Analyzing 395,793 samples shows significant association between rs999737 polymorphism and breast cancer

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• 作者：Haiying Dong (1)
  Zhiying Gao (1)
  Chengchong Li (1)
  Junping Wang (1)
  Ming Jin (1)
  Hua Rong (1)
  Yingcai Niu (1)
  Jicheng Liu (1)
  
• 关键词：Genome ; wide association studies ; Breast cancer ; rs999737 polymorphism ; European and Asian populations
• 刊名：Tumor Biology
• 出版年：2014
• 出版时间：June 2014
• 年：2014
• 卷：35
• 期：6
• 页码：6083-6087
• 全文大小：
• 参考文献：1. Zheng W, Zhang B, Cai Q, Sung H, Michailidou K, Shi J, et al. Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls. Hum Mol Genet. 2013;22(12):2539-0. CrossRef
  2. Gu C, Zhou L, Yu J. Quantitative assessment of 2q35-rs13387042 polymorphism and hormone receptor status with breast cancer risk. PLoS One. 2013;8(7):e66979. CrossRef
  3. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106(23):9362-. CrossRef
  4. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009;41(5):579-4. CrossRef
  5. Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, et al. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20(23):4693-06. CrossRef
  6. Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, et al. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2011;20(16):3304-1. CrossRef
  7. Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013;45(4):392-. 398e391-92. CrossRef
  8. Campa D, Kaaks R, Le Marchand L, Haiman CA, Travis RC, Berg CD, et al. Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. J Natl Cancer Inst. 2011;103(16):1252-3. CrossRef
  9. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4):353-1. 361e351-352. CrossRef
  10. Clark MF, Baudouin SV. A systematic review of the quality of genetic association studies in human sepsis. Intensive Care Med. 2006;32(11):1706-2. CrossRef
  11. Lv H, Jiang Y, Li J, Zhang M, Shang Z, Zheng J, et al. Association between polymorphisms in the promoter region of interleukin-10 and susceptibility to inflammatory bowel disease. Mol Biol Rep. 2014;41(3):1299-10. CrossRef
  12. Liu G, Zhang S, Cai Z, Ma G, Zhang L, Jiang Y, et al. PICALM gene rs3851179 polymorphism contributes to Alzheimer's disease in an Asian population. Neuromol Med. 2013;15(2):384-. CrossRef
  13. Johnson J, Healey S, Khanna KK, Chenevix-Trench G. Mutation analysis of RAD51L1 (RAD51B/REC2) in multiple-case, non-BRCA1/2 breast cancer families. Breast Cancer Res Treat. 2011;129(1):255-3. CrossRef
  14. Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J, et al. Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2012;21(7):1156-6. CrossRef
  
• 作者单位：Haiying Dong (1)
  Zhiying Gao (1)
  Chengchong Li (1)
  Junping Wang (1)
  Ming Jin (1)
  Hua Rong (1)
  Yingcai Niu (1)
  Jicheng Liu (1)
  
  1. Institute of Pathology, Qiqihar Medical University, Qiqihar, 161006, China
  
• ISSN：1423-0380

文摘

Large-scale genome-wide association studies (GWAS) have been conducted and reported the association between rs999737 polymorphism at 14q24.1 (RAD51L1) and breast cancer risk. Following studies investigated rs999737 polymorphism in European and Asian populations. However, some of these studies reported weak and no significant association. Here, we reevaluated this association using large-scale samples from previous 11 studies (n--95,793; 162,261 cases and 233,532 controls) from the PubMed database. We evaluated the genetic heterogeneity among the selected studies. The pooled odds ratio (OR) is calculated by the fixed effect model. All statistical tests for heterogeneity and meta-analysis were computed using R package. We did not identify significant heterogeneity among the included studies using the allele model (P--.1314 and I 2--3.4?%). We observed significant association between rs999737 and breast cancer using the allele model (P--.47E??-5, OR--.92, 95?% confidence interval (CI) 0.91-.93). Our analysis further supports previous findings that the rs999737 polymorphism contributes to breast cancer susceptibility. We believe that our finding will be very useful for future genetic studies in breast cancer.