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Candidate gene polymorphisms among North Indians and their association with schizophrenia in a case-control study

机译:病例对照研究显示北印度人候选基因多态性与精神分裂症的关系

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摘要

Knowledge of candidate gene polymorphisms in a population is useful for a variety of gene-disease association studies, particularly for some complex traits. A number of candidate genes, a majority of them from the monoaminergic pathway in the brain, have been very popular in association studies with schizophrenia, a neuropsychiatric disorder. In this study diallelic/multiallelic polymorphisms in some dopaminergic, serotonergic and membrane-phospholipid-related genes have been evaluated in a control population recruited from North India. Association, if any, of these allelic variants with schizopherenia has been tested using a case-control approach. The case data have been taken from our published family-based association studies in schizophrenia. Of the eight genes tested in this study, association with schizophrenia was observed for only two gene polymorphisms, one in the promoter region of the serotonin 2A receptor gene and the other in the tryptophan hydroxylase gene. One new allele for the dopamine transporter gene (with eight repeats, 570-bp size), not reported in any population so far, has been identified in one individual in our sample. The data generated in this study, besides providing a normative background for various disease association studies, are a significant contribution to the population-specific genome database, a currently growing requirement.
机译:人群中候选基因多态性的知识可用于各种基因疾病关联研究,尤其是对于某些复杂性状。许多候选基因,其中大部分来自大脑中的单胺能途径,在与精神分裂症(一种神经精神疾病)的关联研究中非常受欢迎。在这项研究中,已经从印度北部招募的对照人群中评估了一些多巴胺能,血清素能和膜磷脂相关基因中的拨号/多等位基因多态性。这些等位基因变体与精神分裂症的关联(如果有)已使用病例对照方法进行了测试。病例数据来自我们已发表的基于精神分裂症的家庭关联研究。在这项研究中测试的八个基因中,仅两个基因多态性与精神分裂症相关,一个在血清素2A受体基因的启动子区域,另一个在色氨酸羟化酶基因。多巴胺转运蛋白基因的一个新等位基因(有8个重复序列,大小为570-bp)到目前为止尚未在任何人群中报道,已在我们的样本中鉴定出一个个体。这项研究中产生的数据,除了为各种疾病关联研究提供了规范的背景外,还对特定人群基因组数据库(目前日益增长的需求)做出了重要贡献。

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