MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium

Jennifer Permuth-Wey; Zhihua Chen; Ya-Yu Tsai; Hui-Yi Lin; Y Ann Chen; Jill Barnholtz-Sloan; Michael J Birrer; Stephen J Chanock; Daniel W Cramer; Julie M Cunningham; David Fenstermacher; Brooke L Fridley; Montserrat Garcia-Closas; Simon A Gayther; Aleksandra Gentry-Maharaj; Jesus Gonzalez-Bosquet; Edwin Iversen; Heather Jim; John McLaughlin; Usha Menon; Steven A Narod; Catherine M Phelan; Susan J Ramus; Harvey Risch; Honglin Song; Rebecca Sutphen; Kathryn L Terry; Jonathan Tyrer; Robert A Vierkant; Nicolas Wentzensen; Johnathan M Lancaster; Jin Q Cheng; Andrew Berchuck; Paul D P Pharoah; Joellen M Schildkraut; Ellen L Goode; Thomas A Sellers; Ovarian Cancer Association Consortium (OCAC)

doi:10.1158/1055-9965.EPI-11-0397

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MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium

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MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium

Jennifer Permuth-Wey, Zhihua Chen, Ya-Yu Tsai, Hui-Yi Lin, Y Ann Chen, Jill Barnholtz-Sloan, Michael J Birrer, Stephen J Chanock, Daniel W Cramer, Julie M Cunningham, …

Cancer epidemiology, biomarkers & prevention, Vol.20(8), pp.1793-1797

08/2011

DOI: 10.1158/1055-9965.EPI-11-0397

PMCID: PMC3153581

PMID: 21636674

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Abstract

Single nucleotide polymorphisms (SNP) in microRNA-related genes have been associated with epithelial ovarian cancer (EOC) risk in two reports, yet associated alleles may be inconsistent across studies. We conducted a pooled analysis of previously identified SNPs by combining genotype data from 3,973 invasive EOC cases and 3,276 controls from the Ovarian Cancer Association Consortium. We also conducted imputation to obtain dense coverage of genes and comparable genotype data for all studies. In total, 226 SNPs within 15 kb of 4 miRNA biogenesis genes (DDX20, DROSHA, GEMIN4, and XPO5) and 23 SNPs located within putative miRNA binding sites of 6 genes (CAV1, COL18A1, E2F2, IL1R1, KRAS, and UGT2A3) were genotyped or imputed and analyzed in the entire dataset. After adjustment for European ancestry, no overall association was observed between any of the analyzed SNPs and EOC risk. Common variants in these evaluated genes do not seem to be strongly associated with EOC risk. This analysis suggests earlier associations between EOC risk and SNPs in these genes may have been chance findings, possibly confounded by population admixture. To more adequately evaluate the relationship between genetic variants and cancer risk, large sample sizes are needed, adjustment for population stratification should be carried out, and use of imputed SNP data should be considered.

Ovarian Neoplasms - genetics

Neoplasms, Glandular and Epithelial - genetics

Genetic Predisposition to Disease

Humans

Risk Factors

Carcinoma, Ovarian Epithelial

Female

Genotype

MicroRNAs - genetics

Polymorphism, Single Nucleotide

Binding Sites

Details

Title: Subtitle: MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium
Creators: Jennifer Permuth-Wey - Department of Cancer Epidemiology, Moffitt Cancer Center, University of South Florida, Tampa, FL 33612, USA
Zhihua Chen
Ya-Yu Tsai
Hui-Yi Lin
Y Ann Chen
Jill Barnholtz-Sloan
Michael J Birrer
Stephen J Chanock
Daniel W Cramer
Julie M Cunningham
David Fenstermacher
Brooke L Fridley
Montserrat Garcia-Closas
Simon A Gayther
Aleksandra Gentry-Maharaj
Jesus Gonzalez-Bosquet
Edwin Iversen
Heather Jim
John McLaughlin
Usha Menon
Steven A Narod
Catherine M Phelan
Susan J Ramus
Harvey Risch
Honglin Song
Rebecca Sutphen
Kathryn L Terry
Jonathan Tyrer
Robert A Vierkant
Nicolas Wentzensen
Johnathan M Lancaster
Jin Q Cheng
Andrew Berchuck
Paul D P Pharoah
Joellen M Schildkraut
Ellen L Goode
Thomas A Sellers
Ovarian Cancer Association Consortium (OCAC)
Resource Type: Journal article
Publication Details: Cancer epidemiology, biomarkers & prevention, Vol.20(8), pp.1793-1797
DOI: 10.1158/1055-9965.EPI-11-0397
PMID: 21636674
PMCID: PMC3153581
NLM abbreviation: Cancer Epidemiol Biomarkers Prev
ISSN: 1055-9965
eISSN: 1538-7755
Publisher: United States
Grant note: Department of Health A10119 / Cancer Research UK G0801875 / Medical Research Council R01 CA114343-05 / NCI NIH HHS R01-CA-114343 / NCI NIH HHS P30-CA-15083 / NCI NIH HHS A10124 / Cancer Research UK R01 CA063678 / NCI NIH HHS P30 CA015083 / NCI NIH HHS R01 CA106414 / NCI NIH HHS R01 CA114343 / NCI NIH HHS Intramural NIH HHS R01 CA063682 / NCI NIH HHS 10124 / Cancer Research UK R01 CA106414-06 / NCI NIH HHS P50 CA105009 / NCI NIH HHS R01-CA114343-S1 / NCI NIH HHS P30 CA076292 / NCI NIH HHS CA-54419 / NCI NIH HHS R01 CA114343-03S1 / NCI NIH HHS R01 CA054419 / NCI NIH HHS R01 CA076016 / NCI NIH HHS R01-CA-106414 / NCI NIH HHS R01-CA-76016 / NCI NIH HHS R01-CA-63682 / NCI NIH HHS R01-CA-122443 / NCI NIH HHS R01-CA-63678 / NCI NIH HHS P50-CA-136393 / NCI NIH HHS Cancer Research UK P50 CA136393 / NCI NIH HHS R01 CA122443 / NCI NIH HHS
Language: English
Date published: 08/2011
Academic Unit: Obstetrics and Gynecology
Record Identifier: 9983931741102771

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