Dataset Information

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

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.

SUBMITTER: Ren Y

PROVIDER: S-EPMC5423033 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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

Ren Yunqing Y Liu Wenting W Chen Jisu J Wang Jianyou J Wang Ke K Zhou Jiong J Cai Suiqing S Zheng Min M Liu Jianjun J Liu Lunfei L Xue Dan D

Scientific reports 20170509

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 ge ...[more]

PMID: 28485377

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Project description:Two types of cerumen occur in humans: the wet type with brownish, sticky earwax, and the dry type with a lack of or reduced ceruminous secretion. The wet type is common in populations of European and African origin, while the dry type is frequently seen in Eastern Asian populations. An association between axillary odor and the wet-type earwax was first identified approximately 70 years ago. The data were based on a phenotypical analysis of the two phenotypes among the Japanese by a researcher or by self-declaration of the subjects examined, and were not obtained using definite diagnostic methods. Recently, we identified a single-nucleotide polymorphism (SNP; rs17822931) of the ABCC11 gene as the determinant of the earwax types. In the present study, to determine whether the SNP can serve as a diagnostic marker for axillary osmidrosis (AO), we examined genotypes at rs17822931 in 79 Japanese AO individuals. AO was defined here as a clinical condition of individuals with a deep anxiety regarding axillary odor and had undergone the removal of bilateral axillary apocrine glands.A comparison of the frequencies of genotypes at rs17822931 in the 79 AO individuals and in 161 Japanese from the general population showed that AO was strongly associated with the wet earwax genotype. A total of 78 (98.7%) of 79 AO patients had either the GG or GA genotype, while these genotypes were observed in 35.4% (57/161) of the subjects from the general population (p < 1.1 x 10(-24), by Fisher's exact test).The strong association between the wet-earwax associated ABCC11-genotypes (GG and GA) and AO identified in this study indicates that the genotypes are good markers for the diagnosis of AO. In addition, these results suggest that having the allele G is a prerequisite for the axillary odor expression. In other words, the ABCC11 protein may play a role in the excretory function of the axillary apocrine gland. Together, these results suggest that when an AO individual visiting a hospital is diagnosed with dry-type earwax by ABCC11-genotyping, surgical removal of their axillary glands may not be indicated.

Project description:Apocrine osmidrosis (AO) is a chronic, recurrent, and disturbing disease characterized by malodorous secretion from apocrine glands. Despite various conservative and nonsurgical treatments, surgical removal of apocrine glands remains the cornerstone for AO treatment. Conventional suction-assisted cartilage shaver is effective; however, there are several risks and complications. Hence, we modified the conventional method to achieve better effectiveness and reduce complications. This paper aims to evaluate the clinical effectiveness and the complications arising from the modified suction-assisted cartilage shaver for AO. Thirty-nine patients (M/F=11/28, average age 26.3 years) received this surgical treatment for AO from 2013 to 2017 in the Department of Dermatology at Kaohsiung Chang Gung Memorial Hospital, Taiwan. A suction-assisted cartilage shaver was introduced for the ultimate removal of the subcutaneous tissue containing the apocrine glands. A 0.5 cm incision was made in the center of the identified elliptical surgical area at each axilla. After defatting, the incision was closed primarily. The defatting skin was anchored to the axillary fascia by using 4-0 sutures without drains. We then evaluated the clinical efficacy and complications. The mean duration of follow-up was 31.8 months (12-68 months). Among patients receiving the modified cartilage shaving for AO, 92.3% achieved excellent-to-good results, 5.1% had acceptable results, and 2.6% had fair results. None of them experienced poor clinical efficacy. There was no skin necrosis, hematoma, nor wound infection after the surgery. There were no recurrences in all these patients 2 years after the surgery. This modified suction-assisted cartilage shaver for AO results in good efficacy, a low complication rate, and a low recurrence rate. The method is superior to the conventional one due to tissue glue-free procedure, greater comfort in postoperative care, minimal wounds, less hematoma, and less skin necrosis. The clinical study registration number of this study is NCT03793374.

Dataset Information

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

Publications

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

Similar Datasets

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