The association between JAK2 46/1 haplotype and the susceptibility of PV and ET in Chinese Han population / 中华检验医学杂志

ABSTRACT

Objective To investigate the frequency of JAK2 46/1 haplotype,tagged by the C-allele of SNP rs 12343867(C/T) in Chinese Han patients with PV and ET,and study the relationship between the JAK2 V617F mutation.Methods The whole blood was collected from 125 PV patients,87 ET patients and 213 healthy people.The JAK2 46/1-linked tagged SNP was screened and genotyped with high-resolution DNA melting analysis.20 random selection copies was certificated by DNA sequencing.The frequencies of genotypes and alleles at tSNP was compared between the case and healthy groups by the chi-square test.Results The C-allele frequency of 125 PV patients was 62.8% and T-allele was 37.2%.Also C-allele frequency of 87 ET patients was 45.4% and T-allele was 54.6%.The random selection copies was verified by DNA sequencing.The results showed that the distribution of JAK2 46/1 tSNP genotypes were significantly different(x2 =78.69,P＜0.01).CC and CT had a higher risk for MPNs compared to TT homozygotes(CC vs TT OR = 18.56,95 % CI = 8.70-39.58; CT vs TT OR = 3.60,95 % CI = 2.28-5.69,all of P＜ 0.01).SNP rs 12343867 was genotyped in 212 patients with concomitant analysis of V617F allele burden.Cenotype distributions did not show significant difference compared with JAK2V617F in PV patients(x2 = 2.47,P =0.12).But in ET patients,compared with V617F-negative,the frequency of C-allele showed difference (x2 =7.75,P＜0.01).Conclusions The incidence of the JAK2 46/1-linked C allele is significantly increased the disease risk of PV and ET.Results indicate that JAK2 46/1 haplotype is associated with an increased risk of acquiring a specific somatic mutation.