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Anthropological prospect of earwax determining gene and association between earwax and breast cancer

耳垢决定基因的人类学展望及耳垢与乳腺癌的关系

基本信息

批准号：
17590288
负责人：
YOSHIURA Koh-ichiro
金额：
$ 2.3万
依托单位：
Nagasaki University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17590288/
关键词：
earwax ABCC ABC transporter breast cancer 薬剤耐性

项目摘要

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) totalcase (breast cancer) 2 21 68 91control 4 36 87 127comparison by genotype (2x3 table) P-value = 0.599comparison by phenotype (2x2 table) P-value = 0.318No evidence that association between earwax type and breast cancer development.

我们使用从长崎大学的材料中收集的118个样品（湿：54，干：64）进行关联分析。三种SNP，rs 17822931（ABCC11_c.538G>A）、rs6500389（LONPL_IVS12+ 7508 A>G）和ss 49784070（LONPL_IVS14+ 320 A>G）是显示最低p值< 10 μ g的候选者<-14>。rs 17822931是最有可能是决定耳垢的SNP，因为rs 17822931位于ABCC 11基因的第5外显子，并导致非同义氨基酸改变，G180 R，但其他氨基酸在重复序列内。GG或GA基因型个体为湿耳垢，AA为干耳垢。我们发现了一个GA基因型的个体，但有干燥的耳垢。测序结果表明，该个体ABCC 11基因第28外显子有27个碱基缺失。因此，本研究中分析的所有个体都可以用ABCC 11上的SNPs来解释，我们得出结论，耳垢决定因子是ABCC 11，耳垢表型具有很强的奠基者效应。接下来，Nagayasu教授收集了乳腺癌患者的血液样本，进行了ABCC 11上耳垢决定因子SNP rs 17822931与乳腺癌发生的关联分析。结果如下表所示。基因型GG（湿型）GA（湿型）AA（干型）总例数（乳腺癌）2 21 68 91对照4 36 87 127基因型比较（2 × 3表）P值= 0.599表型比较（2 × 2表）P值= 0.318没有证据表明耳垢类型与乳腺癌发生之间存在关联。