دورية أكاديمية
Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers
| العنوان: | Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers |
|---|---|
| المؤلفون: | Lesseur, C., Ferreiro-Iglesias, A., McKay, J.D., Bossé, Y., Johansson, M., Gaborieau, V., Landi, M.T., Christiani, D.C., Caporaso, N.C., Bojesen, S.E., Amos, C.I., Shete, S., Liu, G., Rennert, G., Albanes, D., Aldrich, M.C., Tardon, A., Chen, C., Triantafillos, L., Field, J.K., Teare, M.D., Kiemeney, L.A., Diergaarde, B., Ferris, R.L., Zienolddiny, S., Lam, S., Olshan, A.F., Weissler, M.C., Lacko, M., Risch, A., Bickeböller, H., Ness, A.R., Thomas, S., Le Marchand, L., Schabath, M.B., Wünsch-Filho, V., Tajara, E.H., Andrew, A.S., Clifford, G.M., Lazarus, P., Grankvist, K., Arnold, S., Melander, O., Brunnström, H., Boccia, S., Cadoni, G., Timens, W., Obeidat, M., Xiao, X., Houlston, R.S., Hung, R.J., Brennan, P. |
| المصدر: | PLoS Genetics, 17(3) |
| بيانات النشر: | Public Library of Science |
| سنة النشر: | 2021 |
| المجموعة: | Carolina Digital Repository (UNC - University of North Carolina) |
| مصطلحات موضوعية: | gene linkage disequilibrium, odds ratio, Genome-Wide Association Study, cancer susceptibility, ABHD8 gene, genotype, TMEM173 gene, larynx squamous cell carcinoma, gene expression, controlled study, TMEM237 gene, STK19 gene, Biomarkers, Tumor, allele, cyclin dependent kinase inhibitor 2B, expression quantitative trait locus, HLA DQA1 gene, gene, tumor marker, CDKN2B AS1 gene, Humans, DNA damage, Genetic Predisposition to Disease, protein MDMX, major clinical study, squamous cell lung carcinoma, pathology, MDM4 gene, metabolism |
| الوصف: | Squamous cell carcinomas (SqCC) of the aerodigestive tract have similar etiological risk factors. Although genetic risk variants for individual cancers have been identified, an agnostic, genome-wide search for shared genetic susceptibility has not been performed. To identify novel and pleotropic SqCC risk variants, we performed a meta-analysis of GWAS data on lung SqCC (LuSqCC), oro/pharyngeal SqCC (OSqCC), laryngeal SqCC (LaSqCC) and esophageal SqCC (ESqCC) cancers, totaling 13,887 cases and 61,961 controls of European ancestry. We identified one novel genome-wide significant (Pmeta<5x10-8) aerodigestive SqCC susceptibility loci in the 2q33.1 region (rs56321285, TMEM273). Additionally, three previously unknown loci reached suggestive significance (Pmeta<5x10-7): 1q32.1 (rs12133735, near MDM4), 5q31.2 (rs13181561, TMEM173) and 19p13.11 (rs61494113, ABHD8). Multiple previously identified loci for aerodigestive SqCC also showed evidence of pleiotropy in at least another SqCC site, these include: 4q23 (ADH1B), 6p21.33 (STK19), 6p21.32 (HLA-DQB1), 9p21.33 (CDKN2B-AS1) and 13q13.1(BRCA2). Gene-based association and gene set enrichment identified a set of 48 SqCC-related genes to DNA damage and epigenetic regulation pathways. Our study highlights the importance of cross-cancer analyses to identify pleiotropic risk loci of histology-related cancers arising at distinct anatomical sites. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://doi.org/10.17615/jprp-xr21Test; https://cdr.lib.unc.edu/downloads/m900p540p?file=thumbnailTest; https://cdr.lib.unc.edu/downloads/m900p540pTest |
| DOI: | 10.17615/jprp-xr21 |
| الإتاحة: | https://doi.org/10.17615/jprp-xr21Test https://cdr.lib.unc.edu/downloads/m900p540p?file=thumbnailTest https://cdr.lib.unc.edu/downloads/m900p540pTest |
| رقم الانضمام: | edsbas.9539D711 |
| قاعدة البيانات: | BASE |
| DOI: | 10.17615/jprp-xr21 |
|---|