{"title":"北印度人群中DISC1变异rs3738401与精神分裂症易感性的遗传关联","authors":"Indu Priya , Isar Sharma , Sakshi Sharma , Suruchi Gupta , Manu Arora , G.H. Rasool Bhat , Ritu Mahajan , Nisha Kapoor","doi":"10.1016/j.mgene.2021.100923","DOIUrl":null,"url":null,"abstract":"<div><p>DISC1 regulates signalling pathways which are involved in neuronal development, brain maturation like neuronal proliferation and processes involved in central nervous system development. The DISC1 gene is one of the potential candidate gene involved in Schizophrenia risk. In the present study, we performed case-control association study using TaqMan based chemistry in which a total of 382 individuals, 152 Schizophrenia patients and 230 healthy controls were genotyped to explore the association of rs3738401 and rs16854954 of DISC1 gene with susceptibility to Schizophrenia risk in North Indian population of Jammu region. The findings from the study revealed that rs3738401 was significantly associated with Schizophrenia and the G allele of rs3738401 is associated with increased risk for the disorder (OR = 1.66; [1.22–2.24 at 95%CI] P = 0.001) whereas other variant rs16854954 of DISC1 gene was not found to be associated with the disease(OR = 0.96, [0.71–1.30 at 95% CI] P = 0.75). The present study offers an important evidence on the genetic cause of DISC1 gene in North Indian population and further strengthens the GWAS findings on the role of DISC1 in schizophrenia risk. This study provides the holistic view about the Schizophrenia in Jammu region, North Indian population and it can be a hallmark if verified on a very large sample size (cohort).</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"29 ","pages":"Article 100923"},"PeriodicalIF":0.8000,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100923","citationCount":"0","resultStr":"{\"title\":\"Genetic association of DISC1 variant rs3738401 with susceptibility to Schizophrenia risk in North Indian population\",\"authors\":\"Indu Priya , Isar Sharma , Sakshi Sharma , Suruchi Gupta , Manu Arora , G.H. Rasool Bhat , Ritu Mahajan , Nisha Kapoor\",\"doi\":\"10.1016/j.mgene.2021.100923\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>DISC1 regulates signalling pathways which are involved in neuronal development, brain maturation like neuronal proliferation and processes involved in central nervous system development. The DISC1 gene is one of the potential candidate gene involved in Schizophrenia risk. In the present study, we performed case-control association study using TaqMan based chemistry in which a total of 382 individuals, 152 Schizophrenia patients and 230 healthy controls were genotyped to explore the association of rs3738401 and rs16854954 of DISC1 gene with susceptibility to Schizophrenia risk in North Indian population of Jammu region. The findings from the study revealed that rs3738401 was significantly associated with Schizophrenia and the G allele of rs3738401 is associated with increased risk for the disorder (OR = 1.66; [1.22–2.24 at 95%CI] P = 0.001) whereas other variant rs16854954 of DISC1 gene was not found to be associated with the disease(OR = 0.96, [0.71–1.30 at 95% CI] P = 0.75). The present study offers an important evidence on the genetic cause of DISC1 gene in North Indian population and further strengthens the GWAS findings on the role of DISC1 in schizophrenia risk. This study provides the holistic view about the Schizophrenia in Jammu region, North Indian population and it can be a hallmark if verified on a very large sample size (cohort).</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"29 \",\"pages\":\"Article 100923\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2021-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100923\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540021000748\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540021000748","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
DISC1调节参与神经元发育、脑成熟如神经元增殖和中枢神经系统发育过程的信号通路。DISC1基因是与精神分裂症风险相关的潜在候选基因之一。本研究采用TaqMan化学方法对382名个体、152名精神分裂症患者和230名健康对照进行了病例对照关联研究,探讨了查谟地区北印度人群中DISC1基因rs3738401和rs16854954与精神分裂症易感性的关系。研究结果显示,rs3738401与精神分裂症显著相关,rs3738401的G等位基因与精神分裂症风险增加相关(OR = 1.66;[1.22-2.24, 95%CI] P = 0.001),而DISC1基因的其他变异rs16854954未被发现与疾病相关(OR = 0.96, [0.71-1.30, 95%CI] P = 0.75)。本研究为北印度人群中DISC1基因的遗传原因提供了重要证据,并进一步加强了GWAS关于DISC1在精神分裂症风险中的作用的研究结果。这项研究提供了关于查谟地区精神分裂症的整体观点,北印度人口,如果在一个非常大的样本量(队列)上得到验证,它可以成为一个标志。
Genetic association of DISC1 variant rs3738401 with susceptibility to Schizophrenia risk in North Indian population
DISC1 regulates signalling pathways which are involved in neuronal development, brain maturation like neuronal proliferation and processes involved in central nervous system development. The DISC1 gene is one of the potential candidate gene involved in Schizophrenia risk. In the present study, we performed case-control association study using TaqMan based chemistry in which a total of 382 individuals, 152 Schizophrenia patients and 230 healthy controls were genotyped to explore the association of rs3738401 and rs16854954 of DISC1 gene with susceptibility to Schizophrenia risk in North Indian population of Jammu region. The findings from the study revealed that rs3738401 was significantly associated with Schizophrenia and the G allele of rs3738401 is associated with increased risk for the disorder (OR = 1.66; [1.22–2.24 at 95%CI] P = 0.001) whereas other variant rs16854954 of DISC1 gene was not found to be associated with the disease(OR = 0.96, [0.71–1.30 at 95% CI] P = 0.75). The present study offers an important evidence on the genetic cause of DISC1 gene in North Indian population and further strengthens the GWAS findings on the role of DISC1 in schizophrenia risk. This study provides the holistic view about the Schizophrenia in Jammu region, North Indian population and it can be a hallmark if verified on a very large sample size (cohort).
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍:
Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.