A SNP in the ABCC11 gene is the determinant of human earwax type (original) (raw)

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Acknowledgements

We are grateful to all volunteers, especially to Nagasaki University Administration Officers, for their participation in this study and are grateful to S. Horai, P. Duanchang, S. Pookajorn, A. Soemantri, W. Settheetham-Ishida, P.G. Babu, R. Kimura, P.N. Tongol-Rivera, K. Tajim, L.H. Sulaiman and K. Na-Bangchang for assistance in collecting samples. We also thank N. Yanai and Y. Noguchi for their technical assistance and S.M. Kennedy for correction of the manuscript. This study was supported in part by CREST from the Japan Science and Technology Agency (JST) and Grants-in-Aid for Scientific Research (Category S, No. 13854024; Priority Area 'Applied Genomics' No. 17019055; Category C, No. 17590288) from the Ministry of Education, Culture, Sports, Science and Technology of Japan.

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Authors and Affiliations

1. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
   Koh-ichiro Yoshiura, Akira Kinoshita, Mitsuko Nakashima, Nadiya Sosonkina, Christophe K Mapendano, Mohsen Ghadami, Masayo Nomura, Nobutomo Miwa & Norio Niikawa
2. Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology, Kawaguchi, Japan
   Koh-ichiro Yoshiura, Akira Kinoshita, Tadashi Kaname, Mitsuko Nakashima, Nadiya Sosonkina, Christophe K Mapendano, Mohsen Ghadami, Masayo Nomura, De-Sheng Liang, Nobutomo Miwa, Tohru Ohta & Norio Niikawa
3. Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan
   Takafumi Ishida & Aya Ninokata
4. Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama, Japan
   Toshihisa Ishikawa
5. Department of Medical Genetics, University of the Ryukyu School of Medicine, Okinawa, Japan
   Tadashi Kaname
6. Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
   Makoto Bannai & Katsushi Tokunaga
7. Research and Development Center, Kagoshima University, Kagoshima, Japan
   Shunro Sonoda
8. Cosmetics Laboratory, Kanebo Cosmetics, Inc., Odawara, Japan
   Ryoichi Komaki
9. Department of Radiation Biophysics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
   Makoto Ihara
10. International Health and Radiation Research, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Vladimir A Saenko
11. Department of Molecular Pathology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Gabit K Alipov & Ichiro Sekine
12. Department of Otolaryngology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Kazuki Komatsu & Haruo Takahashi
13. Department of Plastic and Reconstructive Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Mitsuko Nakashima
14. Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Masayo Nomura
15. National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China
    De-Sheng Liang
16. Department of Anatomy, Hanvit Institute for Medical Genetics, Keimyung University School of Medicine, Taegu, Korea
    Dae-Kwang Kim
17. Graduate School of Dentistry, Aichi Gakuin University, Nagoya, Japan
    Ariuntuul Garidkhuu & Nagato Natsume
18. Research Institute of Personalized Health Sciences, Health Science University of Hokkaido, Ishikari-Tobetsu, Japan
    Tohru Ohta
19. Department of Psychiatry and Human Behavior, Human Genetics Laboratory, University of California, Irvine, USA
    Hiroaki Tomita
20. Malaria Research Laboratory, Karolinska University Hospital, Stockholm, Sweden
    Akira Kaneko
21. Department of Molecular Immunogenetics, Institute of Tropical Medicine, Nagasaki University, Nagasaki, Japan
    Mihoko Kikuchi & Kenji Hirayama
22. Departamento de Biologia Molecular, Instituto de Investigaciones en Ciencias de la Salud, Universidad Nacional de Asuncion, Paraguay
    Graciela Russomando
23. Division of Population Genetics, National Institute of Genetics, Mishima, Japan
    Minaka Ishibashi, Aya Takahashi & Naruya Saitou
24. Department of Pediatrics, University of Iowa, Iowa City, USA
    Jeffery C Murray
25. Laboratory for SNP Analysis, SNP Research Center, The Institute of Physical and Chemical Research (RIKEN), Tokyo, Japan
    Susumu Saito & Yusuke Nakamura
26. Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan
    Yusuke Nakamura

Authors

1. Koh-ichiro Yoshiura
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2. Akira Kinoshita
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3. Takafumi Ishida
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4. Aya Ninokata
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5. Toshihisa Ishikawa
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6. Tadashi Kaname
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7. Makoto Bannai
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8. Katsushi Tokunaga
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9. Shunro Sonoda
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10. Ryoichi Komaki
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11. Makoto Ihara
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12. Vladimir A Saenko
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13. Gabit K Alipov
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14. Ichiro Sekine
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15. Kazuki Komatsu
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16. Haruo Takahashi
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17. Mitsuko Nakashima
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18. Nadiya Sosonkina
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19. Christophe K Mapendano
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20. Mohsen Ghadami
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21. Masayo Nomura
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22. De-Sheng Liang
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23. Nobutomo Miwa
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24. Dae-Kwang Kim
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25. Ariuntuul Garidkhuu
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26. Nagato Natsume
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27. Tohru Ohta
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28. Hiroaki Tomita
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29. Akira Kaneko
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30. Mihoko Kikuchi
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31. Graciela Russomando
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32. Kenji Hirayama
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33. Minaka Ishibashi
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34. Aya Takahashi
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35. Naruya Saitou
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36. Jeffery C Murray
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37. Susumu Saito
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38. Yusuke Nakamura
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39. Norio Niikawa
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Corresponding author

Correspondence toKoh-ichiro Yoshiura.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Table 1

Three-locus genotypes of 118 and 126 Japanese whose earwax types were self-declared and diagnosed otologically, and who underwent the first- and second-step association analyses, respectively. (PDF 47 kb)

Supplementary Table 2

Genotypes at the rs17822931 site and frequencies of alleles “A” and Δ27 in ABCC11 and of dry cerumen among different human populations. (PDF 78 kb)

Supplementary Table 3

Inferred haplotypes' frequencies at three polymorphic loci (rs17822931-rs6500380-ss49784070) in the Japanese (Nagasaki inhabitants), Southern Han Chinese (Changsha inhabitants), Native Americans, Native Bolivians, and the CEPH families of European origin. (PDF 51 kb)

Supplementary Table 4

Primer sequences for 24 SNPs that were used for haplotyping in a 600-kb interval and its flanking region. (PDF 64 kb)

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Yoshiura, Ki., Kinoshita, A., Ishida, T. et al. A SNP in the ABCC11 gene is the determinant of human earwax type.Nat Genet 38, 324–330 (2006). https://doi.org/10.1038/ng1733

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• Received: 03 October 2005
• Accepted: 13 December 2005
• Published: 29 January 2006
• Issue Date: 01 March 2006
• DOI: https://doi.org/10.1038/ng1733