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Genetics of endocrine disorders in the era of genome-wide association studies

机译:全基因组关联研究时代的内分泌疾病遗传学

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摘要

Ali endocrine events and disorders such as the metabolic syndrome, diabetes, osteoporosis, menarche, menopause and the related serum sex steroid levels are heterogeneous, complex traits that have a major impact on human health and quality of life. Linkage analysis and candidate gene association analyses have been the primary methods to identify susceptibility loci for these phenotypic traits. However, during the past decade, the advent of the Human Genome Project and the HapMap project, together with high-throughput genotyping technologies and statistical methods have revolutionized the field of genetic research, enabling large-scale genome-wide association studies (GWAS). Using this approach, it has become feasible to systematically search the entire human genome for common variants, so called single nucleotide polymorphisms (SNPs), which are associated with a particular phe-notype or disorder. This Special Issue of Molecular and Cellular Endocrinology provides an overview of the newly identified genetic architecture of endocrine disorders using the GWAS approach.
机译:阿里内分泌事件和疾病,例如代谢综合征,糖尿病,骨质疏松症,初潮,更年期以及相关的血清性类固醇水平是异质性,复杂特征,对人类健康和生活质量产生重大影响。连锁分析和候选基因关联分析已成为识别这些表型性状易感基因座的主要方法。然而,在过去的十年中,人类基因组计划和HapMap项目的出现,以及高通量基因分型技术和统计方法,彻底改变了基因研究领域,从而实现了大规模的全基因组关联研究(GWAS)。使用这种方法,系统地搜索整个人类基因组以寻找与特定表型或疾病相关的常见变异(所谓的单核苷酸多态性(SNP))已变得可行。本期《分子和细胞内分泌学专刊》概述了使用GWAS方法新近鉴定的内分泌疾病的遗传结构。

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