No Association of the rs17822931 Polymorphism in ABCC11 with Breast Cancer Risk in Koreans

  • Na, Ann-Yae (Department of Medical Genetics, Hanvit Institution for Medical Genetics, Keimyung University) ;
  • Heo, Jin-Chul (Department of Medical Genetics, Hanvit Institution for Medical Genetics, Keimyung University) ;
  • Sung, Jin Young (Department of Medical Genetics, Hanvit Institution for Medical Genetics, Keimyung University) ;
  • Lee, Jong-Ha (Department of Biomedical Engineering, School of Medicine, Dongsan Medical Center, Keimyung University) ;
  • Kim, Yoon-Nyun (Department of Internal Medicine, Dongsan Medical Center, Keimyung University) ;
  • Kim, Dae-Kwang (Department of Medical Genetics, Hanvit Institution for Medical Genetics, Keimyung University)
  • Published : 2016.05.01


ABCC11 is reported to be associated with breast cancer. However, whether ABCC11 polymorphisms relate to breast cancer risk remains unclear. This study aimed to evaluate any association of a single nucleotide polymorphism (SNP), rs17822931, in ABCC11 with breast cancer in Koreans. Genomic DNA samples of 170 women with breast cancer and 100 controls were assessed for SNP rs17822931 of ABCC11 by single-strand conformation polymorphism (SSCP) and DNA sequencing. A 27-bp deletion (${\Delta}27$) of ABCC11 was analyzed by PCR amplification. The genotype of SNP rs17822931 was confirmed to be AA in all samples from breast cancer patients and ${\Delta}27$ was found in none of the samples. Our finding indicated that the SNP rs17822931 in ABCC11 is not associated with breast cancer. However, this study does provide information on fundamental genetic aspects of ABCC11 with regard to breast cancer risk in Koreans.


ABCC11;breast cancer susceptibility;single nucleotide polymorphism (SNP);Koreans


Supported by : National Research Foundation of Korea (NRF), Ministry of Science, ICT and Future Planning


  1. J, Johnatty SE, Chen X, et al (2011). No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women. Breast Cancer Res Treat, 126, 235-9
  2. Bera TK, Lee S, Salvatore G, et al (2001). MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer. Mol Med, 7, 509-16
  3. Bieche I, Girault I, Urbain E, et al (2004). Relationship between intratumoral expression of genes coding for xenobiotic-metabolizing enzymes and benefit from adjuvant tamoxifen in estrogen receptor alpha-positive postmenopausal breast carcinoma. Breast Cancer Res, 6, R252-63
  4. Dubey PK, Goyal S, Mishra SK, et al (2015). Association analysis of polymorphism in thyroglobulin gene promoter with milk production traits in riverine buffalo (Bubalus bubalis). Meta Gene, 5, 157-61
  5. Gaudet MM, Milne RL, Cox A, et al (2009). Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev, 18, 1610-6
  6. Ha TW, Han KH, Son DG, et al (2005). Analysis of loss of heterozygosity in Korean patients with keratoacanthoma. J Korean Med Sci, 20, 340-3
  7. Ishikawa T, Toyoda Y, Yoshiura K, et al (2012). Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion. Front Genet, 3, 306
  8. Kim DK (2008). Evaluation of Single Nucleotide Polymorphism Responsible for the Determination of Earwax Type in Koreans. Korean Association Physical Anthropologists, 21, 287-91
  9. Kitano T, Yuasa I, Yamazaki K, et al (2008). Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene. Leg Med (Tokyo), 10, 113-4
  10. Lang T, Justenhoven C, Winter S, et al (2011). The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. Breast Cancer Res Treat, 129, 993-9
  11. Matsunaga E (1962). The dimorphism in human normal cerumen. Ann Hum Genet, 25, 273-86
  12. Ota I, Sakurai A, Toyoda Y, et al (2010). Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11. Anticancer Res, 30, 5189-94
  13. Petrakis NL (1971). Cerumen genetics and human breast cancer. Science, 173, 347-9
  14. Petrakis NL, King EB, Lee M, et al (1990). Cerumen phenotype and proliferative epithelium in breast fluids of U.S.-born vs. immigrant Asian women: a possible genetic-environmental interaction. Breast Cancer Res Treat, 16, 279-85
  15. Petrakis NL, Pingle U, Petrakis SJ, et al (1971). Evidence for a genetic cline in earwax types in the Middle East and Southeast Asia. Am J Phys Anthropol, 35, 141-4
  16. Sato T, Amano T, Ono H, et al (2009). Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan. J Hum Genet, 54, 409-13
  17. Toyoda Y, Sakurai A, Mitani Y, et al (2009). Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type? FASEB J, 23, 2001-13
  18. Yabuuchi H, Shimizu H, Takayanagi S, et al (2001). Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12. Biochem Biophys Res Commun, 288, 933-9
  19. Yoshiura K, Kinoshita A, Ishida T, et al (2006). A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet, 38, 324-30
  20. Zhu Z, Zhang H, Luo G, et al (2015). Association between the ABCC11 gene polymorphism and the expression of apolipoprotein D by the apocrine glands in axillary osmidrosis. Mol Med Rep, 11, 4463-7