小柯机器人

近日，美国加州大学洛杉矶分校Alexander I. Young等研究人员合作从300万人的全基因组关联分析中对家庭内部和家庭之间的教育程度进行多基因预测。2022年3月31日，《自然—遗传学》杂志在线发表了这项成果。

研究人员在约300万个人的样本中进行了教育程度（EA）的全基因组关联研究（GWAS），并确定了3,952个大约不相关的全基因组显著的单核苷酸多态性（SNP）。一个全基因组的多基因预测因子，或多基因指数（PGI），解释了12-16%的EA变异，并对10种疾病的风险预测做出了贡献。

直接效应（即控制父母的PGI）解释了PGI与EA和其他表型的关联程度的大约一半。母源PGI之间的相关性大得多，不能仅仅与表型分类相一致，这意味着PGI相关因素的额外分类。在一个额外的加性模型的支配性偏差的GWAS中，研究人员没有发现全基因组显著的SNP，而一个单独的X染色体加性GWAS则发现了57个SNP。

附：英文原文

Title: Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

Author: Okbay, Aysu, Wu, Yeda, Wang, Nancy, Jayashankar, Hariharan, Bennett, Michael, Nehzati, Seyed Moeen, Sidorenko, Julia, Kweon, Hyeokmoon, Goldman, Grant, Gjorgjieva, Tamara, Jiang, Yunxuan, Hicks, Barry, Tian, Chao, Hinds, David A., Ahlskog, Rafael, Magnusson, Patrik K. E., Oskarsson, Sven, Hayward, Caroline, Campbell, Archie, Porteous, David J., Freese, Jeremy, Herd, Pamela, Watson, Chelsea, Jala, Jonathan, Conley, Dalton, Koellinger, Philipp D., Johannesson, Magnus, Laibson, David, Meyer, Michelle N., Lee, James J., Kong, Augustine, Yengo, Loic, Cesarini, David, Turley, Patrick, Visscher, Peter M., Beauchamp, Jonathan P., Benjamin, Daniel J., Young, Alexander I.

Issue&Volume: 2022-03-31

Abstract: We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12–16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI’s magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57.

DOI: 10.1038/s41588-022-01016-z

Source: https://www.nature.com/articles/s41588-022-01016-z

Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex