title: Diagnosis of Human Axillary Osmidrosis by Genotyping of the Human ABCC11 Gene: Clinical Practice and Basic Scientific Evidence.
abstract: The importance of personalized medicine and healthcare is becoming increasingly recognized. Genetic polymorphisms associated with potential risks of various human genetic diseases as well as drug-induced adverse reactions have recently been well studied, and their underlying molecular mechanisms are being uncovered by functional genomics as well as genome-wide association studies. Knowledge of certain genetic polymorphisms is clinically important for our understanding of interindividual differences in drug response and/or disease risk. As such evidence accumulates, new clinical applications and practices are needed. In this context, the development of new technologies for simple, fast, accurate, and cost-effective genotyping is imperative. Here, we describe a simple isothermal genotyping method capable of detecting single nucleotide polymorphisms (SNPs) in the human ATP-binding cassette (ABC) transporter ABCC11 gene and its application to the clinical diagnosis of axillary osmidrosis. We have recently reported that axillary osmidrosis is linked with one SNP 538G>A in the ABCC11 gene. Our molecular biological and biochemical studies have revealed that this SNP greatly affects the protein expression level and the function of ABCC11. In this review, we highlight the clinical relevance and importance of this diagnostic strategy in axillary osmidrosis therapy.
authors.affiliation: Department of Pharmacy, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Toyoda
authors.affiliation: Gomi Clinic, 1-10-12 Hyakunin-cho, Shinjyuku-ku, Tokyo 169-0073, Japan.
authors.forename: Tsuneaki
authors.initials: T
authors.lastname: Gomi
authors.affiliation: Department of Applied Biological Chemistry, Graduate School of Bioscience and Biotechnology, Chubu University, 1200 Matsumoto-cho, Kasugai 487-8501, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakagawa
authors.affiliation: BioTec Co., Ltd., 2-29-4 Yushima, Bunkyo-ku, Tokyo 113-0034, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Nagakura
authors.affiliation: RIKEN Center for Life Science Technology, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan; NGO Personalized Medicine & Healthcare, Yokohama 226-0016, Japan.
authors.forename: Toshihisa
authors.initials: T
authors.lastname: Ishikawa
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001365:Axilla / Q000503:physiopathology*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013543:Sweat Gland Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: C435500:ABCC11 protein, human; D018528:ATP-Binding Cassette Transporters