肾结石与9型葡萄糖转运蛋白基因（SLC2A9）的关联：145例患者的研究
Association of nephrolithiasis and gene for glucose transporter type 9 (SLC2A9): study of 145 patients.
作者信息
Polasek Ozren, Gunjaca Grgo, Kolcić Ivana, Zgaga Lina, Dzijan Snjezana, Smolić Robert, Smolić Martina, Milas-Ahić Jasminka, Serić Vatroslav, Galić Josip, Tucak-Zorić Sandra, Tucak Antun, Rudan Igor, Lauc Gordan
机构信息
Department of Medical Statistics, Epidemiology, and Medical Informatics, Andrija Stampar School of Public Health, Medical School, University of Zagreb, Rockefellerova 4, 10000 Zagreb, Croatia.
出版信息
Croat Med J. 2010 Feb;51(1):48-53. doi: 10.3325/cmj.2010.51.48.
AIM
To investigate the association of nephrolithiasis and solute carrier family 2, facilitated glucose transporter, member 9 (SLC2A9), also known as glucose transporter type 9, Glut9.
METHODS
A total of 145 participants were recruited in the period April-October 2008 from the Department of Mineral Research of the Medical School Osijek, Osijek, Croatia; 58 (40%) had confirmed nephrolithiasis and 87 (60%) were asymptomatic. Four single nucleotide polymorphisms (SNP) from the SLC2A9 gene were genotyped in both groups (rs733175, rs6449213, rs1014290, and rs737267).
RESULTS
There was a weak but significant association of all 4 SNPs and nephrolithiasis (P=0.029 for rs733175; P=0.006 for rs6449213; P=0.020 for rs1014290, and P=0.011 for rs737267). Logistic regression in an age- and sex-adjusted model suggested that genotype C/T for rs6449213 had odds ratio for nephrolithiasis of 2.89 (95% confidence interval 1.13-7.40). This SNP explained a total of 4.4% of nephrolithiasis variance.
CONCLUSION
Development of nephrolithiasis may be associated with SLC2A9 gene. Further studies are needed to clarify the role of SLC2A9 gene as a link between uric acid and nephrolithiasis.
目的
研究肾结石与溶质载体家族2（易化葡萄糖转运蛋白9，即SLC2A9，也称为葡萄糖转运蛋白9，Glut9）之间的关联。
方法
2008年4月至10月期间，从克罗地亚奥西耶克医学院矿物研究部招募了145名参与者；其中58人（40%）确诊患有肾结石，87人（60%）无症状。对两组参与者的SLC2A9基因的四个单核苷酸多态性（SNP）进行基因分型（rs733175、rs6449213、rs1014290和rs737267）。
结果
所有4个SNP与肾结石之间均存在微弱但显著的关联（rs733175的P=0.029；rs6449213的P=0.006；rs1014290的P=0.020；rs737267的P=0.011）。在年龄和性别调整模型中的逻辑回归分析表明，rs6449213的C/T基因型患肾结石的优势比为2.89（95%置信区间为1.13 - 7.40）。该SNP总共解释了4.4%的肾结石变异。
结论
肾结石的发生可能与SLC2A9基因有关。需要进一步研究以阐明SLC2A9基因作为尿酸与肾结石之间联系的作用。
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