Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.
Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.
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DOI：
10.18632/oncotarget.19211
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发表时间：
2017-09-29
期刊：
影响因子：
--
通讯作者：
Kuo YY
中科院分区：
文献类型：
--
作者：
Chiang YH;Chang YC;Lin HC;Huang L;Cheng CC;Wang WT;Cheng HI;Su NW;Chen CG;Lin J;Chang YF;Chang MC;Hsieh RK;Chou WC;Lim KH;Kuo YY
已发现 JAK2、TERT、HBS1L-MYB 和 MECOM 的种系变异与欧洲人群中的骨髓增生性肿瘤 (MPN) 相关。这些种系变异是否与台湾人群的 MPN 相关尚不清楚。在这里，我们旨在评估台湾人群中五种种系变异（由 rs12343867、JAK2 内含子 8 rs12339666、TERT rs2736100、HBS1L-MYB rs9376092 和 MECOM rs2201862 标记的 JAK2 46/1 单倍型）与 MPN 风险的关联。共有 178 名 MPN 患者（109 名原发性血小板增多症患者、54 名真性红细胞增多症患者和 15 名原发性骨髓纤维化患者）纳入本研究。 17033名对照受试者的信息来自台湾生物银行数据库。 JAK2 46/1 单倍型、JAK2 rs12339666 和 TERT rs2736100 与台湾 MPN 显着相关（分别为 P = 3.6×10-19、1.9×10-19 和 3.1×10-6），以及 JAK2V617F 阳性 MPN（n=121）（P =分别为5.6×10-21、4.4×10-21和8.6×10-7）。在 JAK2V617F 阴性病例 (n=55) 中，仅 JAK2 46/1 单倍型和 JAK2 rs12339666 保持统计学显着性（P 分别为 0.009 和 0.007）。按疾病亚型分层时，JAK2 46/1 单倍型和 JAK2 rs12339666 与所有三种 MPN 亚型显着相关，但 TERT rs2736100 仅与原发性血小板增多症和真性红细胞增多症相关。在我们的队列中，我们没有发现这 5 个 SNP 与 CALR 突变有任何关联。此外，MECOM rs2201862 和 HBS1L-MYB rs9376092 的风险等位基因被证明与发生真性红细胞增多症的风险呈负相关。总之，JAK2（46/1 单倍型和 rs12339666）和 TERT rs2736100 的种系变异与台湾人群的 MPN 相关。
Germline variations at JAK2, TERT, HBS1L-MYB and MECOM have been found to associate with myeloproliferative neoplasms (MPNs) in European populations. Whether these germline variations are associated with MPNs in Taiwanese population is obscure. Here we aimed to evaluate the association of five germline variations (JAK2 46/1 haplotype tagged by rs12343867, JAK2 intron 8 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862) and the risk of MPNs in Taiwanese population. A total of 178 MPN patients (109 essential thrombocythemia, 54 polycythemia vera and 15 primary myelofibrosis) were enrolled into this study. The information of 17033 control subjects was obtained from Taiwan Biobank database. The JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with Taiwanese MPNs (P = 3.6×10-19, 1.9×10-19 and 3.1×10-6, respectively), and JAK2V617F-positive MPNs (n=121) (P = 5.6×10-21, 4.4×10-21 and 8.6×10-7, respectively). In JAK2V617F-negative cases (n=55), only the JAK2 46/1 haplotype and JAK2 rs12339666 remained statistically significant (P= 0.009 and 0.007, respectively). When stratified by disease subtypes, the JAK2 46/1 haplotype and JAK2 rs12339666 were significantly associated with all three MPN subtypes, but TERT rs2736100 was only associated with essential thrombocythemia and polycythemia vera. We did not find any association of these five SNPs with CALR mutations in our cohort. Furthermore, the risk alleles of MECOM rs2201862 and HBS1L-MYB rs9376092 were demonstrated to be negatively associated with the risk of developing polycythemia vera. In conclusion, germline variations at JAK2 (both the 46/1 haplotype and rs12339666) and TERT rs2736100 were associated with MPNs in Taiwanese population.
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影响因子：
12.8
作者：
Barbui T;Thiele J;Vannucchi AM;Tefferi A
通讯作者：
Tefferi A
骨髓增生性肿瘤中的体细胞CALR突变与未突破的JAK2。
DOI：
10.1056/nejmoa1312542
发表时间：
2013-12-19
期刊：
The New England journal of medicine
影响因子：
--
作者：
Nangalia J;Massie CE;Baxter EJ;Nice FL;Gundem G;Wedge DC;Avezov E;Li J;Kollmann K;Kent DG;Aziz A;Godfrey AL;Hinton J;Martincorena I;Van Loo P;Jones AV;Guglielmelli P;Tarpey P;Harding HP;Fitzpatrick JD;Goudie CT;Ortmann CA;Loughran SJ;Raine K;Jones DR;Butler AP;Teague JW;O'Meara S;McLaren S;Bianchi M;Silber Y;Dimitropoulou D;Bloxham D;Mudie L;Maddison M;Robinson B;Keohane C;Maclean C;Hill K;Orchard K;Tauro S;Du MQ;Greaves M;Bowen D;Huntly BJP;Harrison CN;Cross NCP;Ron D;Vannucchi AM;Papaemmanuil E;Campbell PJ;Green AR
通讯作者：
Green AR
影响因子：
--
作者：
Shen XH;Sun NN;Yin YF;Liu SF;Liu XL;Peng HL;Dai CW;Xu YX;Deng MY;Luo YY;Zheng WL;Zhang GS
通讯作者：
Zhang GS
影响因子：
2.9
作者：
Koh SP;Yip SP;Lee KK;Chan CC;Lau SM;Kho CS;Lau CK;Lin SY;Lau YM;Wong LG;Au KL;Wong KF;Chu RW;Yu PH;Chow EY;Leung KF;Tsoi WC;Yung BY
通讯作者：
Yung BY
影响因子：
20.3
作者：
Hinds, David A.;Barnholt, Kimberly E.;Gotlib, Jason
通讯作者：
Gotlib, Jason