Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis.
Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis.
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DOI：
10.1371/journal.pone.0020589
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发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
Ozawa H
中科院分区：
文献类型：
--
作者：
Kurotaki N;Tasaki S;Mishima H;Ono S;Imamura A;Kikuchi T;Nishida N;Tokunaga K;Yoshiura K;Ozawa H
最近发展的高分辨率DNA微阵列，其中数十万个单核苷酸多态(SNPs)进行了基因分型，使快速识别复杂疾病的易感基因成为可能。这些SNP的簇可能显示出纯合性(RoHS)，可以分析与疾病的关联。对父母是近亲的患者进行分析，可以在他们的后代中寻找纯合子片段。在这里，使用Affymetrix®基因组范围的人类SNP阵列5.0来确定RoHS，我们对9名父母是近亲的精神分裂症(SCZ)患者进行了基因分型。我们在至少3个个体的第1、3、4、5、6、7、8、9、10、11、12、13、16、17、19、20和21号染色体上发现了重叠的RoHS。之前只有5号染色体上的基因被报道过。染色体5q23.3-q31.1上的RoHS包括候选基因组氨酸三联体核苷酸结合蛋白1(HINT1)和酰辅酶A合成酶长链家族成员6(ACSL6)。考虑到SCZ的高度杂合性，其他重叠的RoHS可能包含新的罕见的隐性变异，这些变异在我们的样本中专门影响SCZ。对父母是近亲的患者的分析可能会为精神疾病的基因分析提供新的见解。
The recent development of high-resolution DNA microarrays, in which hundreds of thousands of single nucleotide polymorphisms (SNPs) are genotyped, enables the rapid identification of susceptibility genes for complex diseases. Clusters of these SNPs may show runs of homozygosity (ROHs) that can be analyzed for association with disease. An analysis of patients whose parents were first cousins enables the search for autozygous segments in their offspring. Here, using the Affymetrix® Genome-Wide Human SNP Array 5.0 to determine ROHs, we genotyped 9 individuals with schizophrenia (SCZ) whose parents were first cousins. We identified overlapping ROHs on chromosomes 1, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 16, 17, 19, 20, and 21 in at least 3 individuals. Only the locus on chromosome 5 has been reported previously. The ROHs on chromosome 5q23.3–q31.1 include the candidate genes histidine triad nucleotide binding protein 1 (HINT1) and acyl-CoA synthetase long-chain family member 6 (ACSL6). Other overlapping ROHs may contain novel rare recessive variants that affect SCZ specifically in our samples, given the highly heterozygous nature of SCZ. Analysis of patients whose parents are first cousins may provide new insights for the genetic analysis of psychiatric diseases.
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影响因子：
56.9
作者：
Morrow, Eric M.;Yoo, Seung-Yun;Flavell, Steven W.;Kim, Tae-Kyung;Lin, Yingxi;Hill, Robert Sean;Mukaddes, Nahit M.;Balkhy, Soher;Gascon, Generoso;Hashmi, Asif;Al-Saad, Samira;Ware, Janice;Joseph, Robert M.;Greenblatt, Rachel;Gleason, Danielle;Ertelt, Julia A.;Apse, Kira A.;Bodell, Adria;Partlow, Jennifer N.;Barry, Brenda;Yao, Hui;Markianos, Kyriacos;Ferland, Russell J.;Greenberg, Michael E.;Walsh, Christopher A.
通讯作者：
Walsh, Christopher A.
涵盖 PDZ-GEF2、LOC728637 和 ACSL6 的单倍型与汉族精神分裂症的关联
影响因子：
4
作者：
Luo, X-j;Diao, H-b;Su, B.
通讯作者：
Su, B.
影响因子：
4.5
作者：
Mansour, Hader;Fathi, Warda;Klei, Lambertus;Wood, Joel;Chowdari, Kodavali;Watson, Annie;Eissa, Ahmed;Elassy, Mai;Ali, Ibtihal;Salah, Hala;Yassin, Amal;Tobar, Salwa;El-Boraie, Hala;Gaafar, Hanan;Ibrahim, Nahed E.;Kandil, Kareem;El-Bahaei, Wafaa;El-Boraie, Osama;Alatrouny, Mohamed;El-Chennawi, Farha;Devlin, Bernie;Nimgaonkar, Vishwajit L.
通讯作者：
Nimgaonkar, Vishwajit L.
DOI：
10.1073/pnas.191519098
发表时间：
2001-09-25
影响因子：
11.1
作者：
McInnes, LA;Service, SK;Chen, H
通讯作者：
Chen, H
影响因子：
64.8
作者：
Gibbs, RA;Belmont, JW;Tanaka, T
通讯作者：
Tanaka, T