| Geno
|
Mag
|
Summary
|
| (C;C)
|
3
|
2 - 4 fold increased odds of developing V617F-associated MPNs
|
| (C;T)
|
2.5
|
Increased odds (2 fold?) of developing V617F-associated MPNs
|
| (T;T)
|
0
|
common/normal
|
[PMID 22251709
] The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
23andMe blog
At rs12340895(G) (equivalent to rs12343867 in the study) had nearly four times higher odds of developing V617F-positive MPN compared to people without the variant. 23andMe recently replicated this association, though we see a smaller effect — in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. An A at rs3780374 in the JAK2 gene (equivalent to rs4495487 reported in the study and highly correlated with rs12343867) have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version.
The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well.
[PMID 26557140] Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China
] The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
