Risk-Reducing Genetic Variant of Wilms Tumor 1 Gene rs16754 in Korean Patients With BCR-ABL1-Negative Myeloproliferative Neoplasm.
10.3343/alm.2015.35.3.348
- Author:
Namhee KIM
1
;
In Suk KIM
;
Chulhun L CHANG
;
Jeong Eun KANG
;
Eun Yup LEE
;
Ho Jin SHIN
Author Information
1. Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea. iskim0710@gmail.com
- Publication Type:Brief Communication ; Research Support, Non-U.S. Gov't
- Keywords:
Myeloproliferative neoplasm;
WT1;
rs16754
- MeSH:
Adult;
Aged;
Aged, 80 and over;
Alleles;
Asian Continental Ancestry Group/*genetics;
Case-Control Studies;
Exons;
Female;
Fusion Proteins, bcr-abl/genetics;
Gene Frequency;
Genotype;
Humans;
Leukemia, Myeloid, Acute/pathology;
Male;
Middle Aged;
Myeloproliferative Disorders/*genetics/pathology;
Polymorphism, Single Nucleotide;
Prognosis;
Proportional Hazards Models;
Republic of Korea;
Risk;
Sequence Analysis, DNA;
WT1 Proteins/*genetics;
Young Adult
- From:Annals of Laboratory Medicine
2015;35(3):348-351
- CountryRepublic of Korea
- Language:English
-
Abstract:
The genetic variant rs16754 of Wilms tumor gene 1 (WT1) has recently been described as an independent prognostic factor in AML patients. It is of great interest to test whether WT1 single nucleotide polymorphism can be used as a molecular marker in other types of cancer, to improve risk and treatment stratification. We performed sequencing analysis of exons 7 and 9 of WT1, which are known mutational hotspots, in a total of 73 patients with BCR-ABL1-negative myeloproliferative neoplasm (MPN) and 93 healthy controls. No previously reported WT1 mutations were identified in the present study. In Korean patients with BCR-ABL1-negative MPN, WT1 genetic variant rs16754 had no significant impact on clinical outcomes. We observed a significant difference in the allelic frequencies of WT1 rs16754 in Koreans between BCR-ABL1-negative MPN cases and healthy controls. Individuals carrying variant G alleles of WT1 rs16754 showed a relatively low prevalence of BCR-ABL1-negative MPN, compared with those carrying wild A alleles of WT1 rs16754 (Hazard ratio 0.10-0.65, P<0.05). Therefore, possession of the variant G allele of WT1 rs16754 may reduce the risk of developing BCR-ABL1-negative MPN.
