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

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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.