Evaluating Genome-Wide Association Study-Identified Breast Cancer Risk Variants in African-American Women
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{"title"=>"Evaluating Genome-Wide Association Study-Identified Breast Cancer Risk Variants in African-American Women", "type"=>"journal", "authors"=>[{"first_name"=>"Jirong", "last_name"=>"Long", "scopus_author_id"=>"7403446542"}, {"first_name"=>"Ben", "last_name"=>"Zhang", "scopus_author_id"=>"57200158563"}, {"first_name"=>"Lisa B.", "last_name"=>"Signorello", "scopus_author_id"=>"7003404172"}, {"first_name"=>"Qiuyin", "last_name"=>"Cai", "scopus_author_id"=>"7201853606"}, {"first_name"=>"Sandra", "last_name"=>"Deming-Halverson", "scopus_author_id"=>"55372690900"}, {"first_name"=>"Martha J.", "last_name"=>"Shrubsole", "scopus_author_id"=>"6505816308"}, {"first_name"=>"Maureen", "last_name"=>"Sanderson", "scopus_author_id"=>"7202315559"}, {"first_name"=>"Joe", "last_name"=>"Dennis", "scopus_author_id"=>"57197867113"}, {"first_name"=>"Kyriaki", "last_name"=>"Michailiou", "scopus_author_id"=>"55646027400"}, {"first_name"=>"Douglas F.", "last_name"=>"Easton", "scopus_author_id"=>"16471950000"}, {"first_name"=>"Xiao Ou", "last_name"=>"Shu", "scopus_author_id"=>"55630916600"}, {"first_name"=>"William J.", "last_name"=>"Blot", "scopus_author_id"=>"7102114492"}, {"first_name"=>"Wei", "last_name"=>"Zheng", "scopus_author_id"=>"35381589100"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"scopus"=>"2-s2.0-84875983273", "doi"=>"10.1371/journal.pone.0058350", "sgr"=>"84875983273", "isbn"=>"1932-6203", "pmid"=>"23593120", "issn"=>"19326203", "pui"=>"368695907"}, "id"=>"08dd8dd4-b23a-3c65-897b-c4dc2b59213a", "abstract"=>"Genome-wide association studies (GWAS), conducted mostly in European or Asian descendants, have identified approximately 67 genetic susceptibility loci for breast cancer. Given the large differences in genetic architecture between the African-ancestry genome and genomes of Asians and Europeans, it is important to investigate these loci in African-ancestry populations. We evaluated index SNPs in all 67 breast cancer susceptibility loci identified to date in our study including up to 3,300 African-American women (1,231 cases and 2,069 controls), recruited in the Southern Community Cohort Study (SCCS) and the Nashville Breast Health Study (NBHS). Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). A marginally significant association (P<0.10) was found for three additional SNPs: rs1045485 (2q33/CASP8), rs4849887 (2q14/INHBB), and rs4808801 (19p13/ELL). Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. The risk of breast cancer was elevated with an increasing number of risk variants, as measured by quintile of the genetic risk score, from 1.00 (reference), to 1.75 (1.30-2.37), 1.56 (1.15-2.11), 2.02 (1.50-2.74) and 2.63 (1.96-3.52), respectively, (P = 7.8 × 10(-10)). Results from this study highlight the need for large genetic studies in AAs to identify risk variants impacting this population.", "link"=>"http://www.mendeley.com/research/evaluating-genomewide-association-studyidentified-breast-cancer-risk-variants-africanamerican-women-2", "reader_count"=>31, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>2, "Researcher"=>4, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>8, "Student > Postgraduate"=>6, "Student > Master"=>6, "Other"=>1, "Student > Bachelor"=>3}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>2, "Researcher"=>4, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>8, "Student > Postgraduate"=>6, "Student > Master"=>6, "Other"=>1, "Student > Bachelor"=>3}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>9, "Mathematics"=>1, "Agricultural and Biological Sciences"=>11, "Medicine and Dentistry"=>6, "Physics and Astronomy"=>1, "Psychology"=>1, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>6}, "Physics and Astronomy"=>{"Physics and Astronomy"=>1}, "Psychology"=>{"Psychology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>11}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>9}, "Mathematics"=>{"Mathematics"=>1}, "Unspecified"=>{"Unspecified"=>1}}, "reader_count_by_country"=>{"Belgium"=>1, "United States"=>1, "Brazil"=>1, "Ghana"=>1}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1018251", "https://ndownloader.figshare.com/files/1018252"], "description"=>"<div><p>Genome-wide association studies (GWAS), conducted mostly in European or Asian descendants, have identified approximately 67 genetic susceptibility loci for breast cancer. Given the large differences in genetic architecture between the African-ancestry genome and genomes of Asians and Europeans, it is important to investigate these loci in African-ancestry populations. We evaluated index SNPs in all 67 breast cancer susceptibility loci identified to date in our study including up to 3,300 African-American women (1,231 cases and 2,069 controls), recruited in the Southern Community Cohort Study (SCCS) and the Nashville Breast Health Study (NBHS). Seven SNPs were statistically significant (<i>P</i>≤0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/<i>TERT</i>), rs999737 (14q24/<i>RAD51L1</i>), rs13387042 (2q35/<i>TNP1</i>), rs1219648 (10q26/<i>FGFR2</i>), rs8170 (19p13/<i>BABAM1</i>), rs17817449 (16q12/<i>FTO</i>), and rs13329835 (16q23/<i>DYL2</i>). A marginally significant association (<i>P</i><0.10) was found for three additional SNPs: rs1045485 (2q33/<i>CASP8</i>), rs4849887 (2q14/<i>INHBB</i>), and rs4808801 (19p13/<i>ELL</i>). Three additional SNPs, including rs1011970 (9p21/<i>CDKN2A/2B</i>), rs941764 (14q32/<i>CCDC88C</i>), and rs17529111 (6q14/<i>FAM46A</i>), showed a significant association in analyses conducted by breast cancer subtype. The risk of breast cancer was elevated with an increasing number of risk variants, as measured by quintile of the genetic risk score, from 1.00 (reference), to 1.75 (1.30–2.37), 1.56 (1.15–2.11), 2.02 (1.50–2.74) and 2.63 (1.96–3.52), respectively, (<i>P</i> = 7.8×10<sup>–10</sup>). Results from this study highlight the need for large genetic studies in AAs to identify risk variants impacting this population.</p></div>", "links"=>[], "tags"=>["Computational biology", "genomics", "Genome analysis tools", "Genome-wide association studies", "genetics", "Human genetics", "Cancer genetics", "epidemiology", "Cancer epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Cancers and neoplasms", "Breast tumors", "genome-wide", "study-identified", "cancer", "variants", "african-american"], "article_id"=>677568, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Jirong Long", "Ben Zhang", "Lisa B. Signorello", "Qiuyin Cai", "Sandra Deming-Halverson", "Martha J. Shrubsole", "Maureen Sanderson", "Joe Dennis", "Kyriaki Michailiou", "Douglas F. Easton", "Xiao-Ou Shu", "William J. Blot", "Wei Zheng"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0058350.s001", "https://dx.doi.org/10.1371/journal.pone.0058350.s002"], "stats"=>{"downloads"=>3, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Evaluating_Genome_Wide_Association_Study_Identified_Breast_Cancer_Risk_Variants_in_African_American_Women_/677568", "title"=>"Evaluating Genome-Wide Association Study-Identified Breast Cancer Risk Variants in African-American Women", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2013-04-08 02:06:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1018248"], "description"=>"a<p>The closest gene.</p>b<p>Risk/reference alleles based on NCBI Human Genome Build 36 forward strand.</p>c<p>Risk allele frequency of cases and controls.</p>d<p>Adjusted with age, study (NBHS and SCCS), and the first ten principal components.</p>e<p>Power to identify an association at an alpha level of 0.05 under additive model.</p>", "links"=>[], "tags"=>["Computational biology", "genomics", "Genome analysis tools", "Genome-wide association studies", "genetics", "Human genetics", "Cancer genetics", "epidemiology", "Cancer epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Cancers and neoplasms", "Breast tumors", "cancer", "10", "snps", "breast-cancer", "susceptibility", "loci", "african", "americans"], "article_id"=>677565, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Jirong Long", "Ben Zhang", "Lisa B. Signorello", "Qiuyin Cai", "Sandra Deming-Halverson", "Martha J. Shrubsole", "Maureen Sanderson", "Joe Dennis", "Kyriaki Michailiou", "Douglas F. Easton", "Xiao-Ou Shu", "William J. Blot", "Wei Zheng"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0058350.t002", "stats"=>{"downloads"=>0, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Associations_of_breast_cancer_risk_with_10_SNPs_located_in_reported_breast_cancer_susceptibility_loci_in_African_Americans_with_P_lt_0_1_/677565", "title"=>"Associations of breast cancer risk with 10 SNPs located in reported breast-cancer susceptibility loci in African Americans with P<0.1.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-04-08 02:06:05"}
  • {"files"=>["https://ndownloader.figshare.com/files/1018249"], "description"=>"a<p>The Nashville Breast Health Study.</p>b<p>The Southern Community Cohort Study.</p>c<p>Among parous women.</p>", "links"=>[], "tags"=>["Computational biology", "genomics", "Genome analysis tools", "Genome-wide association studies", "genetics", "Human genetics", "Cancer genetics", "epidemiology", "Cancer epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Cancers and neoplasms", "Breast tumors"], "article_id"=>677566, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Jirong Long", "Ben Zhang", "Lisa B. Signorello", "Qiuyin Cai", "Sandra Deming-Halverson", "Martha J. Shrubsole", "Maureen Sanderson", "Joe Dennis", "Kyriaki Michailiou", "Douglas F. Easton", "Xiao-Ou Shu", "William J. Blot", "Wei Zheng"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0058350.t001", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characteristics_of_study_participants_/677566", "title"=>"Characteristics of study participants.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-04-08 02:06:06"}
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PMC Usage Stats | Further Information

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Relative Metric

{"start_date"=>"2013-01-01T00:00:00Z", "end_date"=>"2013-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Biology and life sciences/Evolutionary biology", "average_usage"=>[302, 488, 607, 717, 832, 931, 1024, 1117, 1212, 1302, 1389, 1469, 1535]}, {"subject_area"=>"/Biology and life sciences/Molecular biology", "average_usage"=>[272, 466, 589, 702, 806, 903, 995, 1086, 1176, 1258, 1347, 1422, 1493]}, {"subject_area"=>"/Biology and life sciences/Population biology", "average_usage"=>[269, 448, 558, 658, 744, 830, 914, 995, 1068, 1139, 1214, 1284, 1349]}, {"subject_area"=>"/Medicine and health sciences", "average_usage"=>[264, 460, 584, 692, 794, 887, 978, 1067, 1154, 1241, 1328, 1408, 1474]}, {"subject_area"=>"/Medicine and health sciences/Oncology", "average_usage"=>[249, 468, 599, 718, 820, 920, 1008, 1093, 1181, 1281, 1357, 1444, 1517]}]}
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