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

@article{Yoshiura2006ASI,
  title={A SNP in the ABCC11 gene is the determinant of human earwax type},
  author={Koh-ichiro Yoshiura and Akira Kinoshita and Takafumi Ishida and Aya Ninokata and Toshihisa Ishikawa and Tadashi Kaname and Makoto Bannai and Katsushi Tokunaga and Shunro Sonoda and Ryo Komaki and Makoto Ihara and Vladimir A Saenko and Gabit Alipov and Ichiro Sekine and Kazuki Komatsu and Haruo Takahashi and Mitsuko Nakashima and Nadiya Sosonkina and Christophe K. Mapendano and Mohsen Ghadami and Masayo Nomura and Desheng Liang and Nobutomo Miwa and Dae-Kwang Kim and Ariuntuul Garidkhuu and Nagato Natsume and Tohru Ohta and Hiro-aki Tomita and Akira Kaneko and Mihoko Kikuchi and Graciela Russomando and Kenji Hirayama and Minaka Ishibashi and Aya Takahashi and Naruya Saitou and Jeffery C. Murray and Susumu Saito and Yusuke Nakamura and Norio Niikawa},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={324-330}
}
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… 
The impact of natural selection on an ABCC11 SNP determining earwax type.
TLDR
It is shown that absolute latitude is significantly associated with the allele frequency ofrs17822931-A in Asian, Native American, and European populations, implying that the selective advantage of rs178229 31-A is related to an adaptation to a cold climate.
Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan
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Results suggest that gene flow from the Northeastern Asian Continent to descendants of the Jomon/Epi-Jomon people of Hokkaido through the Okhotsk people occurred, resulting in the establishment of the Ainu.
Japanese map of the earwax gene frequency: a nationwide collaborative study by Super Science High School Consortium
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Although the allele-A frequency varied among the 47 prefectures, the Gifu/Kyoto and Okinawa prefecture showed the highest and lowest values, respectively, which may provide another line of evidence supporting a possible route of the Yayoi-man’s peopling in Japan.
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
  • Y. Toyoda, A. Sakurai, T. Ishikawa
  • Biology
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 2009
TLDR
The evidence is provided that this genetic polymorphism has an effect on the Alinked glycosylation of ABCC11, intracellular sorting, and proteasomal degradation of the variant protein.
Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population
  • S. Hara, T. Kusunoki, K. Ikeda
  • Medicine
    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • 2021
TLDR
The results suggest that the ABCC11 genotypes could be associated with the development of acquired middle ear cholesteatoma among Japanese people.
Wet Earwax Phenotype Determined by ABCC11 Polymorphism is a Highrisk Factor for Acne
TLDR
Wet earwax phenotype is a high-risk factor for acne and hyper-secretion of lipids from sebaceous glands elicited by ABCC11 may play an important role in the pathogenesis of acne.
A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene
TLDR
The strong association between the wet-earwax associated ABCC 11- genotypes (GG and GA) and AO identified in this study indicates that the genotypes are good markers for the diagnosis of AO, and suggests that the ABCC11 protein may play a role in the excretory function of the axillary apocrine gland.
HERC1 polymorphisms: population‐specific variations in haplotype composition
TLDR
One of the three common haplotypes observed was found to be characteristic of East Asians, who showed a relatively uniform distribution of haplotypes, in the first study to investigate the distribution of HERC1 polymorphisms in various populations.
Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11.
TLDR
Japanese women with wet earwax have a higher relative risk of developing breast cancer than those with dryEarwax, and the ABCC11 SNPs that determine these phenotypes should be further investigated in order to obtain insights into the mechanisms by which breast cancer develops and progresses.
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References

SHOWING 1-10 OF 34 REFERENCES
The dimorphism in human normal cerumen *
TLDR
It was shown that the ear‐wax types are apparently determined by a simple genetic mechanism, and can be used as a polymorphic system for both genetics and anthropology, and certain metabolic processes through which individuals with different types of oerumen may display different reactions to environmental changes.
A haplotype map of the human genome
TLDR
A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
TLDR
Mutation of the ABCA3 gene causes fatal surfactant deficiency in newborns and is critical for the proper formation of lamellar bodies and surfactan function and may also be important for lung function in other pulmonary diseases.
Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.
TLDR
By searching cDNA libraries from various human tissues, alternative splicing variants of ABCC11 and ABCC12 genes at significantly high frequencies are identified and may represent diverse biological functions of these ABC transporter genes.
Evidence for a genetic cline in earwax types in the Middle East and Southeast Asia.
TLDR
Evidence obtained on cerumen types in the Middle East and Southeast Asia indicate frequencies for the dry allele that are intermediate between previously reported high values in the northern Orient and low values in Caucasian and Negro populations, revealing a genetic cline in earwax types in this part of the world.
A functional study on polymorphism of the ATP-binding cassette transporter ABCG2: critical role of arginine-482 in methotrexate transport.
TLDR
It is concluded that Arg(482) is a critical amino acid moiety in the substrate specificity and transport of ABCG2 for certain drugs, such as methotrexate.
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