Evaluating the estimation of genetic correlation and heritability using summary statistics.
Evaluating the estimation of genetic correlation and heritability using summary statistics.
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DOI：
10.1007/s00438-021-01817-7
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发表时间：
2021-11
期刊：
影响因子：
--
通讯作者：
Schumacher FR
中科院分区：
文献类型：
--
作者：
Zhang J;Schumacher FR
虽然最近提出了新的统计方法量化祖先不同群体之间的性状和疾病的共享遗传力，但在不同情况下对这些方法进行彻底评估仍然是难以捉摸的。Brown等人提出了Popcorn方法，仅使用汇总统计量来估计共享遗传力，即遗传相关。在这里，我们在几个参数和情况下评估Popcorn：样本量、SNP数量、外部参考组的样本量、各种人群对、不适当的外部参考组以及涉及的混合人群。我们的研究结果确定了外部参考组的最小样本量、汇总统计量和精确估计遗传相关性和遗传力所需的SNP数量。此外，产生准确和稳定估计所需的个体和SNP数量与爆米花的遗传力成正比。参考样本组的错误表达高估了20%的遗传相关性和60%的遗传力。最后，将爆米花应用于同质（EUR）和混合（ASW）群体低估了15%的遗传相关性。尽管估计祖先群体之间共享遗传力的统计方法将提供新的病因学见解，但需要谨慎，确保结果基于适当的样本量、SNP数量以及参考样本组对发现群体的普遍性。在线版本包含补充材料，可通过10.1007/s 00438 -021-01817-7获得。
While novel statistical methods quantifying the shared heritability of traits and diseases between ancestral distinct populations have been recently proposed, a thorough evaluation of these approaches under differing circumstances remain elusive. Brown et al. proposed the method Popcorn to estimate the shared heritability, i.e. genetic correlation, using only summary statistics. Here, we evaluate Popcorn under several parameters and circumstances: sample size, number of SNPs, sample size of external reference panel, various population pairs, inappropriate external reference panel, and admixed population involved. Our results determined the minimum sample size of the external reference panel, summary statistics, and number of SNPs required to accurately estimate both the genetic correlation and heritability. Moreover, the number of individuals and SNPs required to produce accurate and stable estimates was directly proportional with heritability in Popcorn. Misrepresentation of the reference panel overestimated the genetic correlation by 20% and heritability by 60%. Lastly, applying Popcorn to homogeneous (EUR) and admixed (ASW) populations underestimated the genetic correlation by 15%. Although statistical approaches estimating the shared heritability between ancestral populations will provide novel etiologic insight, caution is required ensuring results are based on the appropriate sample size, number of SNPs, and the generalizability of the reference panel to the discovery populations. The online version contains supplementary material available at 10.1007/s00438-021-01817-7.
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影响因子：
30.8
作者：
Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
通讯作者：
Neale, Benjamin M.
DOI：
10.1016/j.jaac.2010.06.008
发表时间：
2010-09
影响因子：
13.3
作者：
Neale BM;Medland SE;Ripke S;Asherson P;Franke B;Lesch KP;Faraone SV;Nguyen TT;Schäfer H;Holmans P;Daly M;Steinhausen HC;Freitag C;Reif A;Renner TJ;Romanos M;Romanos J;Walitza S;Warnke A;Meyer J;Palmason H;Buitelaar J;Vasquez AA;Lambregts-Rommelse N;Gill M;Anney RJ;Langely K;O'Donovan M;Williams N;Owen M;Thapar A;Kent L;Sergeant J;Roeyers H;Mick E;Biederman J;Doyle A;Smalley S;Loo S;Hakonarson H;Elia J;Todorov A;Miranda A;Mulas F;Ebstein RP;Rothenberger A;Banaschewski T;Oades RD;Sonuga-Barke E;McGough J;Nisenbaum L;Middleton F;Hu X;Nelson S;Psychiatric GWAS Consortium: ADHD Subgroup
通讯作者：
Psychiatric GWAS Consortium: ADHD Subgroup
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
30.8
作者：
Horikawa, Y;Oda, N;Bell, GI
通讯作者：
Bell, GI
影响因子：
5.8
作者：
Lee, S. H.;Yang, J.;Wray, N. R.
通讯作者：
Wray, N. R.