Germline variations at , , and and the risk of myeloproliferative neoplasms in Taiwanese population.

Germline variations at , , - and 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 ( 46/1 haplotype tagged by rs12343867, intron 8 rs12339666, rs2736100, - rs9376092 and 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 46/1 haplotype, rs12339666 and rs2736100 were significantly associated with Taiwanese MPNs ( = 3.6×10, 1.9×10 and 3.1×10, respectively), and -positive MPNs (n=121) ( = 5.6×10, 4.4×10 and 8.6×10, respectively). In -negative cases (n=55), only the 46/1 haplotype and rs12339666 remained statistically significant (= 0.009 and 0.007, respectively). When stratified by disease subtypes, the 46/1 haplotype and rs12339666 were significantly associated with all three MPN subtypes, but rs2736100 was only associated with essential thrombocythemia and polycythemia vera. We did not find any association of these five SNPs with mutations in our cohort. Furthermore, the risk alleles of rs2201862 and - rs9376092 were demonstrated to be negatively associated with the risk of developing polycythemia vera. In conclusion, germline variations at (both the 46/1 haplotype and rs12339666) and rs2736100 were associated with MPNs in Taiwanese population.