CAJ | 학술논문

目的 SLC2A9是新近发现的尿酸转运子，该基因单核苷酸多态性可影响血清尿酸水平。本研究检测SLC2A9基因第6内含子rs7442295多态性在中国男性痛风和原发性高尿酸血症患者中的分布情况以及与尿酸代谢指标的相关性。方法选取268例原发性痛风患者和288名健康志愿者，分别检测血压、体质量指数、血尿酸、血糖、血脂、肾功能水平，并同时提取外周血DNA，运用高分辨率熔解曲线(HRM)分析rs7442295基因型，并用测序法证实。统计学方法采用x2检验及t检验。结果运用HRM技术能准确区分rs7442295 A/A和A/G基因型，而G/G基因型则在本研究人群中未发现。A/A和A/G基因型在人群分布频率分别是96.2％和3.8％。与健康对照组相比，痛风组的A/A和A/G基因型频率及A、G等位基因频率分布差异无统计学意义(x2=0.003，P=0.82; x2=0.003，P=1.00)，但携带A/G基因型个体的尿酸水平[(293±100) μmol/L]明显低于携带A/A基因型的个体[(392±133) μmol/L]（t=2.426，P＜0.01），且正常尿酸组内A/G基因型频率明显高于高尿酸组(x2=6.279，P=0.01），基于HRM技术的基因分型结果与测序法所得结果完全一致。结论 SLC2A9基因rs7442295多态性可能是评估中国汉族男性人群原发性高尿酸血症危险性的一个遗传学标志，HRM技术简单、方便、快速，并实现闭管检测，非常适合单核苷酸多态性分析。
목적 SLC2A9시신근발현적뇨산전운자，해기인단핵감산다태성가영향혈청뇨산수평。본연구검측SLC2A9기인제6내함자rs7442295다태성재중국남성통풍화원발성고뇨산혈증환자중적분포정황이급여뇨산대사지표적상관성。방법 선취268례원발성통풍환자화288명건강지원자，분별검측혈압、체질량지수、혈뇨산、혈당、혈지、신공능수평，병동시제취외주혈DNA，운용고분변솔용해곡선(HRM)분석rs7442295기인형，병용측서법증실。통계학방법채용x2검험급t검험。결과 운용HRM기술능준학구분rs7442295 A/A화A/G기인형，이G/G기인형칙재본연구인군중미발현。A/A화A/G기인형재인군분포빈솔분별시96.2％화3.8％。여건강대조조상비，통풍조적A/A화A/G기인형빈솔급A、G등위기인빈솔분포차이무통계학의의(x2=0.003，P=0.82; x2=0.003，P=1.00)，단휴대A/G기인형개체적뇨산수평[(293±100) μmol/L]명현저우휴대A/A기인형적개체[(392±133) μmol/L]（t=2.426，P＜0.01），차정상뇨산조내A/G기인형빈솔명현고우고뇨산조(x2=6.279，P=0.01），기우HRM기술적기인분형결과여측서법소득결과완전일치。결론 SLC2A9기인rs7442295다태성가능시평고중국한족남성인군원발성고뇨산혈증위험성적일개유전학표지，HRM기술간단、방편、쾌속，병실현폐관검측，비상괄합단핵감산다태성분석。
Objective SLC2A9 is a novel identified urate transporter that affects serum uric acid levels. The present study is aimed to investigate rs7442295 polymorphism in intron 6 of SLC2A9 in a population of Chinese male gout or hypemricaemia subjects. Methods A total of 268 gout patients and 288 healthy male volunteers were included. Blood pressure, body mass index (BMI), serum uric acid, glucose, lipid,urea and creatine were detected. DNA was purified from peripheral blood and the rs7442295 polymorphism was evaluated using high resolution melting ( HRM ) analysis and direct sequencing. Data were analyzed with t test or chi-square test. Results A/A and A/G genotypes were unambiguously distinguished with HRM technology. The occurrence of the homozygous type (G/G) was completely absent among the study population.The prevalence of the A/A and A/G genotype was 96.2％ and 3.8％ respectively. However, no significant differences of genotype frequencies were found in gout patients and normal subjects (x2=0.003, P=0.82; x2=0.003, P=1.00). But the serum uric acid levels in individuals with the A/G genotype[(293±100) μmol/L]were significantly lower than those with the A/A genotype[(392±133) μmol/L](t=2.426, P＜0.01 ). The A/G genotype frequency was significantly higher in the low-uric acid group than in the high uric-acid group (x2=6.279, P=0.01 ). Genotyping based on HRM was fully concordant with sequencing. Conclusion The polymorphism rs7442295 in SLC2A9 may be a genetic marker to assess risk of hyperuricemia among Chinese male Hart population. HRM is a simple, fast, reliable and close-tube technology for genotyping.