GERMLINE VARIATIONS AT JAK2 AND TERT ARE ASSOCIATED WITH MYELOPROLIFERATIVE NEOPLASMS IN TAIWANESE POPULATION
(Abstract release date: 05/19/16)
EHA Library. Chiang Y. 06/09/16; 132901; E1352
Dr. Yi-Hao Chiang
Contributions
Contributions
Abstract
Abstract: E1352
Type: Eposter Presentation
Background
In addition to the JAK2 46/1 haplotype, a recent study reported that germline variations at JAK2 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862 are associated with myeloproliferative neoplasms (MPNs) in European populations.
Aims
In this study, we sought to evaluate the association of these five germline variations (JAK2 46/1 haplotype is tagged by rs12343867) with MPNs in Taiwanese population.
Methods
A total of 178 MPN patients (111 ET, 53 PV and 14 PMF) seen at Mackay Memorial Hospital were enrolled into this study. Genetic testing in MPN patients has been approved by the institutional review board. All patients were screened for JAK2V617F, CALR and MPL mutations. All the above 5 germline variations were genotyped by high-resolution melting analysis and/or Sanger sequencing. Data of healthy controls were obtained from 118 local controls, published papers, and Taiwan Biobank database (https://taiwanview.twbiobank.org.tw). Chi-square or Fisher’s exact test were used to analyze difference between patients and healthy controls, and to calculate odds ratios and 95% confidence intervals. Population attributable risks (PAR) were calculated as previously described. The SPSS software (version 22.0) was used for statistical analysis, and a two-side p value < 0.05 was defined as significant.
Results
The JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with MPN cases (p value, 7.5x10-8, 3.2x10-8 and 3.0x10-6, respectively), and JAK2V617F-positive cases (n=121) (p=7.0x10-10, 2.7x10-9 and 5.9x10-7, respectively). For the whole cohort, the PAR for JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were 43.6, 42.1 and 28.5, respectively. In JAK2V617F-negative cases (n=55), only the JAK2 46/1 haplotype remained statistically significant (p=0.044).When stratified by disease subtypes, the JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with both polycythemia vera (p=7.9x10-10, 6.8x10-10 and 6.1x10-4, respectively) and essential thrombocythemia (p=1.5x10-4, 1.8x10-3 and 4.9x10-4, respectively). The JAK2 46/1 haplotype, JAK2 rs12339666 and MECOM rs2201862 were significantly associated with primary myelofibrosis (p=0.021, 0.01 and 0.007, respectively).
Conclusion
In this cohort, germline variations at JAK2 (both the 46/1 haplotype and rs12339666) and TERT rs2736100 were significantly associated with MPNs in Taiwanese population.
Session topic: E-poster
Type: Eposter Presentation
Background
In addition to the JAK2 46/1 haplotype, a recent study reported that germline variations at JAK2 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862 are associated with myeloproliferative neoplasms (MPNs) in European populations.
Aims
In this study, we sought to evaluate the association of these five germline variations (JAK2 46/1 haplotype is tagged by rs12343867) with MPNs in Taiwanese population.
Methods
A total of 178 MPN patients (111 ET, 53 PV and 14 PMF) seen at Mackay Memorial Hospital were enrolled into this study. Genetic testing in MPN patients has been approved by the institutional review board. All patients were screened for JAK2V617F, CALR and MPL mutations. All the above 5 germline variations were genotyped by high-resolution melting analysis and/or Sanger sequencing. Data of healthy controls were obtained from 118 local controls, published papers, and Taiwan Biobank database (https://taiwanview.twbiobank.org.tw). Chi-square or Fisher’s exact test were used to analyze difference between patients and healthy controls, and to calculate odds ratios and 95% confidence intervals. Population attributable risks (PAR) were calculated as previously described. The SPSS software (version 22.0) was used for statistical analysis, and a two-side p value < 0.05 was defined as significant.
Results
The JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with MPN cases (p value, 7.5x10-8, 3.2x10-8 and 3.0x10-6, respectively), and JAK2V617F-positive cases (n=121) (p=7.0x10-10, 2.7x10-9 and 5.9x10-7, respectively). For the whole cohort, the PAR for JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were 43.6, 42.1 and 28.5, respectively. In JAK2V617F-negative cases (n=55), only the JAK2 46/1 haplotype remained statistically significant (p=0.044).When stratified by disease subtypes, the JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with both polycythemia vera (p=7.9x10-10, 6.8x10-10 and 6.1x10-4, respectively) and essential thrombocythemia (p=1.5x10-4, 1.8x10-3 and 4.9x10-4, respectively). The JAK2 46/1 haplotype, JAK2 rs12339666 and MECOM rs2201862 were significantly associated with primary myelofibrosis (p=0.021, 0.01 and 0.007, respectively).
Conclusion
In this cohort, germline variations at JAK2 (both the 46/1 haplotype and rs12339666) and TERT rs2736100 were significantly associated with MPNs in Taiwanese population.
Session topic: E-poster
Abstract: E1352
Type: Eposter Presentation
Background
In addition to the JAK2 46/1 haplotype, a recent study reported that germline variations at JAK2 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862 are associated with myeloproliferative neoplasms (MPNs) in European populations.
Aims
In this study, we sought to evaluate the association of these five germline variations (JAK2 46/1 haplotype is tagged by rs12343867) with MPNs in Taiwanese population.
Methods
A total of 178 MPN patients (111 ET, 53 PV and 14 PMF) seen at Mackay Memorial Hospital were enrolled into this study. Genetic testing in MPN patients has been approved by the institutional review board. All patients were screened for JAK2V617F, CALR and MPL mutations. All the above 5 germline variations were genotyped by high-resolution melting analysis and/or Sanger sequencing. Data of healthy controls were obtained from 118 local controls, published papers, and Taiwan Biobank database (https://taiwanview.twbiobank.org.tw). Chi-square or Fisher’s exact test were used to analyze difference between patients and healthy controls, and to calculate odds ratios and 95% confidence intervals. Population attributable risks (PAR) were calculated as previously described. The SPSS software (version 22.0) was used for statistical analysis, and a two-side p value < 0.05 was defined as significant.
Results
The JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with MPN cases (p value, 7.5x10-8, 3.2x10-8 and 3.0x10-6, respectively), and JAK2V617F-positive cases (n=121) (p=7.0x10-10, 2.7x10-9 and 5.9x10-7, respectively). For the whole cohort, the PAR for JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were 43.6, 42.1 and 28.5, respectively. In JAK2V617F-negative cases (n=55), only the JAK2 46/1 haplotype remained statistically significant (p=0.044).When stratified by disease subtypes, the JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with both polycythemia vera (p=7.9x10-10, 6.8x10-10 and 6.1x10-4, respectively) and essential thrombocythemia (p=1.5x10-4, 1.8x10-3 and 4.9x10-4, respectively). The JAK2 46/1 haplotype, JAK2 rs12339666 and MECOM rs2201862 were significantly associated with primary myelofibrosis (p=0.021, 0.01 and 0.007, respectively).
Conclusion
In this cohort, germline variations at JAK2 (both the 46/1 haplotype and rs12339666) and TERT rs2736100 were significantly associated with MPNs in Taiwanese population.
Session topic: E-poster
Type: Eposter Presentation
Background
In addition to the JAK2 46/1 haplotype, a recent study reported that germline variations at JAK2 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862 are associated with myeloproliferative neoplasms (MPNs) in European populations.
Aims
In this study, we sought to evaluate the association of these five germline variations (JAK2 46/1 haplotype is tagged by rs12343867) with MPNs in Taiwanese population.
Methods
A total of 178 MPN patients (111 ET, 53 PV and 14 PMF) seen at Mackay Memorial Hospital were enrolled into this study. Genetic testing in MPN patients has been approved by the institutional review board. All patients were screened for JAK2V617F, CALR and MPL mutations. All the above 5 germline variations were genotyped by high-resolution melting analysis and/or Sanger sequencing. Data of healthy controls were obtained from 118 local controls, published papers, and Taiwan Biobank database (https://taiwanview.twbiobank.org.tw). Chi-square or Fisher’s exact test were used to analyze difference between patients and healthy controls, and to calculate odds ratios and 95% confidence intervals. Population attributable risks (PAR) were calculated as previously described. The SPSS software (version 22.0) was used for statistical analysis, and a two-side p value < 0.05 was defined as significant.
Results
The JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with MPN cases (p value, 7.5x10-8, 3.2x10-8 and 3.0x10-6, respectively), and JAK2V617F-positive cases (n=121) (p=7.0x10-10, 2.7x10-9 and 5.9x10-7, respectively). For the whole cohort, the PAR for JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were 43.6, 42.1 and 28.5, respectively. In JAK2V617F-negative cases (n=55), only the JAK2 46/1 haplotype remained statistically significant (p=0.044).When stratified by disease subtypes, the JAK2 46/1 haplotype, JAK2 rs12339666 and TERT rs2736100 were significantly associated with both polycythemia vera (p=7.9x10-10, 6.8x10-10 and 6.1x10-4, respectively) and essential thrombocythemia (p=1.5x10-4, 1.8x10-3 and 4.9x10-4, respectively). The JAK2 46/1 haplotype, JAK2 rs12339666 and MECOM rs2201862 were significantly associated with primary myelofibrosis (p=0.021, 0.01 and 0.007, respectively).
Conclusion
In this cohort, germline variations at JAK2 (both the 46/1 haplotype and rs12339666) and TERT rs2736100 were significantly associated with MPNs in Taiwanese population.
Session topic: E-poster
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