Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Human Genetics, Genome Institute of Singapore, Singapore.
Sci Rep. 2017 May 9;7:46335. doi: 10.1038/srep46335.
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 (P = 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.
腋窝多汗症（Axillary osmidrosis，AO）是一种常见的病症，其特征为腋窝大汗腺分泌物产生的恶臭，对受影响个体的社交和心理造成损害。AO 的确切病因仍不完全清楚，但遗传因素被认为起着重要作用。最近，位于人类 16q12.1 染色体上的 ABCC11 基因中的单核苷酸多态性（Single nucleotide polymorphism，SNP）rs17822931 与 AO 相关。在这项研究中，我们使用 SNaPshot Multiplex Kit 对包括 93 名 AO 个体与 95 名对照者和 81 名 AO 个体与 106 名对照者在内的两个中国汉族独立样本进行了 rs17822931 基因分型。我们证实了 ABCC11 基因的关联，表明 rs17822931-G 与 AO 的发病风险增加显著相关（P=1.42E-21，OR=83.94，95%CI=83.03-84.85）。我们还发现 rs17822931 与 AO 的亚表型相关。携带风险等位基因 G 的 AO 个体更有可能出现湿性耳垢（P=2.40E-05）、家族史发生率更高（P=1.04E-02）和发病年龄更早（P=3.81E-02）。本研究得出结论，ABCC11 基因中的 rs17822931 与 AO 的关联在中国汉族人群中得到了复制。
