Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder
Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder
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DOI：
10.1002/ajmg.b.30306
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发表时间：
2006-09-05
影响因子：
2.8
通讯作者：
Makoff, Andrew J.
中科院分区：
文献类型：
--
作者：
Flomen, Rachel H.;Collier, David A.;Makoff, Andrew J.
精神分裂症和双相情感障碍是具有很强遗传因素的主要精神疾病。15q13 - q14区域的CHRNA7基因附近的标记已与精神分裂症的一种内表型——P50感觉门控障碍，以及精神分裂症本身和双相情感障碍相关联。我们测量了CHRNA7的多态性部分重复（CHRFAM7A）的拷贝数，并对CHRFAM7A外显子6内的一个多态性2bp缺失进行了基因分型。在这项研究中，对208名初步诊断为精神分裂症的先证者、217名诊断为双相情感障碍的患者以及28名患有分裂情感性或其他精神病性障碍的患者进行了检查，同时还检查了从苏格兰同一地区招募的197名对照者。对于这两种多态性，无论是按基因型还是等位基因总体来看，在精神分裂症和双相情感障碍中均未发现显著关联，但当将样本作为单一的精神病表型进行分析时，观察到CHRFAM7A缺失在基因型上有轻度显著关联（P = 0.04）。(c) 2006威利 - 利斯公司
Schizophrenia and bipolar disorder are major psychiatric diseases that have a strong genetic element. Markers in the vicinity of the CHRNA7 gene at 15q13-q14 have been linked with an endophenotype of schizophrenia, P50 sensory gating disorder, with schizophrenia itself and with bipolar disorder. We have measured the copy number of the polymorphic partial duplication of CHRNA7 (CHRFAM7A) and genotyped a polymorphic 2bp deletion within exon 6 of CHRFAM7A. In this study, 208 probands with a primary diagnosis of schizophrenia, 217 with a diagnosis of bipolar affective disorder and 28 with schizoaffective or other psychotic disorders were examined together with 197 controls recruited from the same region in Scotland. No significant association was seen for schizophrenia and bipolar disorder by genotype or allele overall for either polymorphism., but a mildly significant association by genotype (P = 0.04) was observed for absence of CHRFAM7A when the sample was analyzed as a single psychosis phenotype. (c) 2006 Wiley-Liss, Inc.