CAJ | 학술논문

目的：探讨人线粒体超氧化物歧化酶2(mitochondrial superoxide dismutase 2, SOD2)基因多态性与云南地区突发性耳聋(idiopathic sensorineural hearing loss, SSNHL)患者遗传易感性的关系。方法采用病例-对照研究,选取78例(男35,女43)突发性耳聋患者和与之性别、年龄相匹配的85例(男39,女46)对照群体,对 SOD2基因的3个标签 SNP 位点(rs5746136、 rs2842960、 rs4880)进行基因分型,统计并分析了基因频率和基因型频率分布与突发性耳聋的遗传易感性的关系。结果在 rs5746136位点(OR ＝2.136,95％ CI ＝1.147~3.978, P ＝0.016)上的 A/ G 基因型可能是中国突发性耳聋患者的危险基因型,而 rs2842960和 rs4880则和中国突发性耳聋患者无相关性；结论 SOD2基因多态位点 rs5746136 A/ G 基因型可能增加突发性耳聋患者的风险,可以作为预测 SSNHL 患者发病危险及早期防治的的遗传标记。
목적：탐토인선립체초양화물기화매2(mitochondrial superoxide dismutase 2, SOD2)기인다태성여운남지구돌발성이롱(idiopathic sensorineural hearing loss, SSNHL)환자유전역감성적관계。방법채용병례-대조연구,선취78례(남35,녀43)돌발성이롱환자화여지성별、년령상필배적85례(남39,녀46)대조군체,대 SOD2기인적3개표첨 SNP 위점(rs5746136、 rs2842960、 rs4880)진행기인분형,통계병분석료기인빈솔화기인형빈솔분포여돌발성이롱적유전역감성적관계。결과재 rs5746136위점(OR ＝2.136,95％ CI ＝1.147~3.978, P ＝0.016)상적 A/ G 기인형가능시중국돌발성이롱환자적위험기인형,이 rs2842960화 rs4880칙화중국돌발성이롱환자무상관성；결론 SOD2기인다태위점 rs5746136 A/ G 기인형가능증가돌발성이롱환자적풍험,가이작위예측 SSNHL 환자발병위험급조기방치적적유전표기。
Objective To investigate the association between mitochondrial superoxide dis-mutase 2 ( SOD2) polymorphisms and genetic susceptibility of sudden sensorineural hearing loss (SSNHL) in patients in Yunnan province of China. Methods Three tag SNPs ( rs5746136, rs2842960, rs4880) variants were genotyped among 78 patients with SSNHL (male: 35, female:43) and 85 age- and sex-matched SSNHL-free control participants (male: 39, female: 46) in this case-control study. The association between gene frequency or gene frequency distribution and genet-ic susceptibility of SSNHL was statistically analyzed. Results rs5746136 (OR = 2. 136, 95% CI =1. 147 – 3. 978, P = 0. 016) A/ G genotype was associated with susceptibility to SSNHL in China, rather than rs2842960 and rs4880. Conclusion Individuals with the SOD2 rs5746136 A/ G geno-type have an increased risk of developing SSNHL, and the SOD2 rs5746136 A/ G genotype may be used as a genetic marker for prediction of the onset risk of SSNHL and early prevention and treat-ment of SSNHL.