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Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases

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Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases. / Bermejo, Justo Lorenzo; Kabisch, Maria; Dünnebier, Thomas; Schnaidt, Sven; Melchior, Frauke; Fischer, Hans-Peter; Harth, Volker; Rabstein, Sylvia; Pesch, Beate; Brüning, Thomas; Justenhoven, Christina; Brauch, Hiltrud; Baisch, Christian; Ko, Yon-Dschun; Hamann, Ute.

in: INT J CANCER, Jahrgang 133, Nr. 2, 15.07.2013, S. 362-72.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Bermejo, JL, Kabisch, M, Dünnebier, T, Schnaidt, S, Melchior, F, Fischer, H-P, Harth, V, Rabstein, S, Pesch, B, Brüning, T, Justenhoven, C, Brauch, H, Baisch, C, Ko, Y-D & Hamann, U 2013, 'Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases', INT J CANCER, Jg. 133, Nr. 2, S. 362-72. https://doi.org/10.1002/ijc.28040

APA

Bermejo, J. L., Kabisch, M., Dünnebier, T., Schnaidt, S., Melchior, F., Fischer, H-P., Harth, V., Rabstein, S., Pesch, B., Brüning, T., Justenhoven, C., Brauch, H., Baisch, C., Ko, Y-D., & Hamann, U. (2013). Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases. INT J CANCER, 133(2), 362-72. https://doi.org/10.1002/ijc.28040

Vancouver

Bermejo JL, Kabisch M, Dünnebier T, Schnaidt S, Melchior F, Fischer H-P et al. Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases. INT J CANCER. 2013 Jul 15;133(2):362-72. https://doi.org/10.1002/ijc.28040

Bibtex

@article{a6612c89383d4d87a3daa9558effef9f,
title = "Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases",
abstract = "Small ubiquitin-like modifier (SUMO) proteins are covalently attached to target proteins to modify their function. SUMO conjugation participates in processes tightly linked to tumorigenesis. Recently USPL1 (ubiquitin-specific peptidase-like (1) was identified as a SUMO isopeptidase. We report here on the first exploratory study investigating the relationship between genetic variability in USPL1 and breast cancer. Three potentially functional nonsynonymous coding SNPs (rs3742303, rs17609459, rs7984952) were genotyped in 1,021 breast cancer cases and 1,015 controls from the population-based GENICA study. We took advantage of multiple genotype imputation based on HapMap and the 1000 Genomes Project data to refine the association screening in the investigated region. Public genetic databases were also used to investigate the relationship with USPL1 expression in lymphoblastoid cell lines and breast tissue. Women homozygous for the minor C allele of rs7984952 showed a lower risk of Grade 3 breast tumors compared to TT homozygotes (OR 0.50, 95% CI 0.30-0.81). Case-only analyses confirmed the association between rs7984952 and tumor grade (OR 0.60, 95% CI 0.39-0.93). Imputation results in a 238 kb region around rs7984952 based on HapMap and the 1000 Genomes Project data were similar. No imputed variant showed an association signal stronger than rs7984952. USPL1 expression in tumor breast tissue increased with the number of C alleles. The present study illustrates the contribution of multiple imputation of genotypes using public data repositories to standard genotyping laboratory. The provided information may facilitate the design of independent studies to validate the association between USPL1 rs7984952 and risk of Grade 3 breast tumors.",
keywords = "Alleles, Body Mass Index, Breast Neoplasms, Case-Control Studies, Cell Line, Tumor, Databases, Genetic, Endopeptidases, Female, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Homozygote, Humans, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Regression Analysis, Sequence Analysis, DNA, Small Ubiquitin-Related Modifier Proteins, Time Factors, Ubiquitin-Specific Proteases",
author = "Bermejo, {Justo Lorenzo} and Maria Kabisch and Thomas D{\"u}nnebier and Sven Schnaidt and Frauke Melchior and Hans-Peter Fischer and Volker Harth and Sylvia Rabstein and Beate Pesch and Thomas Br{\"u}ning and Christina Justenhoven and Hiltrud Brauch and Christian Baisch and Yon-Dschun Ko and Ute Hamann",
note = "Copyright {\textcopyright} 2013 UICC.",
year = "2013",
month = jul,
day = "15",
doi = "10.1002/ijc.28040",
language = "English",
volume = "133",
pages = "362--72",
journal = "INT J CANCER",
issn = "0020-7136",
publisher = "Wiley-Liss Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases

AU - Bermejo, Justo Lorenzo

AU - Kabisch, Maria

AU - Dünnebier, Thomas

AU - Schnaidt, Sven

AU - Melchior, Frauke

AU - Fischer, Hans-Peter

AU - Harth, Volker

AU - Rabstein, Sylvia

AU - Pesch, Beate

AU - Brüning, Thomas

AU - Justenhoven, Christina

AU - Brauch, Hiltrud

AU - Baisch, Christian

AU - Ko, Yon-Dschun

AU - Hamann, Ute

N1 - Copyright © 2013 UICC.

PY - 2013/7/15

Y1 - 2013/7/15

N2 - Small ubiquitin-like modifier (SUMO) proteins are covalently attached to target proteins to modify their function. SUMO conjugation participates in processes tightly linked to tumorigenesis. Recently USPL1 (ubiquitin-specific peptidase-like (1) was identified as a SUMO isopeptidase. We report here on the first exploratory study investigating the relationship between genetic variability in USPL1 and breast cancer. Three potentially functional nonsynonymous coding SNPs (rs3742303, rs17609459, rs7984952) were genotyped in 1,021 breast cancer cases and 1,015 controls from the population-based GENICA study. We took advantage of multiple genotype imputation based on HapMap and the 1000 Genomes Project data to refine the association screening in the investigated region. Public genetic databases were also used to investigate the relationship with USPL1 expression in lymphoblastoid cell lines and breast tissue. Women homozygous for the minor C allele of rs7984952 showed a lower risk of Grade 3 breast tumors compared to TT homozygotes (OR 0.50, 95% CI 0.30-0.81). Case-only analyses confirmed the association between rs7984952 and tumor grade (OR 0.60, 95% CI 0.39-0.93). Imputation results in a 238 kb region around rs7984952 based on HapMap and the 1000 Genomes Project data were similar. No imputed variant showed an association signal stronger than rs7984952. USPL1 expression in tumor breast tissue increased with the number of C alleles. The present study illustrates the contribution of multiple imputation of genotypes using public data repositories to standard genotyping laboratory. The provided information may facilitate the design of independent studies to validate the association between USPL1 rs7984952 and risk of Grade 3 breast tumors.

AB - Small ubiquitin-like modifier (SUMO) proteins are covalently attached to target proteins to modify their function. SUMO conjugation participates in processes tightly linked to tumorigenesis. Recently USPL1 (ubiquitin-specific peptidase-like (1) was identified as a SUMO isopeptidase. We report here on the first exploratory study investigating the relationship between genetic variability in USPL1 and breast cancer. Three potentially functional nonsynonymous coding SNPs (rs3742303, rs17609459, rs7984952) were genotyped in 1,021 breast cancer cases and 1,015 controls from the population-based GENICA study. We took advantage of multiple genotype imputation based on HapMap and the 1000 Genomes Project data to refine the association screening in the investigated region. Public genetic databases were also used to investigate the relationship with USPL1 expression in lymphoblastoid cell lines and breast tissue. Women homozygous for the minor C allele of rs7984952 showed a lower risk of Grade 3 breast tumors compared to TT homozygotes (OR 0.50, 95% CI 0.30-0.81). Case-only analyses confirmed the association between rs7984952 and tumor grade (OR 0.60, 95% CI 0.39-0.93). Imputation results in a 238 kb region around rs7984952 based on HapMap and the 1000 Genomes Project data were similar. No imputed variant showed an association signal stronger than rs7984952. USPL1 expression in tumor breast tissue increased with the number of C alleles. The present study illustrates the contribution of multiple imputation of genotypes using public data repositories to standard genotyping laboratory. The provided information may facilitate the design of independent studies to validate the association between USPL1 rs7984952 and risk of Grade 3 breast tumors.

KW - Alleles

KW - Body Mass Index

KW - Breast Neoplasms

KW - Case-Control Studies

KW - Cell Line, Tumor

KW - Databases, Genetic

KW - Endopeptidases

KW - Female

KW - Gene Expression Regulation, Neoplastic

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Homozygote

KW - Humans

KW - Polymorphism, Single Nucleotide

KW - Quantitative Trait Loci

KW - Regression Analysis

KW - Sequence Analysis, DNA

KW - Small Ubiquitin-Related Modifier Proteins

KW - Time Factors

KW - Ubiquitin-Specific Proteases

U2 - 10.1002/ijc.28040

DO - 10.1002/ijc.28040

M3 - SCORING: Journal article

C2 - 23338788

VL - 133

SP - 362

EP - 372

JO - INT J CANCER

JF - INT J CANCER

SN - 0020-7136

IS - 2

ER -