Pharmacogenetics of Human ABC Transporter ABCC11: New Insights into Apocrine Gland Growth and Metabolite Secretion

Overview

Journal Front Genet

Date 2013 Jan 15

PMID 23316210

Citations 12

Authors

Toshihisa Ishikawa

Yu Toyoda

Koh-Ichiro Yoshiura

Norio Niikawa

Affiliations

Soon will be listed here.

Abstract

Cell secretion is an important physiological process that ensures smooth metabolic activities and tissue repair as well as growth and immunological functions in the body. Apocrine secretion occurs when the secretory process is accomplished with a partial loss of cell cytoplasm. The secretory materials are contained within secretory vesicles and are released during secretion as cytoplasmic fragments into the glandular lumen or interstitial space. The recent finding that the non-synonymous single nucleotide polymorphisms (SNP) 538G > A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in humans has shed light on the novel function of this ABC (ATP-binding cassette) transporter in apocrine glands. The wild-type (Gly180) of ABCC11 is associated with wet-type earwax, axillary osmidrosis, and colostrum secretion from the mammary gland as well as the potential risk of mastopathy. Furthermore, the SNP (538G > A) in the ABCC11 gene is suggested to be a clinical biomarker for the prediction of chemotherapeutic efficacy. The aim of this review article is to provide an overview on the discovery and characterization of genetic polymorphisms in the human ABCC11 gene and to explain the impact of ABCC11 538G > A on the apocrine phenotype as well as the anthropological aspect of this SNP in the ABCC11 gene and patients' response to nucleoside-based chemotherapy.

Citing Articles

Association between the gene polymorphism-determined earwax properties and external auditory canal microbiota in healthy adults.

Amari Y, Hosonuma M, Mizukami T, Isobe J, Azetsu Y, Funayama E Microbiol Spectr. 2025; 13(2):e0169824.

PMID: 39817749 PMC: 11792512. DOI: 10.1128/spectrum.01698-24.

Interplay of human ABCC11 transporter gene variants with axillary skin microbiome functional genomics.

Stevens B, Roesch L Sci Rep. 2024; 14(1):28037.

PMID: 39543265 PMC: 11564711. DOI: 10.1038/s41598-024-78711-w.

Functional characterization of variants in human ABCC11, an axillary osmidrosis risk factor.

Toyoda Y, Matsuo H, Takada T Hum Cell. 2024; 37(4):1070-1079.

PMID: 38750405 DOI: 10.1007/s13577-024-01074-x.

Objective Odor Assessment in Patients with Osmidrosis.

Kubomura K, Ogawa R, Sasaki N, Ichinose S, Akaishi S, Kuwahara H Plast Reconstr Surg Glob Open. 2022; 10(10):e4622.

PMID: 36299814 PMC: 9592423. DOI: 10.1097/GOX.0000000000004622.

Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.

Hlavac V, Vaclavikova R, Brynychova V, Kozevnikovova R, Kopeckova K, Vrana D Int J Mol Sci. 2020; 21(24).

PMID: 33334016 PMC: 7765380. DOI: 10.3390/ijms21249556.

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