| 1 | 是。J. Hum。基因。2007年4月80日：664-72 |
|---|---|
| PMID | 17357072 |
| 标题 | A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia. |
| 抽象的 | Previous linkage analyses of families with multiple cases of精神分裂症我们和其他人证实了11q22-24区域染色体的参与精神分裂症，LOD得分为3.4和3.1。现在，我们报告了在伦敦大学学院（UCL）的496例病例和488个超级对照组的样本中确定的11q22-24区域中易感基因的精细映射。然后，通过研究由858例和591个对照组成的阿伯丁样本进行确认（总共2,433个人：1,354，有1,354精神分裂症和1,079个控件）。七个微卫星或单核苷酸多态性（SNP）标记，位于或附近FXYD6基因表现出与经验上显着的等位基因关联精神分裂症in the UCL sample (for D11S1998, P=.021; for rs3168238, P=.009; for TTTC20.2, P=.048; for rs1815774, P=.049; for rs4938445, P=.010; for rs4938446,p = .025;对于rs497768，p = .023）。还发现几种单倍型与精神分裂症;例如，发现包含标记物RS10790212-RS4938445-RS497768的单倍型HAP-F21与精神分裂症, by a global permutation test (P=.002). Positive markers in the UCL sample were then genotyped in the Aberdeen sample. Two of these SNPs were found to be associated with精神分裂症in the Scottish sample (for rs4938445, P=.044; for rs497768, P=.037). The Hap-F21 haplotype also showed significant association with精神分裂症in the Aberdeen sample, with the same alleles being associated (P=.013). TheFXYD6基因编码一种称为“磷霍普林”的蛋白质，该蛋白在被认为涉及的大脑区域中高度表达精神分裂症。该蛋白质通过调节Na，K-ATPase的动力学特性来发挥蛋白质的功能。病因学基础对的变化FXYD6或在相关的启动子/对照区域中可能导致磷霍普林的异常功能或表达，并提高遗传易感性精神分裂症。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 2 | >。Lett. 2008 Jun 438: 70-5 |
| PMID | 18455306 |
| 标题 | 一项含有离子转运调节剂6（FXYD6）基因的FXYD结构域编码磷霍普林的基因的遗传关联研究，对日本人群中的精神分裂症敏感。 |
| 抽象的 | 这FXYD domain containing ion transport regulator 6 (FXYD6）基因位于11号染色体（11q23.3）的区域内，许多基因组扫描已显示为最公认的联系之一精神分裂症。FXYD6encodes the protein phosphohippolin, which is primarily expressed in the brain. Phosphohippolin modulates the kinetic activity of Na,K-ATPase and has long-term physiological importance in maintaining cation homeostasis. A recent study reported thatFXYD6与之相关精神分裂症在英国样品中。应用基于基因的关联概念，我们进行了一项有关FXYD6和精神分裂症在日本人群中，样本包括2026名受试者（906个受试者精神分裂症s and 1120 controls). After linkage disequilibrium analysis, 23 single nucleotide polymorphisms (SNPs) were genotyped using 5'-exonuclease allelic discrimination assay. We found a significant association of two SNPs (rs11216573; genotypic P value: 0.022 and rs555577; genotypic P value: 0.026, allelic P value: 0.011, uncorrected). Nominal P values did not survive correction for multiple testing (rs11216573; genotypic P value: 0.47 and rs555577; genotypic P value: 0.55, allelic P value: 0.24, after SNPSpD correction). No association was observed between精神分裂症patients and controls in allelic, genotypic and haplotypic analyses. Our findings suggest thatFXYD6is unlikely to be related to the development of精神分裂症在日本人口中。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 3 | >。Lett. 2008 Jun 438: 70-5 |
| PMID | 18455306 |
| 标题 | 一项含有离子转运调节剂6（FXYD6）基因的FXYD结构域编码磷霍普林的基因的遗传关联研究，对日本人群中的精神分裂症敏感。 |
| 抽象的 | 这FXYD domain containing ion transport regulator 6 (FXYD6）基因位于11号染色体（11q23.3）的区域内，许多基因组扫描已显示为最公认的联系之一精神分裂症。FXYD6encodes the protein phosphohippolin, which is primarily expressed in the brain. Phosphohippolin modulates the kinetic activity of Na,K-ATPase and has long-term physiological importance in maintaining cation homeostasis. A recent study reported thatFXYD6与之相关精神分裂症在英国样品中。应用基于基因的关联概念，我们进行了一项有关FXYD6和精神分裂症在日本人群中，样本包括2026名受试者（906个受试者精神分裂症s and 1120 controls). After linkage disequilibrium analysis, 23 single nucleotide polymorphisms (SNPs) were genotyped using 5'-exonuclease allelic discrimination assay. We found a significant association of two SNPs (rs11216573; genotypic P value: 0.022 and rs555577; genotypic P value: 0.026, allelic P value: 0.011, uncorrected). Nominal P values did not survive correction for multiple testing (rs11216573; genotypic P value: 0.47 and rs555577; genotypic P value: 0.55, allelic P value: 0.24, after SNPSpD correction). No association was observed between精神分裂症patients and controls in allelic, genotypic and haplotypic analyses. Our findings suggest thatFXYD6is unlikely to be related to the development of精神分裂症在日本人口中。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 4 | 是。J. Med。基因。B Neuropsychiatr。基因。2010年9月153b：1221-7 |
| PMID | 20468077 |
| 标题 | Failure to confirm genetic association of the FXYD6 gene with schizophrenia: the Japanese population and meta-analysis. |
| 抽象的 | 含FXYD域的离子传输调节器6（FXYD6）基因编码通过改变Na，K-ATPase的动力学特性来调节细胞离子转运的磷霍普林。磷霍普林在与精神分裂症。这FXYD6gene is located at chromosome 11q22-24, one of the most established linkage regions for精神分裂症。这refore, it may be possible that genetic variants inFXYD6，包括调节基因组元素可能会导致磷霍普林的异常功能或表达，并增加遗传风险精神分裂症。A previous study suggested that polymorphisms inFXYD6与精神分裂症在英国样品中。但是，日本人口已经报道了矛盾的结果。在这项研究中，我们旨在使用来自种族均匀的日本人口的不同样品测试先前的遗传关联发现（1,060精神分裂症患者和1,060个年龄和性别匹配的对照）。来自FXYD6Gene，我们检查了六种单核苷酸多态性（RS11216573，RS555577，RS1815774，RS4938445，RS4938446和RS4977768），所有这些都是先前已分析的。我们没有在日本样品中检测到任何明显的等位基因，基因型或单倍型关联。结合了先前和目前研究的荟萃分析还表明FXYD6基因与精神分裂症。We conclude that theFXYD6基因对易感性没有重大影响精神分裂症跨种群。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 5 | 是。J. Med。基因。B Neuropsychiatr。基因。2010年9月153b：1221-7 |
| PMID | 20468077 |
| 标题 | Failure to confirm genetic association of the FXYD6 gene with schizophrenia: the Japanese population and meta-analysis. |
| 抽象的 | 含FXYD域的离子传输调节器6（FXYD6）基因编码通过改变Na，K-ATPase的动力学特性来调节细胞离子转运的磷霍普林。磷霍普林在与精神分裂症。这FXYD6gene is located at chromosome 11q22-24, one of the most established linkage regions for精神分裂症。这refore, it may be possible that genetic variants inFXYD6，包括调节基因组元素可能会导致磷霍普林的异常功能或表达，并增加遗传风险精神分裂症。A previous study suggested that polymorphisms inFXYD6与精神分裂症在英国样品中。但是，日本人口已经报道了矛盾的结果。在这项研究中，我们旨在使用来自种族均匀的日本人口的不同样品测试先前的遗传关联发现（1,060精神分裂症患者和1,060个年龄和性别匹配的对照）。来自FXYD6Gene，我们检查了六种单核苷酸多态性（RS11216573，RS555577，RS1815774，RS4938445，RS4938446和RS4977768），所有这些都是先前已分析的。我们没有在日本样品中检测到任何明显的等位基因，基因型或单倍型关联。结合了先前和目前研究的荟萃分析还表明FXYD6基因与精神分裂症。We conclude that theFXYD6基因对易感性没有重大影响精神分裂症跨种群。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 6 | J Psychiatr Res 2010 Apr 44：409-12 |
| PMID | 20149392 |
| 标题 | No association between the FXYD6 gene and schizophrenia in the Chinese Han population. |
| 抽象的 | Choudhury等。确定FXYD6as a susceptible gene for精神分裂症in the London and Aberdeen populations. We genotyped D11S1998 and 8 SNPs (rs869789, rs11216567, rs10790212, rs876797, rs4938445, rs497768, rs11216598, rs11605223) in a Chinese sample consisting of 1514精神分裂症patients and 1514 healthy controls. We also compared the expression levels ofFXYD6in lymphocytes in 86精神分裂症患者和94个对照。在D11S1998或8 SNP中未检测到任何关联。患者和对照组之间的表达水平没有发现差异。我们的研究表明FXYD6不发挥作用精神分裂症在中国人口中。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 7 | Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2011 Oct 28: 539-42 |
| PMID | 21983730 |
| 标题 | [基于家庭的FXYD6基因多态性和精神分裂症的关联研究]。 |
| 抽象的 | To study the association between the single nucleotide polymorphisms (SNPs) inFXYD6基因和精神分裂症在家庭人群中。 六个SNP（RS10790212，RS11544201，RS555577，RS1815774，RS4938446和RS497768）FXYD6通过等位基因特异性PCR方法在101个核家族中进行基因分型，并进行了传输不平衡测试（TDT）。 SNPs rs10790212 and rs11544201 showed significant association with精神分裂症（p <0.05）。此外，精神分裂症发现单倍型RS10790212-RS11544201（p <0.05）。 FXYD6基因可能在精神分裂症susceptibility and functional analysis ofFXYD6需要。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 8 | Biochem. Biophys. Res. Commun. 2011 Feb 405: 118-21 |
| PMID | 21216238 |
| 标题 | FXYD6基因与精神分裂症之间的新型复制关联。 |
| 抽象的 | FXYD6基因位于染色体区域11q22-Q24中，先前的研究表明与精神分裂症。However, the subsequent studies failed to replicate this finding. To investigate the relationship betweenFXYD6轨迹和精神分裂症在中国人口中，我们在该区域中基因分型六个单核苷酸多态性（SNP）FXYD6在1142名中国受试者（576例和566个对照）中，进行了关联分析。与精神分裂症和the marker rs11544201 (P=0.0028) and the haplotype rs10790212-rs11544201 (global P=0.005) were found. Our results support thatFXYD6是一个易感基因精神分裂症。Replication of larger samples and functional analysis ofFXYD6需要。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |
| 9 | PLOS ONE 2015 -1 10：E0133404 |
| PMID | 26193471 |
| 标题 | Network-Based Analysis of Schizophrenia Genome-Wide Association Data to Detect the Joint Functional Association Signals. |
| 抽象的 | 精神分裂症is a common psychiatric disorder with high heritability and complex genetic architecture. Genome-wide association studies (GWAS) have identified several significant loci associated with精神分裂症。However, the explained heritability is still low. Growing evidence has shown精神分裂症is attributable to multiple genes with moderate effects. In-depth mining and integration of GWAS data is urgently expected to uncover disease-related gene combination patterns. Network-based analysis is a promising strategy to better interpret GWAS to identify disease-related network modules. We performed a network-based analysis on three independent精神分裂症GWASs by using a refined analysis framework, which included a more accurate gene P-value calculation, dynamic network module searching algorithm and detailed functional analysis for the obtained modules genes. The result generated 79 modules including 238 genes, which form a highly connected subnetwork with more statistical significance than expected by chance. The result validated several reported disease genes, such as MAD1L1, MCC, SDCCAG8, VAT1L, MAPK14, MYH9 andFXYD6, and also obtained several novel candidate genes and gene-gene interactions. Pathway enrichment analysis of the module genes suggested they were enriched in several neural and immune system related pathways/GO terms, such as neurotrophin signaling pathway, synaptosome, regulation of protein ubiquitination, and antigen processing and presentation. Further crosstalk analysis revealed these pathways/GO terms were cooperated with each other, and identified several important genes, which might play vital roles to connect these functions. Our network-based analysis of精神分裂症GWASs will facilitate the understanding of genetic mechanisms of精神分裂症。 |
| SCZ Keywords | 精神分裂症，精神分裂症，精神分裂症患者 |