Additionally, the patients group had a higher proportion of the poverty (P < 0.01) and manual workers (P < 0.01). However, the alcohol consumption and oral contraceptives use were similar between the two groups. Wnt mutation JAK2V617F mutation was detected in 2.37% (7/295) of these patients. The differences between patients with and without the JAK2V617F mutation were described in Table 2. Compared with those without the JAK2V617F mutation, the patients with the mutation had higher levels of direct bilirubin (P = 0.03), prothrombin time (P = 0.01), and international normalized ratio (P = 0.01). The clinical symptoms and signs were similar between two groups. The SNP rs12343867 genotype distributions

of the study population and the OR for BCS were presented in Table 3. DNA samples for this study were available for 295 BCS patients and 332 healthy controls. Of these, 274 BCS patients (93%) and 310 controls (93%) were successfully genotyped. The number of BCS patients with CC, CT, and TT genotypes were 16, 83, and 175, respectively, while the controls were 10, 99, and 201. Genotype distribution of our study population was in Hardy–Weinberg equilibrium. In the overall group of BCS, there was no significant difference in frequency of JAK2 46/1 haplotype (that is the rs12343867 C-allele frequency) Selleck BGJ398 compared with the controls (21% vs 19%; P = 0.56). However, when stratified for

the presence of the JAK2V617F selleck screening library mutation, 46/1 haplotype was presented more frequently in the patients of JAK2V617F-positive mutation than in controls (42% vs 19%, P < 0.01). Meanwhile, the risk for the JAK2V617F-positive BCS in subjects with the CC genotype was elevated compared

with subjects with the common TT genotype (OR = 13.4, 95% CI = 2.01–81.5). When combined TT with CT, we could also find a significantly increased risk of JAK2V617F-positive BCS associated with CC (OR = 15.0, 95%CI = 2.45–91.7). No difference in JAK2 46/1 haplotype frequency was observed in the JAK2V617F-negative individuals with BCS compared with controls (21% vs 19%; P = 0.72). We examined the association between JAK2 46/1 and demographic/clinical features of the BCS patients (Table 4). The results showed that no difference was observed. The results of gene mutation screening were shown in Table 5. In the gene of JAK2 exon12, both K539L and H538QK539L were found five in 295 patients, no other mutations were found. Neither MPLW515L/K mutation nor FVL mutation was found in any of 295 patients tested as well as prothrombin G20210A mutation. The present study is the first to evaluate the prevalence of the JAK2V617F mutation and 46/1 haplotype in such a relatively large cohort of BCS patients in China. Previous studies reported JAK2V617F mutation was detected in a larger number of sporadic BCS patients,[22-24] and the prevalence of mutation was different. In 2006, Patel et al.[8] and Primignani M et al.