Improved genetic risk scoring algorithm for type 1 diabetes prediction.
Improved genetic risk scoring algorithm for type 1 diabetes prediction.
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DOI：
10.1111/pedi.13310
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发表时间：
2022-05
影响因子：
3.4
通讯作者：
Hakonarson H
中科院分区：
文献类型：
--
作者：
Qu HQ;Qu J;Glessner J;Liu Y;Mentch F;Chang X;March M;Li J;Roizen JD;Connolly JJ;Sleiman P;Hakonarson H
1型糖尿病（T1D）的准确风险预测有助于在β-胰岛细胞不可逆破坏之前进行早期干预和识别风险因素，并可显着改善T1D预防和临床护理。Sharp等人（2019）开发了一种T1D遗传风险评分（GRS）系统（T1D-GRS 2），能够预测欧洲血统儿童的T1D风险。T1D-GRS 2是基于致病性遗传变异开发的，因此可能适用于少数群体，而T1D的跨种族GRS可能会避免由于少数群体缺乏基因组信息而导致的健康差异加剧。在这里，我们描述了一个T1D-GRS2计算器在两个独立的队列，包括非洲裔美国人（AA）的儿童和欧洲裔美国人（EA）的儿童验证。参与者由费城儿童医院（CHOP）的应用基因组学中心（CAG）招募。这表明GRS2适用于AA队列中的T1D风险预测，而不同人群需要特定的阈值。该研究强调了通过包含额外的遗传标记进一步改善T1D-GRS2性能的潜力。
Precise risk prediction of type 1 diabetes (T1D) facilitates early intervention and identification of risk factors prior to irreversible beta-islet cell destruction, and can significantly improve T1D prevention and clinical care. Sharp et al. (2019) developed a genetic risk scoring (GRS) system for T1D (T1D-GRS2) capable of predicting T1D risk in children of European ancestry. The T1D-GRS2 was developed on the basis of causal genetic variants, thus may be applicable to minor populations, while a trans-ethnic GRS for T1D may avoid the exacerbation of health disparities due to the lack of genomic information in minorities. Here, we describe a T1D-GRS2 calculator validated in two independent cohorts, including African American (AA) children and European American (EA) children. Participants were recruited by the Center for Applied Genomics (CAG) at the Children’s Hospital of Philadelphia (CHOP). It demonstrates that GRS2 is applicable to the T1D risk prediction in the AA cohort, while population-specific thresholds are needed for different populations. The study highlights the potential to further improve T1D-GRS2 performance with the inclusion of additional genetic markers.
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影响因子：
30.8
作者：
Onengut-Gumuscu, Suna;Chen, Wei-Min;Burren, Oliver;Cooper, Nick J.;Quinlan, Aaron R.;Mychaleckyj, Josyf C.;Farber, Emily;Bonnie, Jessica K.;Szpak, Michal;Schofield, Ellen;Achuthan, Premanand;Guo, Hui;Fortune, Mary D.;Stevens, Helen;Walker, Neil M.;Ward, Lucas D.;Kundaje, Anshul;Kellis, Manolis;Daly, Mark J.;Barrett, Jeffrey C.;Cooper, Jason D.;Deloukas, Panos;Todd, John A.;Wallace, Chris;Concannon, Patrick;Rich, Stephen S.
通讯作者：
Rich, Stephen S.
影响因子：
30.8
作者：
Barrett, Jeffrey C.;Clayton, David G.;Concannon, Patrick;Akolkar, Beena;Cooper, Jason D.;Erlich, Henry A.;Julier, Cecile;Morahan, Grant;Nerup, Jorn;Nierras, Concepcion;Plagnol, Vincent;Pociot, Flemming;Schuilenburg, Helen;Smyth, Deborah J.;Stevens, Helen;Todd, John A.;Walker, Neil M.;Rich, Stephen S.
通讯作者：
Rich, Stephen S.
影响因子：
3.7
作者：
Jia X;Zha T;Wu B;Zhang Y;Chen W;Wang X;Yu H;He G
通讯作者：
He G
影响因子：
4.5
作者：
Plagnol V;Howson JM;Smyth DJ;Walker N;Hafler JP;Wallace C;Stevens H;Jackson L;Simmonds MJ;Type 1 Diabetes Genetics Consortium;Bingley PJ;Gough SC;Todd JA
通讯作者：
Todd JA
影响因子：
56.9
作者：
Ostrov, DA;Shi, WX;Nathenson, SG
通讯作者：
Nathenson, SG