Apolikhin O I, Sivkov A V, Konstantinova O V, Slominskii P A, Tupitsyna T V, Kalinichenko D N
N.A. Lopatkin Scientific Research Institute of Urology and Interventional Radiology branch of National Medical Radiological Research Center of Minzdrav of Russia, Moscow, Russia.
Institute of Molecular Genetics of RAS, Moscow, Moscow, Russia.
Urologiia. 2017 Jul(3):5-8. doi: 10.18565/urol.2017.3.5-8.
To identify risk groups for calcium oxalate urolithiasis among healthy individuals and patients with urolithiasis in the Russian population using molecular genetics.
The study comprised 72 patients with calcium oxalate urolithiasis (study group) and 189 healthy adults from the general Russian population (control group). The study group consisted of 39 (54.2%) men and 33 (45.8%) women. The mean age of urolithiasis patients was 41.5+/-12.4 years. Analysis of polymorphic variants of 8 candidate urolithiasis genes: tumor necrosis factor 11B (TNFRSF11B, rs3134057), -subunit of the nuclear estrogen receptor (ESR1, rs851982), Cloto gene (KL, rs526906), vitamin D receptor (VDR, rs1540339 ), an extracellular calcium-sensing receptor (CASR, rs2202127), membrane anion transporter family 26 (SLC26A6, rs2310996), tumor necrosis factor 11 (TNFSF11, rs9525641), the calcium release-activated calcium modulator 1 (ORAI1, rs7135617) in two groups was performed by real-time PCR using Applied Biosystems test. Statistical analysis was performed using Fishers angular transformation and 2.
In the polymorphism of the ORAI1 gene (rs7135617), the differences in the frequencies of the GG genotype and the G allele in the control sample and in the sample of patients with calcium oxalate urolithiasis were significant: p=0.0004 and p=0.001, respectively. No statistically significant differences in the genotype and allele frequencies were found in the remaining seven gene polymorphisms.
Healthy individuals and patients with urolithiasis in the Russian population who have the GG genotype and/or the G allele of the polymorphism of the ORAI1 gene (rs7135617) represent risk groups for the formation of calcium oxalate stones.
运用分子遗传学方法，在俄罗斯人群中的健康个体及尿路结石患者中，识别草酸钙尿路结石的风险群体。
本研究纳入72例草酸钙尿路结石患者（研究组）和189名来自俄罗斯普通人群的健康成年人（对照组）。研究组包括39名（54.2%）男性和33名（45.8%）女性。尿路结石患者的平均年龄为41.5±12.4岁。采用Applied Biosystems检测试剂盒，通过实时聚合酶链反应对8个候选尿路结石基因的多态性变体进行分析：肿瘤坏死因子11B（TNFRSF11B，rs3134057）、核雌激素受体β亚基（ESR1，rs851982）、克洛托基因（KL，rs526906）、维生素D受体（VDR，rs1540339）、细胞外钙敏感受体（CASR，rs2202127）、膜阴离子转运家族26（SLC26A6，rs2310996）、肿瘤坏死因子11（TNFSF11，rs9525641）、钙释放激活钙调制器1（ORAI1，rs7135617）。使用费舍尔角变换和卡方检验进行统计分析。
在ORAI1基因（rs7135617）的多态性中，对照组样本与草酸钙尿路结石患者样本中GG基因型和G等位基因频率的差异具有统计学意义：p值分别为0.0004和0.001。其余7个基因多态性的基因型和等位基因频率未发现统计学显著差异。
俄罗斯人群中具有ORAI1基因（rs7135617）多态性的GG基因型和/或G等位基因的健康个体及尿路结石患者，是草酸钙结石形成的风险群体。
