Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

被引：246

作者：

Capasso, Mario ^{[1
,2
,3
]}

Devoto, Marcella ^{[1
,2
,4
,5
]}

Hou, Cuiping ^{[6
]}

Asgharzadeh, Shahab ^{[7
,8
]}

Glessner, Joseph T. ^{[6
]}

Attiyeh, Edward F. ^{[1
,9
,10
]}

Mosse, Yael P. ^{[1
,9
,10
]}

Kim, Cecilia ^{[6
]}

Diskin, Sharon J. ^{[1
,9
,10
]}

Cole, Kristina A. ^{[1
,9
,10
]}

Bosse, Kristopher ^{[1
,9
,10
]}

Diamond, Maura ^{[1
,9
,10
]}

Laudenslager, Marci ^{[1
,9
,10
]}

Winter, Cynthia ^{[1
,9
,10
]}

Bradfield, Jonathan P. ^{[6
]}

Scott, Richard H. ^{[11
]}

Jagannathan, Jayanti ^{[9
,10
]}

Garris, Maria ^{[6
]}

McConville, Carmel ^{[12
]}

London, Wendy B. ^{[13
,14
]}

Seeger, Robert C. ^{[7
,8
]}

Grant, Struan F. A. ^{[1
,2
,6
]}

Li, Hongzhe ^{[4
]}

Rahman, Nazneen ^{[11
]}

Rappaport, Eric ^{[1
,9
,10
]}

Hakonarson, Hakon ^{[1
,2
,6
]}

Maris, John M. ^{[1
,9
,10
,15
]}

机构：

[1] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

[3] Univ Naples Federico 2, CEINGE Biotecnol Avanzate, Naples, Italy

[4] Univ Penn, Sch Med, Dept Biostat & Epidemiol, Ctr Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA

[5] Univ Roma La Sapienza, Dept Expt Med, I-00185 Rome, Italy

[6] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

[7] Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles, Div Hematol Oncol, Los Angeles, CA 90033 USA

[8] Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles, Saban Res Inst, Los Angeles, CA 90033 USA

[9] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA

[10] Childrens Hosp Philadelphia, Ctr Childhood Canc Res, Philadelphia, PA 19104 USA

[11] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

[12] Univ Birmingham, Sch Canc Sci, Birmingham B15 2TT, W Midlands, England

[13] Univ Florida, Ctr Data, Gainesville, FL USA

[14] Univ Florida, Childrens Oncol Grp Stat, Gainesville, FL USA

[15] Univ Penn, Sch Med, Abramson Family Canc Res Inst, Philadelphia, PA 19104 USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 06期

关键词：

GENOME-WIDE ASSOCIATION; BREAST-CANCER SUSCEPTIBILITY; PREDISPOSITION; IDENTIFICATION; CHEMOTHERAPY; CYS557SER; BRCA1; GENE;

D O I：

10.1038/ng.374

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We conducted a SNP-based genome-wide association study (GWAS) focused on the high-risk subset of neuroblastoma(1). As our previous unbiased GWAS showed strong association of common 6p22 SNP alleles with aggressive neuroblastoma(2), we restricted our analysis here to 397 high-risk cases compared to 2,043 controls. We detected new significant association of six SNPs at 2q35 within the BARD1 locus (P-allelic = 2.35 x 10(-9)-2.25 x 10(-8)). We confirmed each SNP association in a second series of 189 high-risk cases and 1,178 controls (P-allelic = 7.90 x 10(-7)-2.77 x 10(-4)). We also tested the two most significant SNPs (rs6435862, rs3768716) in two additional independent high-risk neuroblastoma case series, yielding combined allelic odds ratios of 1.68 each (P = 8.65 x 10(-18)and 2.74 x 10(-16), respectively). We also found significant association with known BARD1 nonsynonymous SNPs. These data show that common variation in BARD1 contributes to the etiology of the aggressive and most clinically relevant subset of human neuroblastoma.

引用

页码：718 / 723

页数：6

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