机构：[1]Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China临床科室科研平台职能科室耳鼻咽喉头颈外科临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[2]Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China临床科室职能科室耳鼻咽喉头颈外科临床流行病与循证医学中心首都医科大学附属北京儿童医院[3]Biobank for Clinical Data and Samples in Pediatric, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China科研平台职能科室临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[4]Department of Oncological Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China临床科室职能科室临床流行病与循证医学中心肿瘤外科首都医科大学附属北京儿童医院
Neuroblastoma (NB) is a sympathetic nervous system cancer for children, occupying approximately 15% of pediatric oncology deaths. BARD1, a tumor suppressor, is essential for genome stability by interaction with BRCA1. Here, we performed a systematic investigation for the association between SNPs in BARD1 and the risk of NB in Chinese population. After SNP screening in BARD1 gene, we performed case-control study of eleven selected SNPs in BARD1 with 339 NB patients and 778 cancer-free controls. The OR and 95% CI of these candidate SNPs were computed by logistic regression. After adjusted gender and age, seven out of eleven SNPs in BARD1 were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). When stratified by the INPC, primary tumor site and the INSS, these seven SNPs were significant associated with GNB/NB, stage III/IV and adrenal origin of NB. Dual-luciferase reporter assay showed rs17489363 A allele-containing haplotypes (TAC, CAC, TAG and CAG), composed with rs34732883 T > C, and rs1129804 C > G, dramatically reduced the transcriptional activity of reporter gene. The major of our study showed that seven SNPs of BARD1 associated with increased NB risk in Chinese population, and four haplotypes could reduce transcription activity of BARD1.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [31401067, 81472369, 81502144]; Beijing Health System Top Level Technical Personnel Training Plan [20153079]
第一作者机构：[1]Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China[2]Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
通讯作者：
通讯机构：[1]Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China[2]Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China[3]Biobank for Clinical Data and Samples in Pediatric, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China[*1]Department of Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China[*2]Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China.
推荐引用方式(GB/T 7714)：
Shi Jin,Yu Yongbo,Jin Yaqiong,et al.Functional Polymorphisms in BARD1 Association with Neuroblastoma in a regional Han Chinese Population[J].JOURNAL OF CANCER.2019,10(10):2153-2160.doi:10.7150/jca.26719.
APA：
Shi, Jin,Yu, Yongbo,Jin, Yaqiong,Lu, Jie,Zhang, Jie...&Ni, Xin.(2019).Functional Polymorphisms in BARD1 Association with Neuroblastoma in a regional Han Chinese Population.JOURNAL OF CANCER,10,(10)
MLA：
Shi, Jin,et al."Functional Polymorphisms in BARD1 Association with Neuroblastoma in a regional Han Chinese Population".JOURNAL OF CANCER 10..10(2019):2153-2160
