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A genome-wide association study of mammographic texture variation

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Pubmed体系：
作者：
Liu Yuxi[1,2] ; Chen Hongjie[3] ; Heine John[4] ; Lindstrom Sara[3,5] ; Turman Constance[1] ; Warner Erica T[6] ; Winham Stacey J[7] ; Vachon Celine M[8] ; Tamimi Rulla M[9,10] ; Kraft Peter[1,2,11] ; Jiang Xia[12,13] ;
机构： [1]Department of Epidemiology, Harvard T.H. Chan School of Public Health, . Boston, MA, USA. [2]Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, 655 Huntington Avenue, Building 2-249A, Boston, MA 02115, USA. [3]Department of Epidemiology, University of Washington, Seattle, WA, USA. [4]Division of Population Sciences, H. Lee Mof- ftt Cancer Center & Research Institute, Tampa, FL, USA. [5]Public Health Sciences Division, Fred Hutchinson Cancer Research ( enter, Seattle, WA, USA. [6]Clinical and Translational Epidemiology Unit, Department of Medicine, Mongan Institute, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. [7]Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA. [8]Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. [9]Channing Division of Network Medicine， Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. [10]Department of Population Health Sciences, Weill Cornell Medicine, New York, NY, USA. [11]Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. [12]Department of Clinical Neuroscience, ( enter for Molecular Medicine, Karolinska Institutet, Visions- gatan 18, 171 77 Solna, Stockholm, Sweden. [13]West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.
出处：
DOI： 10.1186/s13058-022-01570-8
ISSN：

摘要：
Breast parenchymal texture features, including grayscale variation (V), capture the patterns of texture variation on a mammogram and are associated with breast cancer risk, independent of mammographic density (MD). However, our knowledge on the genetic basis of these texture features is limited.We conducted a genome-wide association study of V in 7040 European-ancestry women. V assessments were generated from digitized film mammograms. We used linear regression to test the single-nucleotide polymorphism (SNP)-phenotype associations adjusting for age, body mass index (BMI), MD phenotypes, and the top four genetic principal components. We further calculated genetic correlations and performed SNP-set tests of V with MD, breast cancer risk, and other breast cancer risk factors.We identified three genome-wide significant loci associated with V: rs138141444 (6q24.1) in ECT2L, rs79670367 (8q24.22) in LINC01591, and rs113174754 (12q22) near PGAM1P5. 6q24.1 and 8q24.22 have not previously been associated with MD phenotypes or breast cancer risk, while 12q22 is a known locus for both MD and breast cancer risk. Among known MD and breast cancer risk SNPs, we identified four variants that were associated with V at the Bonferroni-corrected thresholds accounting for the number of SNPs tested: rs335189 (5q23.2) in PRDM6, rs13256025 (8p21.2) in EBF2, rs11836164 (12p12.1) near SSPN, and rs17817449 (16q12.2) in FTO. We observed significant genetic correlations between V and mammographic dense area (r<sub>g</sub> = 0.79, P = 5.91 × 10<sup>-5</sup>), percent density (r<sub>g</sub> = 0.73, P = 1.00 × 10<sup>-4</sup>), and adult BMI (r<sub>g</sub> =  - 0.36, P = 3.88 × 10<sup>-7</sup>). Additional significant relationships were observed for non-dense area (z =  - 4.14, P = 3.42 × 10<sup>-5</sup>), estrogen receptor-positive breast cancer (z = 3.41, P = 6.41 × 10<sup>-4</sup>), and childhood body fatness (z =  - 4.91, P = 9.05 × 10<sup>-7</sup>) from the SNP-set tests.These findings provide new insights into the genetic basis of mammographic texture variation and their associations with MD, breast cancer risk, and other breast cancer risk factors.© 2022. The Author(s).

基金：
CA244670 and CA194393. BCAC is funded by the European Union’s Horizon 2020 Research and Innovation Programme (grant numbers 634935 and 633784 for BRIDGES and B-CAST, respectively), and the PERSPECTIVE I&I project, funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministère de l’Économie et de l’Innovation du Québec through Genome Québec, the Quebec Breast Cancer Foundation. The EU Horizon 2020 Research and Innovation Programme funding source had no role in study design, data collection, data analysis, data interpretation or writing of the report. Additional funding for BCAC is provided via the Confuence project which is funded with intramural funds from the National Cancer Institute Intramural Research Pro￾gram, National Institutes of Health. Genotyping of the OncoArray was funded by the NIH Grant U19 CA148065, and Cancer UK Grant C1287/A16563 and the PERSPECTIVE project supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH- 129344) and, the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec and the PSRSIIRI-701 grant, and the Quebec Breast Cancer Foundation. Funding for iCOGS came from: the European Community’s Seventh Framework Programme under grant agreement n° 223175 (HEALTH￾F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112—the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, and Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund
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外文
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出版当年[2022]版：
大类 | 1 区 医学
小类 | 2 区 肿瘤学
最新[2023]版：
大类 | 1 区 医学
小类 | 2 区 肿瘤学
第一作者：
第一作者机构： [1]Department of Epidemiology, Harvard T.H. Chan School of Public Health, . Boston, MA, USA. [2]Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, 655 Huntington Avenue, Building 2-249A, Boston, MA 02115, USA.
通讯作者：
通讯机构： [1]Department of Epidemiology, Harvard T.H. Chan School of Public Health, . Boston, MA, USA. [2]Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, 655 Huntington Avenue, Building 2-249A, Boston, MA 02115, USA. [11]Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. [12]Department of Clinical Neuroscience, ( enter for Molecular Medicine, Karolinska Institutet, Visions- gatan 18, 171 77 Solna, Stockholm, Sweden. [13]West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.
推荐引用方式(GB/T 7714)：
Liu Yuxi,Chen Hongjie,Heine John,et al.A genome-wide association study of mammographic texture variation[J].Breast cancer research : BCR.2022,24(1):76.doi:10.1186/s13058-022-01570-8.
APA：
Liu Yuxi,Chen Hongjie,Heine John,Lindstrom Sara,Turman Constance...&Jiang Xia.(2022).A genome-wide association study of mammographic texture variation.Breast cancer research : BCR,24,(1)
MLA：
Liu Yuxi,et al."A genome-wide association study of mammographic texture variation".Breast cancer research : BCR 24..1(2022):76

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