维生素D受体TaqI基因多态性与儿童肾病综合征激素治疗敏感性的关系
Vitamin D Receptor Gene TaqI Polymorphisms and Steroid Responsiveness in Childhood Nephrotic Syndrome
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摘要: 目的 探讨维生素D受体TaqI基因多态性与儿童肾病综合征激素治疗敏感性的关系.方法 研究对象为2015年5月至2016年11月收住昆明医科大学第一附属医院儿科的70例肾病综合症患儿, 维生素D受体TaqI基因多态性检测方法为PCR扩增产物酶切后琼脂糖凝胶电泳检测.结果 在70例肾病综合征患儿中, 其中激素敏感型42例, 激素耐药型28例.在42例激素敏感型肾病综合症患儿中, TT基因型频率57.1%, 在28例激素耐药型肾病综合症患儿中, TT基因型频率57.1%, (P=1.000) .在42例激素敏感型肾病综合症患儿中, Tt基因型频率26.2%, 在28例激素耐药型肾病综合症患儿中, Tt基因型频率25.0%, (P=0.911) .在42例激素敏感型肾病综合症患儿中, tt基因型频率16.7%, 在28例激素耐药型肾病综合症患儿中, tt基因型频率17.9%, (P=0.897) .在42例激素敏感型肾病综合症患儿中, T基因频率70.2%, t基因频率29.8%, 在28例激素耐药型肾病综合症患儿中, T基因频率69.6%, t基因频率30.4%, (P=0.096) .等位基因型频率与等位基因频率在激素敏感型与激素耐药型之间无统计学意义.结论 维生素D受体TaqI基因多态性不能作为肾病综合症的标志基因, 也不能预测肾病综合症患儿对激素治疗的反应性.不能作为激素耐药型肾病综合征的标志基因.
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关键词:
- 肾病综合症 /
- 激素敏感型 /
- 激素耐药型 /
- 维生素D受体TaqI基因多态性
Abstract: Objective To determine the frequency of gene and the association of VDR gene polymorphismswith nephrotic syndrome (NS) and steroid responsiveness in Yun Nan children, so as to guide the use of hormone and immune inhibitor in this disease.Methods The subjects of the study were the 70 cases of children with nephrotic syndrome in pediatrics in the first affiliated hospital of kunming medical university from2015, May to 2016, November. Genotypes of the VDR TaqI gene polymorphism were analyzed using the PCR amplification product enzyme and agarose gel electrophoresis.Results A total of 70 NS (42 steroid sensitive [SS]and 28 steroid resistant [SR]) patientswith a mean age of 9.14 ±3.80 years were studied. The TT genotypeof VDR-TaqI polymorphism was detected in 57.1% of the SS patients compared to 57.1% of SR patients (P=1.000) .The Tt genotype was detected in 26.2% of SS patientscompared to 25.0% of SR patients (P =0.911) . The tt genotype was detected in 16.7% of SS patients compared to 17.9% of SR patients (P =0.897) . The T-allele frequency was 70.2% in SS patients compared to 69.6% of SR patients.The t-allele frequency was 29.8% in SS patients compared to 30.4% of SR patients (P =0.096) .No significant difference was detected in terms of VDR-Apal polymorphism in SS patients compared to SR patientsfor all the three genotypes (P =1.000, P =0.911, and P=0.897) . No significant difference was found in any of the allele frequencies between SS and SR (P =0.096) .Conclusion Vitamin D Receptor Gene TaqI polymorphisms has no correlation with the steroid responsiveness in childhood nephrotic syndrome. -
[1]胡亚美, 江载芳, 申昆玲, 等, 诸福棠实用儿科学[M].第8版.北京:人民卫生出版社, 2015:1757-1754. [2] [2]HD F U, GL QIAN, ZY JIANG.Comparison of second-line immunosuppressants for childhood refractory nephroticsyndrome:a systematic review and network meta-analysis[J].Journal of Investigative Medicine the Official Publication of the American Federation for Clinical Research, 2017, 65 (1) :65-71. [3] [3]TAKU NAKAGAWA, ATSUTOSHI SHIRATORI, YASUO KAWABA, et al, Efficacy of rituximab therapy against intractable steroid-resistant nephrotic syndrome[J].Pediatrics International Official Journal of the Japan Pediatric Society, 2016, 58 (10) :1003-1008. [4] [4]KAZUMOTO IIJIMA, MAYUMI SAKO, KANDAI NOZU, Rituximab for nephrotic syndrome in children[J].Clin Exp Nephrol, 2017, 21 (2) :193-202. [5] [5]AL-EISA A A, HAIDER M Z, VITAMIN D.Receptor gene taq I and apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome[J].International Journal of Nephrology and Renovascular Disease, 2016, 5 (9) :187-192. [6] [6]UITTERLINDEN A G, FANG Y, VAN MEURS J B, VAN LEEUWEN H, et al.Vitamin dreceptor gene polymorphism in relation to vitamin drelated disease states[J].J Steroid Biochem Mol Biol, 2004, 89-90 (1-5) :187-193. [7]席卫平, 杨建平, 李连青, 等.维生素D受体基因Apa I位点多态性与维生素D缺乏性佝偻病的研究[J].中华儿科杂志, 2005, 43 (7) :514-516. [8] [8]SHARLA K, AMES, KENNETH J, et al.Vitamin D receptor gene fok1 polymorphism predicts calcium absorption and bone mineral densityin children[J].Journal of Bone and Mineral Researchvolume, 1999, 14 (5) :740-746. [9] [9]RAHELEH DABIRNIA, SANAZ MAHMAZI, et al.The relationship between vitamin D receptor polymorphism and the occurrence of osteoporosis in menopausal Iranian women[J].Clinical Cases in Mineral and Bone Metabolism, 2016, 13 (3) :190-194. [10] [10]DEHGHAN M, POURAHMAD-JAKTAJI R.The effect of some polymorphisms in vitamin D receptor gene in menopausal women with osteoporosis[J].J Clin Diagn Res, 2016, 10 (6) :RC06-10. [11] [11]WANG L Y, ZHANG P, WANG H F, et al.Association of vitamin D receptor gene polymorphisms with end-stage renal disease and the development of high-turnover renal osteodystrophy in a Chinese population[J].Genet Mol Res, 2016, 15 (2) . [12] [12]YANG C, LI J, LI Y, et al.Receptor gene apa I polymorphism is associated with increased risk of renal cell carcinoma in chinese population[J].Sci Rep, 2016, 13 (6) :25987. [13] [13]SHIMIZU C, FUJITA T, FUKE Y, et al.Effects of cyclosporine on bone mineral density in patients with glucocorticoid-dependentnephrotic syndrome in remission[J].Int Urol Nephrol, 2013, 45 (3) :803-808. [14] [14]TAKEI T, ITABASHI M, TSUKADA M.Risedronate therapy for the prevention of steroid-induced osteoporosis in patients with minimal-change nephrotic syndrome[J].Intern Med, 2010, 49 (19) :2065-2070. [15] [15]EGUCHI A, TAKEI T, YOSHIDA T, et al.Combined cyclosporine and prednisolone therapy in adult patients with the first relapse of minimal-change nephrotic syndrome[J].Nephrol Dial Transplant, 2010, 25 (1) :124-129. [16] [16]TSUGAWA K, TANAKA H, NAKAHATA T, et al.Effective therapy of a child case of refractory nephrotic syndrome with tacrolimus[J].Tohoku J Exp Med, 2004, 204 (3) :237-241. [17] [17]NAGATOYA K.A case of nephrotic syndrome achieving remission with cyclosporinemonotherapy[J].Nihon Ronen Igakkai Zasshi, 2010, 47 (5) :468-473. [18] [18]HAYASHI M, KIMURA N, FUKATSU A.Combined effect of cyclosporin and prednisolone for minimal change nephrotic syndrome:comparison with prednisolone therapy[J].Nihon Jinzo Gakkai Shi, 2008, 50 (5) :581-587. [19] [19]WANG L Y, ZHANG P, WANG H F, et al.Association of vitamin D receptor gene polymorphisms with end-stage renal disease and the development of high-turnover renal osteodystrophy in a Chinese population[J].Genet Mol Res, 2016, 15 (2) . [20] [20]YANG C, LI J, LI Y, et al.The vitamin D receptor gene apa I polymorphism is associated with increased risk of renal cell carcinoma in chinese population[J].Sci Rep, 2016, 13 (6) :25987. [21] [21]HABUCHI T, SUZUKI T, SASSAKI R, et al.Assosiation ofvitamin D receptor gene polymorphism with prostatecancer and benign prostatic hyperplasia in japanesepopulation[J].Cancer Res, 2000, 60 (6) :305-308. [22] [22]EDA ZAYDIN, DIDEM DAYANGAC-ERDEN, HAYAT ERDEM-YURTER.Orhan derman and turgay co kun, the relationship between vitamin D receptor gene polymorphisms and bone density, osteocalcin leveland growth in adolescents[J].Journal of Pediatric Endocrinology&Metabolism, 2010, 23 (5) :491-496. [23] [23]MANAR FAYIZ ATOUM, YASMEEN MOHAMMAD ALKHATIB, Association between serum 25hydroxy vitamin dconcentration and taq I vitamin D receptor gene polymorphism among jordanian females with breast cancer[J].Chinese Medical Journal May, 2017, 130 (9) :1074-1078. [24] [24]DABIRNIA R, MAHMAZI S, TAROMCHI A, et al.The relationship between vitamin D receptor (VDR) polymorphism and the occurrence of osteoporosis in menopausal Iranian women[J].Clin Cases Miner Bone Metab, 2016, 13 (3) :190-194.
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