To explore the correlation between single nucleotide polymorphisms (SNPs) of hormone receptor gene or other related genes and axillary osmidrosis (AO). Methods: Whole blood samples of 219 patients with AO and 159 normal people were collected, and their genomic DNA was extracted. SNPs of 49 selected gene loci were detected and analyzed by using matrix-assisted laser analysis and ionization time of flight mass spectrometry and other related technologies. Results: There were significant differences in SNPs at rs1256061 of estrogen receptor β gene and rs17822931, rs16945916 and rs62058521 in ABCC11 gene between the AO patients and normal people (all P<0.01). 81.1% of patients with AO carried G allele at rs1256061, while only 63.2% of normal people carried G allele; 96.3% of patients with AO carried G allele at rs17822931, while only 4.4% of the normal people carried G allele; 28.6% of the patients with armpit odor carried the G allele of rs16945916, while only 0.6% of the normal people carried G allele; 28.0% of patients with AO carried G allele at rs62058521, while only 0.6% of the normal people carried G allele. Conclusion: SNPs of rs1256061 at the locus of estrogen receptor gene are correlated with the pathogenesis of AO, while SNPs at multiple loci (rs16945916, rs62058521 and rs17822931) in ABCC11 gene are correlated with the pathogenesis of AO.
目的：研究激素受体基因及其他相关基因的单核苷酸多态性与腋臭发病之间的相关性。方法：收集219名腋臭患者及159名正常人全血，提取全基因组DNA，使用基质辅助激光解析电离飞行时间质谱等相关技术对49个候选基因位点的单核苷酸多态性进行检测并分析。结果：雌激素受体β基因rs1256061位点及ABCC11基因的rs17822931，rs16945916和rs62058521三个位点的单核苷酸基因多态性在腋臭患者和正常人中的差异有统计学意义(均P<0.01)。81.1%的腋臭患者携带rs1256061位点G等位基因，而正常人只有63.2%携带了该位点的G等位基因；96.3%的腋臭患者携带 rs17822931位点G等位基因，而正常人只有4.4%携带该位点的G等位基因；28.6%的腋臭患者携带rs16945916位点G等位基因，而正常人组只有0.6%携带该位点的G等位基因；28.0%的腋臭患者携带rs62058521位点G等位基因，而正常人组只有0.6%携带该位点的G等位基因。结论：雌激素受体β基因位点rs1256061的单核苷酸多态性与腋臭的发病有关；ABCC11基因多个位点的单核苷酸多态性均与腋臭的发病相关，它们分别是rs16945916，rs62058521和rs17822931。.