Evaluating genome-wide association study-identified breast cancer risk variants in African-American women.
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 i...
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oai:doaj.org-article:af32eaf4e4a249cea15a4e42dac0d2ac2021-11-18T07:50:14ZEvaluating genome-wide association study-identified breast cancer risk variants in African-American women.1932-620310.1371/journal.pone.0058350https://doaj.org/article/af32eaf4e4a249cea15a4e42dac0d2ac2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23593120/?tool=EBIhttps://doaj.org/toc/1932-6203Genome-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.Jirong LongBen ZhangLisa B SignorelloQiuyin CaiSandra Deming-HalversonMartha J ShrubsoleMaureen SandersonJoe DennisKyriaki MichailidouDouglas F EastonXiao-Ou ShuWilliam J BlotWei ZhengPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 4, p e58350 (2013) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Jirong Long Ben Zhang Lisa B Signorello Qiuyin Cai Sandra Deming-Halverson Martha J Shrubsole Maureen Sanderson Joe Dennis Kyriaki Michailidou Douglas F Easton Xiao-Ou Shu William J Blot Wei Zheng Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. |
| description |
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. |
| format |
article |
| author |
Jirong Long Ben Zhang Lisa B Signorello Qiuyin Cai Sandra Deming-Halverson Martha J Shrubsole Maureen Sanderson Joe Dennis Kyriaki Michailidou Douglas F Easton Xiao-Ou Shu William J Blot Wei Zheng |
| author_facet |
Jirong Long Ben Zhang Lisa B Signorello Qiuyin Cai Sandra Deming-Halverson Martha J Shrubsole Maureen Sanderson Joe Dennis Kyriaki Michailidou Douglas F Easton Xiao-Ou Shu William J Blot Wei Zheng |
| author_sort |
Jirong Long |
| title |
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. |
| title_short |
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. |
| title_full |
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. |
| title_fullStr |
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. |
| title_full_unstemmed |
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. |
| title_sort |
evaluating genome-wide association study-identified breast cancer risk variants in african-american women. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/af32eaf4e4a249cea15a4e42dac0d2ac |
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