Insights into the Genetic Underpinnings of Endocrine Traits from Large-Scale Genome-Wide Association Studies

Cousminer Diana L.; Grant Struan F. A.

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Insights into the Genetic Underpinnings of Endocrine Traits from Large-Scale Genome-Wide Association Studies

机译：大规模基因组关联研究中内分泌性状的遗传基因见解

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Great strides have been made in genetic association studies of endocrine traits and diseases, with hundreds or thousands of variants associated with height, body mass index, bone density, pubertal timing, and diabetes in recent years. The common variants associated with these traits explain up to half of the trait variation owing to genetic factors, and when aggregated into polygenic risk scores, can also impact clinically relevant phenotypes at the tail ends of the trait distributions. However, pediatric studies tend to lag behind, and it is often unclear how adult-associated variants behave across life.

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《Endocrinology and Metabolism Clinics of North America》 |2020年第4期|共16页
作者
Cousminer Diana L.; Grant Struan F. A.;
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作者单位

Childrens Hosp Philadelphia Ctr Spatial &

Funct Genom Dept Pediat Div Human Genet 3615 Civ Ctr;

Childrens Hosp Philadelphia Ctr Spatial &

Funct Genom Dept Pediat Div Human Genet 3615 Civ Ctr;

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正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Genome-wide association studies; BMI; Height; Puberty; Diabetes; Bone density; Endocrine traits;

机译：基因组 - 范围协会研究;BMI;高度;青春期;糖尿病;骨密度;内分泌特征;

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Insights into the Genetic Underpinnings of Endocrine Traits from Large-Scale Genome-Wide Association Studies

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