A SNP in the ABCC11 gene is the determinant of human earwax type

• Published in: Nature genetics Vol. 38; no. 3; pp. 324 - 330
• Main Authors: Yoshiura, Koh-ichiro, Kinoshita, Akira, Ishida, Takafumi, Ninokata, Aya, Ishikawa, Toshihisa, Kaname, Tadashi, Bannai, Makoto, Tokunaga, Katsushi, Sonoda, Shunro, Komaki, Ryoichi, Ihara, Makoto, Saenko, Vladimir A, Alipov, Gabit K, Sekine, Ichiro, Komatsu, Kazuki, Takahashi, Haruo, Nakashima, Mitsuko, Sosonkina, Nadiya, Mapendano, Christophe K, Ghadami, Mohsen, Nomura, Masayo, Liang, De-Sheng, Miwa, Nobutomo, Kim, Dae-Kwang, Garidkhuu, Ariuntuul, Natsume, Nagato, Ohta, Tohru, Tomita, Hiroaki, Kaneko, Akira, Kikuchi, Mihoko, Russomando, Graciela, Hirayama, Kenji, Ishibashi, Minaka, Takahashi, Aya, Saitou, Naruya, Murray, Jeffery C, Saito, Susumu, Nakamura, Yusuke, Niikawa, Norio
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.03.2006
• Subjects: Asian people; ATP-Binding Cassette Transporters - genetics; Biological and medical sciences; Body fluids; Case-Control Studies; Cerumen - physiology; Chromosome Mapping; Continental Population Groups - genetics; Deoxyribonucleic acid; DNA; DNA testing; Eardrum; Earwax; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic aspects; Genetic Markers; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Genotype & phenotype; Humans; Identification and classification; Medicin och hälsovetenskap; Methods; Minority & ethnic groups; Molecular Sequence Data; Physiological aspects; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Single nucleotide polymorphisms; Japan; Human; Gene; Single nucleotide polymorphism
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng1733

Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G → A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. The allele A frequency shows a north-south and east-west downward geographical gradient; worldwide, it is highest in Chinese and Koreans, and a common dry-type haplotype is retained among various ethnic populations. These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G → A SNP is the first example of DNA polymorphism determining a visible genetic trait.