Functional characterisation of a SNP in the ABCC11 allele—Effects on axillary skin metabolism, odour generation and associated behaviours

Harker, Mark; Carvell, Ann-Marie; Marti, V. P. J.; Riazanskaia, Svetlana; Kelso, Hailey; Taylor, David R.; Grimshaw, Sally; Arnold, David H.; Zillmer, Ruediger; Shaw, Jane; Kirk, Jayne; Alcasid, Zee M.; Gonzales-Tanon, Sheila; Chan, Gertrude P.; Rosing, Egge A E; Smith, Adrian

doi:10.1016/j.jdermsci.2013.08.016

Cited by 35 publications

(42 citation statements)

References 36 publications

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“…These results are in agreement with previously published reports indicating that a functional C allele of ABCC11 is essential for the formation of human axillary odor (Martin et al 2010), and the SNP in the ABCC11 gene results in lower levels of axillary odor precursors in T/T homozygotes compared to those carrying the C allele (Harker et al 2014). Therefore, we hypothesize that cerumen can be used as a surrogate model for axillary odor production.…”

Section: Discussionsupporting

confidence: 93%

“…However, only recently have individuals’ genetic, cultural, and ancestral backgrounds been explored with regard to human odor production (Harker et al 2014; Martin et al 2010; Prokop-Prigge et al 2014). Much of the latter has focused on diversity that exists in a gene central to human odor production, viz., ATP-binding cassette, sub-family C, member 11 ( ABCC11 ).…”

Section: Introductionmentioning

confidence: 99%

“…This relationship is believed to explain the connection between cerumen type and axillary odor production. TT homozygotes for rs17822931 display few characteristic axillary odorants while the C allele is associated with sufficient production of axillary odor (Harker et al 2014; Martin et al 2010; Preti and Leyden 2010). We recently have described the nature and abundance of cerumen odor (Prokop-Prigge et al 2014), and in the present report examine the effects of ethnicity and the ABCC11 SNP on cerumen volatile profiles.…”

Section: Introductionmentioning

confidence: 99%

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Ethnic/Racial and Genetic Influences on Cerumen Odorant Profiles

et al. 2014

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This report describes the volatile organic compounds (VOCs) associated with human cerumen (earwax) and the effects of ethnicity/race and variation on the ATP-binding cassette, sub-family C, member 11 gene (ABCC11). A single nucleotide polymorphism (SNP) in ABCC11 affects the cerumen VOC profiles of individuals from African, Caucasian, and Asian descent. Employing gas chromatography/mass spectrometry (GC/MS) we have identified the nature and relative abundance of cerumen VOCs from 32 male donors. Our results show that cerumen contains a complex mixture of VOCs and that the amounts of these compounds vary across individuals as well as across ethnic/racial groups. In six of the seven compounds whose detected concentrations were found to be statistically different across groups, individuals of African descent (AfD) > Caucasian descent (CaD) > Asians descent (AsD). Our findings also reveal that ABCC11 genotype alone does not predict the type and relative levels of volatiles found in human cerumen, and suggest that other biochemical pathways must be involved. Examination of the composition and diversity of external auditory canal microbiota in a small subset of our subject population revealed that the ear microbiota may not be directly correlated with either ethnic group membership or ABCC11 genotype.

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Section: Discussionsupporting

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Ethnic/Racial and Genetic Influences on Cerumen Odorant Profiles

et al. 2014

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“…39 This genetic variant also impacts the composition of the axillary skin microbiota, where relative abundance of Staphylococcus is decreased and Corynebacterium increased in individuals carrying A/A genotype, as compared to those with G/A and G/G genotype. 40 Deodorants containing probiotics and/or prebiotics may in the future be a feasible strategy to combat body odor, where odor-producing bacteria would be competed away with recolonization by non-odor producing bacteria.…”

Section: Moist Skin: Body Odor and Atopic Dermatitismentioning

confidence: 99%

The skin microbiome: potential for novel diagnostic and therapeutic approaches to cutaneous disease

Grice¹

2014

Sem Cutan Med Surg

193

147

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A vast diversity of microorganisms, including bacteria, fungi, viruses, and arthropods, colonize the human skin. Culture-independent genomic approaches for identifying and characterizing microbial communities have provided glimpses into the topographical, temporal, and interpersonal complexity that defines the skin microbiome. Identification of changes associated with cutaneous disease, including acne, atopic dermatitis, rosacea, and psoriasis, are being established. In this review, our current knowledge of the skin microbiome in health and disease is discussed, with particular attention to potential opportunities to leverage the skin microbiome as a diagnostic, prognostic, and/or therapeutic tool.

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“…Given the long recognized strong association of AO with wet earwax, the association of rs17822931 with AO was suspected and later confirmed by multiple studies. And subsequent molecular studies has further demonstrated the strong impact of this SNP on the protein expression level and function of ABCC11 7812. It has been showed that ABCC11 encodes an protein component of apical efflux pump and plays an important role in the secretion of key body odorants ((E)-3-methyl-2-hexenoic acid (E-3M2H), 3-methyl-3-sulfanylhexanol (3M3SH) and 3-hydroxy-3-methyl-hexanoic acid(HMHA)) and their precursors (the amino-acid conjugates 3M2H–Gln, HMHA—Gln, and Cys–Gly–(S) 3M3SH) from apocrine sweat glands813.…”

Section: Discussionmentioning

confidence: 97%

A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population

Ren

Liu

Chen

et al. 2017

Sci Rep

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Axillary osmidrosis (AO) is a common condition characterized by an offensive odor arising from apocrine gland secretions in the axillae that socially and psychologically impairs affected individuals. The exact aetiology of AO is still not fully understood, but genetic factors have been suggested to play an important role. Recently, a single nucleotide polymorphism (SNP) rs17822931 in the ABCC11 gene located on human chromosome 16q12.1 has been shown to be associated with AO. In this study, we genotyped rs17822931 in two independent samples of Chinese Hans including 93 AO individuals vs 95 controls and 81 AO individuals vs 106 controls by using SNaPshot Multiplex Kit. We confirmed the association for ABCC11 gene, showing that rs17822931-G was significantly associated with increased risk for AO (Pcombined = 1.42E-21, OR = 83.94, 95% CI = 83.03–84.85). We also found rs17822931 was associated with subphenotypes of AO. AO individuals carrying the risk allele G are more likely to show wet earwax (P = 2.40E-05), higher frequency of family history (P = 1.04E-02) and early age of onset (P = 3.81E-02). Our study concluded that the association of rs17822931 in the ABCC11 gene with AO was replicated in Chinese Han population.

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Functional characterisation of a SNP in the ABCC11 allele—Effects on axillary skin metabolism, odour generation and associated behaviours

Cited by 35 publications

References 36 publications

Ethnic/Racial and Genetic Influences on Cerumen Odorant Profiles

Ethnic/Racial and Genetic Influences on Cerumen Odorant Profiles

The skin microbiome: potential for novel diagnostic and therapeutic approaches to cutaneous disease

A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population

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