title: Common variations withinHACE1gene and neuroblastoma susceptibility in a Southern Chinese population.
abstract: Neuroblastoma is a common fatal pediatric cancer of the developing sympathetic nervous system, which accounts for ~10% of all pediatric cancer deaths. To investigate genetic risk factors related to neuroblastoma, many genome-wide association studies have been performed, and single nucleotide polymorphisms (SNPs) withinHACE1gene have been identified to associate with neuroblastoma risk. However, the association of theHACE1SNPs with neuroblastoma needs to be validated in Southern Chinese children. We genotyped five SNPs located in theHACE1gene (rs4336470 C>T, rs9404576 T>G, rs4079063 A>G, rs2499663 T>C, and rs2499667 A>G) in 256 Southern Chinese patients in comparison with 531 ethnically matched healthy controls. Single locus analysis showed no significant association between any ofHACE1SNPs and neuroblastoma risk in Southern Chinese children. However, when all the risk genotypes were combined, we found a borderline significant trend toward an increased neuroblastoma risk with 4-5 risk genotypes (adjusted odds ratio =1.36, 95% confidence interval =0.98-1.89,P=0.065). Moreover, stratified analysis found that carriers of 4-5 risk genotypes tended to develop neuroblastoma in the retroperitoneal region and have more aggressive tumors, progressing to advanced clinical stages III/IV, when compared with those of 0-3 risk genotypes. In conclusion,HACE1gene may have weak effect on neuroblastoma risk in Southern Chinese children. Large well-designed studies are needed to strengthen our findings.
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University; Southern Medical University, Guangzhou, Guangdong.
authors.forename: Zhuorong
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University.
authors.forename: Ruizhong
authors.initials: R
authors.lastname: Zhang
authors.affiliation: Molecular Epidemiology Laboratory and Department of Laboratory Medicine, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, People's Republic of China.
authors.forename: Jinhong
authors.initials: J
authors.lastname: Zhu
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University.
authors.forename: Fenghua
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University.
authors.forename: Tianyou
authors.initials: T
authors.lastname: Yang
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zou
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University.
authors.forename: Jing
authors.initials: J
authors.lastname: He
authors.affiliation: Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University; Southern Medical University, Guangzhou, Guangdong.
authors.forename: Huimin
authors.initials: H
authors.lastname: Xia
keywords: GWAS; HACE1; neuroblastoma; polymorphism; susceptibility