GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.
文献类型：期刊论文
| 作者 | Liu JW1,2; Li M[*]3; Su B[*]1 |
| 刊名 | AMERICAN JOURNAL OF MEDICAL GENETICS PART B Neuropsychiatric Genetics
 |
| 出版日期 | 2016 |
| 卷号 | 171期号:8页码:1032–1040 |
| 关键词 | TSPAN18 genetic hitchhiking population history positive selection schizophrenia |
| 通讯作者 | sub@mail.kiz.ac.cn ; limingkiz@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | Genome-wide association studies (GWASs) have identified multiple schizophrenia (SCZ) risk variants for samples of European and East Asian descent, but most of the identified susceptibility variants are population-specific to either Europeans or East Asians. This strong genetic heterogeneity suggests that differential population histories may play a role in SCZ susceptibility. Here, we explored this possibility by examining the allele frequency divergence of 136 previously reported genome-wide SCZ risk SNPs between European and East Asian populations. Our results showed that two SNPs (rs11038167 and rs11038172) at TSPAN18, reported as genome-wide significant SCZ risk variants in Han Chinese, were entirely monomorphic in Europeans, indicating a deep between-population divergence at this gene locus. To explore the evolutionary history of TSPAN18 in East Asians, we conducted population genetic analyses including multiple neutrality tests, the haplotype-based iHS and EHH tests, as well as haplotype bifurcation map and network constructions. We found that the protective allele of rs11038172 (G allele) had a long extended haplotype with much slower decay compared to the A allele. The star-like shape of the G-allele-carrying haplotypes indicates a recent enrichment in East Asians. Together, the evidences suggest that the protective allele of rs11038172 has experienced recent Darwinian positive selection in East Asians. These findings provide new insights that may help explain the strong genetic heterogeneity in SCZ risk and previous inconsistent association results for SCZ among both Europeans and East Asians. |
| 收录类别 | SCI |
| 资助信息 | Strategic Priority Research Program of the Chinese Academy of Sciences; Grant number: XDB13010100; Grant sponsor: National Natural Science Foundation of China; Grant numbers: U1202225, 31130051; Grant sponsor: CAS Pioneer Hundred Talents Program. |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10072]  |
| 专题 | 昆明动物研究所_比较基因组学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 昆明动物研究所_遗传资源与进化国家重点实验室 昆明动物研究所_转化基因组 |
| 作者单位 | 1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 2.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China 3.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China |
| 推荐引用方式 GB/T 7714 | Liu JW,Li M[*],Su B[*]. GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART B Neuropsychiatric Genetics,2016,171(8):1032–1040. |
| APA | Liu JW,Li M[*],&Su B[*].(2016).GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians..AMERICAN JOURNAL OF MEDICAL GENETICS PART B Neuropsychiatric Genetics,171(8),1032–1040. |
| MLA | Liu JW,et al."GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.".AMERICAN JOURNAL OF MEDICAL GENETICS PART B Neuropsychiatric Genetics 171.8(2016):1032–1040. |
入库方式： OAI收割
来源：昆明动物研究所
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