Copy number variations of chromosome 16p13.1 region associated with schizophrenia.
Copy number variations of chromosome 16p13.1 region associated with schizophrenia.
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DOI：
10.1038/mp.2009.101
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发表时间：
2011-01
影响因子：
11
通讯作者：
中科院分区：
文献类型：
--
作者：
染色体16p13.1区域的缺失和相互重复最近在几个自闭症和精神发育迟滞（MR）病例中被报道。由于在这两种疾病中发现的基因组拷贝数变异也可能与精神分裂症有关，我们使用微阵列数据检查了来自8个欧洲人群的4345名精神分裂症患者和35079名对照者在16p13.1位点的重复和缺失。我们发现，与对照组相比，精神分裂症病例中的重复和缺失增加了三倍，0.30%的病例与0.09%的对照组（P = 0.007），0.12%的病例与0.04%的对照组（P > 0.05）存在重复和缺失。该区域可以分为三个区间，由侧翼低拷贝重复序列定义。重复跨越区间I和II显示最显着（P = 0.00010）与精神分裂症。在病例中，重复和缺失携带者的发病年龄为12至35岁，大多数为男性，有精神疾病家族史。在一个单一的冰岛家庭，重复跨越间隔I和II是目前在两例精神分裂症，个别情况下，酗酒，注意缺陷多动障碍和诵读困难。该区域的候选基因包括NTAN 1和NDE 1。我们的结论是，重复，也许也删除染色体16p13.1，以前报道与自闭症和MR，也赋予精神分裂症的风险。
Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35 079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P = 0.007) and deletions in 0.12 % of cases and 0.04% of controls (P > 0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
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DOI：
10.1073/pnas.93.23.13060
发表时间：
1996-11-12
影响因子：
11.1
作者：
McInnes, LA;Escamilla, MA;Freimer, NB
通讯作者：
Freimer, NB
影响因子：
11
作者：
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通讯作者：
Mors, O
影响因子：
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作者：
Ekelund, J;Hennah, W;Peltonen, L
通讯作者：
Peltonen, L
影响因子：
30.8
作者：
Sharp, Andrew J.;Hansen, Sierra;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
影响因子：
21.3
作者：
Kamiya, A;Kubo, K;Sawa, A
通讯作者：
Sawa, A