Polygenic risk scores for prediction of breast cancer risk in Asian populations.
Polygenic risk scores for prediction of breast cancer risk in Asian populations.
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DOI：
10.1016/j.gim.2021.11.008
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发表时间：
2022-03
期刊：
影响因子：
--
通讯作者：
Teo SH
中科院分区：
文献类型：
--
作者：
Ho WK;Tai MC;Dennis J;Shu X;Li J;Ho PJ;Millwood IY;Lin K;Jee YH;Lee SH;Mavaddat N;Bolla MK;Wang Q;Michailidou K;Long J;Wijaya EA;Hassan T;Rahmat K;Tan VKM;Tan BKT;Tan SM;Tan EY;Lim SH;Gao YT;Zheng Y;Kang D;Choi JY;Han W;Lee HB;Kubo M;Okada Y;Namba S;BioBank Japan Project;Park SK;Kim SW;Shen CY;Wu PE;Park B;Muir KR;Lophatananon A;Wu AH;Tseng CC;Matsuo K;Ito H;Kwong A;Chan TL;John EM;Kurian AW;Iwasaki M;Yamaji T;Kweon SS;Aronson KJ;Murphy RA;Koh WP;Khor CC;Yuan JM;Dorajoo R;Walters RG;Chen Z;Li L;Lv J;Jung KJ;Kraft P;Pharoah PDB;Dunning AM;Simard J;Shu XO;Yip CH;Taib NAM;Antoniou AC;Zheng W;Hartman M;Easton DF;Teo SH
非欧洲人群在遗传学研究中的代表性不足，阻碍了乳腺癌多基因风险评分（PRS）的临床实施。我们的目的是使用最大的亚洲血统研究来开发PRS，并评估PRS在不同种族亚组之间的可转移性。发展数据集包括来自17项病例对照研究的138 309名妇女。使用聚类和阈值方法、套索惩罚回归、经验贝叶斯方法、贝叶斯多基因预测方法或多个PRS的线性组合生成PRS。在3项前瞻性研究（1592例事件病例）的89，898名女性中评价了这些PRS。表现最好的PRS（全基因组单核苷酸变异集[以前称为单核苷酸多态性]）每单位SD的风险比为1.62（95% CI = 1.46-1.80），受试者工作曲线下面积为0.635（95% CI = 0.622-0.649）。合并的亚洲和欧洲PRS（333个单核苷酸变异）的风险比/SD为1.53（95% CI = 1.37-1.71），受试者工作曲线下面积为0.621（95% CI = 0.608-0.635）。后一种PRS的分布在不同种族亚组中不同，证实了人群特异性校准对有效估计乳腺癌风险的重要性。在这项研究中，从多个祖先的关联数据开发的PRS，可以提高亚洲血统的妇女的风险分层。
Non-European populations are under-represented in genetics studies, hindering clinical implementation of breast cancer polygenic risk scores (PRSs). We aimed to develop PRSs using the largest available studies of Asian ancestry and to assess the transferability of PRS across ethnic subgroups. The development data set comprised 138,309 women from 17 case-control studies. PRSs were generated using a clumping and thresholding method, lasso penalized regression, an Empirical Bayes approach, a Bayesian polygenic prediction approach, or linear combinations of multiple PRSs. These PRSs were evaluated in 89,898 women from 3 prospective studies (1592 incident cases). The best performing PRS (genome-wide set of single-nucleotide variations [formerly single-nucleotide polymorphism]) had a hazard ratio per unit SD of 1.62 (95% CI = 1.46-1.80) and an area under the receiver operating curve of 0.635 (95% CI = 0.622-0.649). Combined Asian and European PRSs (333 single-nucleotide variations) had a hazard ratio per SD of 1.53 (95% CI = 1.37-1.71) and an area under the receiver operating curve of 0.621 (95% CI = 0.608-0.635). The distribution of the latter PRS was different across ethnic subgroups, confirming the importance of population-specific calibration for valid estimation of breast cancer risk. PRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry.
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影响因子：
2.1
作者：
Márquez-Luna C;Loh PR;South Asian Type 2 Diabetes (SAT2D) Consortium;SIGMA Type 2 Diabetes Consortium;Price AL
通讯作者：
Price AL
影响因子：
8.2
作者：
Gan W;Walters RG;Holmes MV;Bragg F;Millwood IY;Banasik K;Chen Y;Du H;Iona A;Mahajan A;Yang L;Bian Z;Guo Y;Clarke RJ;Li L;McCarthy MI;Chen Z;China Kadoorie Biobank Collaborative Group
通讯作者：
China Kadoorie Biobank Collaborative Group
影响因子：
64.8
作者：
Michailidou K;Lindström S;Dennis J;Beesley J;Hui S;Kar S;Lemaçon A;Soucy P;Glubb D;Rostamianfar A;Bolla MK;Wang Q;Tyrer J;Dicks E;Lee A;Wang Z;Allen J;Keeman R;Eilber U;French JD;Qing Chen X;Fachal L;McCue K;McCart Reed AE;Ghoussaini M;Carroll JS;Jiang X;Finucane H;Adams M;Adank MA;Ahsan H;Aittomäki K;Anton-Culver H;Antonenkova NN;Arndt V;Aronson KJ;Arun B;Auer PL;Bacot F;Barrdahl M;Baynes C;Beckmann MW;Behrens S;Benitez J;Bermisheva M;Bernstein L;Blomqvist C;Bogdanova NV;Bojesen SE;Bonanni B;Børresen-Dale AL;Brand JS;Brauch H;Brennan P;Brenner H;Brinton L;Broberg P;Brock IW;Broeks A;Brooks-Wilson A;Brucker SY;Brüning T;Burwinkel B;Butterbach K;Cai Q;Cai H;Caldés T;Canzian F;Carracedo A;Carter BD;Castelao JE;Chan TL;David Cheng TY;Seng Chia K;Choi JY;Christiansen H;Clarke CL;NBCS Collaborators;Collée M;Conroy DM;Cordina-Duverger E;Cornelissen S;Cox DG;Cox A;Cross SS;Cunningham JM;Czene K;Daly MB;Devilee P;Doheny KF;Dörk T;Dos-Santos-Silva I;Dumont M;Durcan L;Dwek M;Eccles DM;Ekici AB;Eliassen AH;Ellberg C;Elvira M;Engel C;Eriksson M;Fasching PA;Figueroa J;Flesch-Janys D;Fletcher O;Flyger H;Fritschi L;Gaborieau V;Gabrielson M;Gago-Dominguez M;Gao YT;Gapstur SM;García-Sáenz JA;Gaudet MM;Georgoulias V;Giles GG;Glendon G;Goldberg MS;Goldgar DE;González-Neira A;Grenaker Alnæs GI;Grip M;Gronwald J;Grundy A;Guénel P;Haeberle L;Hahnen E;Haiman CA;Håkansson N;Hamann U;Hamel N;Hankinson S;Harrington P;Hart SN;Hartikainen JM;Hartman M;Hein A;Heyworth J;Hicks B;Hillemanns P;Ho DN;Hollestelle A;Hooning MJ;Hoover RN;Hopper JL;Hou MF;Hsiung CN;Huang G;Humphreys K;Ishiguro J;Ito H;Iwasaki M;Iwata H;Jakubowska A;Janni W;John EM;Johnson N;Jones K;Jones M;Jukkola-Vuorinen A;Kaaks R;Kabisch M;Kaczmarek K;Kang D;Kasuga Y;Kerin MJ;Khan S;Khusnutdinova E;Kiiski JI;Kim SW;Knight JA;Kosma VM;Kristensen VN;Krüger U;Kwong A;Lambrechts D;Le Marchand L;Lee E;Lee MH;Lee JW;Neng Lee C;Lejbkowicz F;Li J;Lilyquist J;Lindblom A;Lissowska J;Lo WY;Loibl S;Long J;Lophatananon A;Lubinski J;Luccarini C;Lux MP;Ma ESK;MacInnis RJ;Maishman T;Makalic E;Malone KE;Kostovska IM;Mannermaa A;Manoukian S;Manson JE;Margolin S;Mariapun S;Martinez ME;Matsuo K;Mavroudis D;McKay J;McLean C;Meijers-Heijboer H;Meindl A;Menéndez P;Menon U;Meyer J;Miao H;Miller N;Taib NAM;Muir K;Mulligan AM;Mulot C;Neuhausen SL;Nevanlinna H;Neven P;Nielsen SF;Noh DY;Nordestgaard BG;Norman A;Olopade OI;Olson JE;Olsson H;Olswold C;Orr N;Pankratz VS;Park SK;Park-Simon TW;Lloyd R;Perez JIA;Peterlongo P;Peto J;Phillips KA;Pinchev M;Plaseska-Karanfilska D;Prentice R;Presneau N;Prokofyeva D;Pugh E;Pylkäs K;Rack B;Radice P;Rahman N;Rennert G;Rennert HS;Rhenius V;Romero A;Romm J;Ruddy KJ;Rüdiger T;Rudolph A;Ruebner M;Rutgers EJT;Saloustros E;Sandler DP;Sangrajrang S;Sawyer EJ;Schmidt DF;Schmutzler RK;Schneeweiss A;Schoemaker MJ;Schumacher F;Schürmann P;Scott RJ;Scott C;Seal S;Seynaeve C;Shah M;Sharma P;Shen CY;Sheng G;Sherman ME;Shrubsole MJ;Shu XO;Smeets A;Sohn C;Southey MC;Spinelli JJ;Stegmaier C;Stewart-Brown S;Stone J;Stram DO;Surowy H;Swerdlow A;Tamimi R;Taylor JA;Tengström M;Teo SH;Beth Terry M;Tessier DC;Thanasitthichai S;Thöne K;Tollenaar RAEM;Tomlinson I;Tong L;Torres D;Truong T;Tseng CC;Tsugane S;Ulmer HU;Ursin G;Untch M;Vachon C;van Asperen CJ;Van Den Berg D;van den Ouweland AMW;van der Kolk L;van der Luijt RB;Vincent D;Vollenweider J;Waisfisz Q;Wang-Gohrke S;Weinberg CR;Wendt C;Whittemore AS;Wildiers H;Willett W;Winqvist R;Wolk A;Wu AH;Xia L;Yamaji T;Yang XR;Har Yip C;Yoo KY;Yu JC;Zheng W;Zheng Y;Zhu B;Ziogas A;Ziv E;ABCTB Investigators;ConFab/AOCS Investigators;Lakhani SR;Antoniou AC;Droit A;Andrulis IL;Amos CI;Couch FJ;Pharoah PDP;Chang-Claude J;Hall P;Hunter DJ;Milne RL;García-Closas M;Schmidt MK;Chanock SJ;Dunning AM;Edwards SL;Bader GD;Chenevix-Trench G;Simard J;Kraft P;Easton DF
通讯作者：
Easton DF
影响因子：
12.3
作者：
Isgut M;Sun J;Quyyumi AA;Gibson G
通讯作者：
Gibson G
影响因子：
4
作者：
Jara-Lazaro, Ana Richelia;Thilagaratnam, Shyamala;Tan, Puay Hoon
通讯作者：
Tan, Puay Hoon