Anthropological prospect of earwax determining gene and association between earwax and breast cancer
| Project/Area Number |
17590288
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Nagasaki University |
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Principal Investigator |
YOSHIURA Koh-ichiro Nagasaki University, Graduate School of Biomedical Sciences, Associate Professor, 大学院医歯薬学総合研究科, 助教授 (00304931)
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| Co-Investigator(Kenkyū-buntansha) |
NAGAYASU Takeshi Nagasaki University, Graduate School of Biomedical Sciences, Professor, 大学院医歯薬学総合研究科, 教授 (80284686)
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| Project Period (FY) |
2005 – 2006
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| Project Status |
Completed (Fiscal Year 2006)
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| Budget Amount *help |
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2006: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2005: ¥2,400,000 (Direct Cost: ¥2,400,000)
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| Keywords | earwax / ABCC / ABC transporter / breast cancer / 薬剤耐性 |
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| Research Abstract |
We performed association analysis using 118 samples (Wet:54, Dry:64) collected from the stuffs of Nagasaki University. Three SNPs, rs17822931 (ABCC11_c.538G>A), rs6500389 (LONPL_IVS12+7508A>G) and ss49784070 (LONPL_IVS14+320A>G) was candidate showing lowest p-value < 10^<-14>. The rs17822931 was the most likely to be the earwax determining SNP because the rs17822931 is in the exon5 in ABCC11 gene and results in nonsynonymous amino acid change, G180R, but others are within the repetitive sequences. Individual with GG or GA genotype is wet earwax and AA is dry. We found one individual with GA genotype but has dry earwax. The exceptional individual had 27 bp deletion in exon28 in ABCC11 gene as the result of sequencing analysis. So all of individuals analyzed in this study were explained by the SNPs in ABCC11 and we concluded that the earwax determinant is ABCC11, and earwax phenotype has strong founder effect.
Next, professor Nagayasu collected the blood samples from individuals with breast cancer and performed association analysis between earwax determinant SNP, rs17822931, in ABCC11 and breast cancer development. The result is shown in the following table.
genotype GG (Wet) GA (Wet) AA (Dry) total
case (breast cancer) 2 21 68 91
control 4 36 87 127
comparison by genotype (2x3 table) P-value = 0.599
comparison by phenotype (2x2 table) P-value = 0.318
No evidence that association between earwax type and breast cancer development.
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Report
(3 results)
Research Products
(6 results)
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[Journal Article] A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type.2006
Author(s)
Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa A, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N.
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Journal Title
Nature Genet. 38(3)
Pages: 324-330
Description
「研究成果報告書概要(欧文)」より
Related Report
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