doi: 10.1002/ajmg.b.31037.
SNAP25 occurs on chromosome 20p12.2, which has been linked to schizophrenia in some samples, and recently linked to latent classes of psychotic illness in our sample. SNAP25 is crucial to synaptic functioning, may be involved in axonal growth and dendritic sprouting, and its expression may be decreased in schizophrenia. We genotyped 18 haplotype-tagging SNPs in SNAP25 in a sample of 270 Irish high-density families. Single marker and haplotype analyses were performed in FBAT and PDT. We adjusted for multiple testing by computing q values. Association was followed up in an independent sample of 657 cases and 411 controls. We tested for allelic effects on the clinical phenotype by using the method of sequential addition and 5 factor-derived scores of the OPCRIT. Nine of 18 SNPs had P values <0.05 in either FBAT or PDT for one or more definitions of illness. Several two-marker haplotypes were also associated. Subjects inheriting the risk alleles of the most significantly associated two-marker haplotype were likely to have higher levels of hallucinations and delusions. The most significantly associated marker, rs6039820, was observed to perturb 12 transcription-factor binding sites in in silico analyses. An attempt to replicate association findings in the case-control sample resulted in no SNPs being significantly associated. We observed robust association in both single marker and haplotype-based analyses between SNAP25 and schizophrenia in an Irish family sample. Although we failed to replicate this in an independent sample, this gene should be further tested in other samples.
SNAP25 位于 20p12.2 染色体上,该区域在一些样本中与精神分裂症相关,最近在我们的样本中与潜在的精神病类别相关。SNAP25 对突触功能至关重要,可能参与轴突生长和树突分枝,其表达可能在精神分裂症中降低。我们在一个由 270 个爱尔兰高密度家庭组成的样本中对 SNAP25 的 18 个单倍型标记 SNP 进行了基因分型。在 FBAT 和 PDT 中进行了单标记和单倍型分析。我们通过计算 q 值来调整多重检验。在一个由 657 例病例和 411 例对照组成的独立样本中进行了关联随访。我们使用顺序添加方法和 OPCRIT 的 5 个因子衍生评分,测试了等位基因对临床表型的影响。在一个或多个疾病定义中,18 个 SNP 中有 9 个在 FBAT 或 PDT 中具有 P 值<0.05。几个两标记单倍型也与疾病相关。继承风险等位基因的受试者可能具有更高水平的幻觉和妄想。最显著相关的标记物 rs6039820 在计算机分析中观察到扰乱了 12 个转录因子结合位点。在病例对照样本中复制关联发现的尝试导致没有 SNP 具有显著相关性。我们在一个爱尔兰家庭样本中观察到 SNAP25 与精神分裂症之间在单标记和单倍型分析中均具有稳健的关联。尽管我们在独立样本中未能复制这一结果,但该基因应在其他样本中进一步测试。