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1 October 2017 A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene
Yusuke S. Hori, Aiko Yamada, Norifumi Matsuda, Yusuke Ono, Dmytro Starenki, Nadiya Sosonkina, Koh-ichiro Yoshiura, Norio Niikawa, Tohru Ohta
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Abstract

A single nucleotide polymorphism in the ABCC11 gene, 538G>A (rs17822931), is known to determine human ear wax type. The G/G and G/A genotypes correspond to the wet type, while the A/A genotype corresponds to the dry type. Another earwax determinant, a 27-bp deletion (Δ27) downstream from the rs17822931 site, is a rare variant that leads to the dry phenotype. In a previous report, we found an individual with the G allele who unexpectedly showed the dry type of earwax, leading to the identification of Δ27. We also demonstrated that the Δ27 allele was present in individuals of Japanese, Thai, native North American, Andean, and Bolivian ancestry but absent in those of European and African ancestry. Here, we assessed the Δ27 allele frequency among Japanese and Ukrainian individuals and identified a novel association between the Δ27 and 538G>A mutations. The Δ27 allele frequency was 0.002 (3/1,520; one individual is heterozygous, and another is homozygous) among Japanese individuals and 0 (0/794) among Ukrainians. We also found a previously unreported homozygous genotype for both the Δ27 and A alleles. Our findings suggest that the Δ27 deletion may have occurred in an ABCC11 gene with the 538G>A mutation.

© 2018 Wayne State University Press, Detroit, Michigan 48201
Yusuke S. Hori, Aiko Yamada, Norifumi Matsuda, Yusuke Ono, Dmytro Starenki, Nadiya Sosonkina, Koh-ichiro Yoshiura, Norio Niikawa, and Tohru Ohta "A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene," Human Biology 89(4), 305-307, (1 October 2017). https://doi.org/10.13110/humanbiology.89.4.04
Received: 17 September 2017; Accepted: 6 March 2018; Published: 1 October 2017
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