title: Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.
abstract: Myeloproliferative neoplasms (MPNs) are the leading cause of Budd-Chiari syndrome (BCS), and the C allele of JAK2 rs4495487 was reported to be an additional candidate locus that contributed to MPNs. In the present study, we examined the role of JAK2 rs4495487 in the etiology and clinical presentation of Chinese BCS patients. 300 primary BCS patients and 311 healthy controls were enrolled to evaluate the association between JAK2 rs4495487 polymorphism and risk of BCS. All subjects were detected for JAK2 rs4495487 by real-time PCR. Results. The JAK2 rs4495487 polymorphism was associated with JAK2 V617F-positive BCS patients compared with controls (P < 0.01). The CC genotype increased the risk of BCS in patients with JAK2 V617F mutation compared with individuals presenting TT genotype (OR = 13.60, 95% CI = 2.04-90.79) and non-CC genotype (OR = 12.00, 95% CI = 2.07-69.52). We also observed a significantly elevated risk of combined-type BCS associated with CC genotype in the recessive model (OR = 4.44, 95% CI = 1.31-15.12). This study provides statistical evidence that the JAK2 rs4495487 polymorphism is susceptibility factor JAK2 V617F positive BCS and combined BCS in China. Further larger studies are required to confirm these findings.
authors.affiliation: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: Peijin
authors.initials: P
authors.lastname: Zhang
authors.affiliation: Department of General Practice, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: Yanyan
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Community Health Care, Huai'an Maternal and Child Health Hospital, Huai'an, Jiangsu 223002, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: He
authors.initials: H
authors.lastname: Ma
authors.affiliation: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: Xiuyin
authors.initials: X
authors.lastname: Gao
authors.affiliation: Department of Interventional Radiology, Affiliated Hospital of Xuzhou Medical College, Xuzhou, Jiangsu 221002, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Xu
authors.affiliation: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu 221004, China.
authors.forename: Zhaojun
authors.initials: Z
authors.lastname: Lu