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

Yunqing Ren,Lunfei Liu,Dan Xue,Min Zheng,Ke Wang,Wenting Liu,Jianjun Liu,Jiong Zhou,Jianyou Wang,Suiqing Cai,Jisu Chen

doi:10.1038/srep46335

Abstract

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.

Highlights

Axillary Osmidrosis (AO) is known as a chronic skin condition characterized by strong body odor from the armpits resulting from excessive secretions of apocrine glands in the axilla that are converted to odoriferous compounds by bacteria
Positive family history was observed in 77.59% (135/174) of the Axillary osmidrosis (AO) individuals. 91.38% (159/174) of the AO individuals had wet-type earwax, which is consistent with the reported association between axillary odor and the wet-type earwax
We found consistent significant association of this single nucleotide polymorphism (SNP) with AO between the sample 1 (P = 2.49E-14, OR = 59.74, 95% CI = 20.87–171) and sample 2 (P = 4.20E-09, OR = 231.4, 95% CI = 37.65–1422) without any evidence for heterogeneity

Summary

Introduction

Axillary Osmidrosis (AO) is known as a chronic skin condition characterized by strong body odor from the armpits resulting from excessive secretions of apocrine glands in the axilla that are converted to odoriferous compounds by bacteria. The symptoms of AO generally develop around puberty and tend to be more prevalent in people of African descent as well as European populations[1] It does not affect physical health, but can be annoying and distressing, and can cause considerable personal and social embarrassment to persons, especially in Asian countries where individuals with strong body odor comprise a minor population[2]. The effect of genetic factors has been suggested to play an important role in the development of AO3 It has been reported about 94% of AO cases have family history, and some showed autosomal dominant pattern of inheritance[4]. ABCC11, known as multidrug resistance associated protein 8 (MRP8), is a member of the human ABC transporter gene family It is expressed in apocrine glands, and may have a key function in the secretion of odorants and their precursors[8,9]. Our study has confirmed the previously reported association with robust evidence, and revealed the association of rs17822931 with the clinical phenotypes of AO in Chinese population

Methods

Results

Conclusion