目的：探讨维生素D受体（VDR）基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性，阐明分子遗传学规律。方法：维吾尔族尿路结石患儿（病例组）74例和维吾尔族正常儿童（对照组）103例纳入此研究，应用聚合酶链反应-限制性片段长度多态性分析研究VDR基因FokI和ApaI位点多态性与新疆南部地区维吾尔族儿童尿路结石相关性。结果：VDR基因FokI位点FF、Ff、ff 3种基因型在病例组及对照组之间分布差异有统计学意义（χ2=7.818, P＜0.05），基因型Ff在病例组占58%，明显高于对照组，差异有统计学意义（P＜0.05）。VDR基因ApaI位点AA、Aa、aa 3种基因型在病例组和对照组的分布差异无统计学差意义（P>0.05）。结论：VDR基因FokI位点多态性将来可作为维吾尔族儿童泌尿系结石的候选基因。
Abstract
OBJECTIVE: To investigate the association of vitamin D receptor (VDR) gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China, and to clarify the molecular genetic mechanism for the disease. METHODS: Seventy-four Uygur children with urolithiasis (case group) and 103 healthy Uyghur children (control group) were enrolled as subjects. Polymerase chain reaction-restriction fragment length polymorphism was used to analyze the association of VDR gene FokI and ApaI polymorphisms with urolithiasis in Uyghur children from southern Xinjiang. RESULTS: There were significant differences in FokI genotypes (FF, Ff and ff) between the case and control groups (χ2=7.818, P<0.05). The genotype Ff accounted for 58% of all genotypes in the case group, and Ff was significantly more prevalent in the case group than in the control group (P<0.05). There were no significant differences in ApaI genotypes (AA, Aa, and aa) between the case and control groups. CONCLUSIONS: The polymorphisms of VDR gene FokI may be a suitable genetic marker for urolithiasis in Uyghur children.
关键词
尿路结石 /
VDR基因 /
等位基因多态性 /
维吾尔族 /
儿童
Key words
Urolithiasis /
VDR gene /
Polymorphism /
Uyghur /
Child
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
［1］Worcester EM, Coe FL. Clinical practice. Calcium kidney stones［J］. N Engl J Med, 2010, 363(10): 954-963.
［2］Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases［J］. Clin Chim Acta, 2006, 371(1-2): 1-12.
［3］Ozkaya O, Soylemezoglu O, Misirlioglu M, Gonen S, Buyan N, Hasanoglu E. Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children［J］. Eur Urol, 2003, 44(1): 150-154.
［4］Bushinsky DA, Frick KK, Nehrke K. Genetic hypercalciuric stone-forming rats［J］. Curr Opin Nephrol Hypertens, 2006, 15(4): 403-418.
［5］Karnauskas AJ, van Leeuwen JP, van den Bemd GJ, Kathpalia PP, DeLuca HF, Bushinsky DA, et al. Mechanism and function of high vitamin D receptor levels in genetic hypercalciuric stone-forming rats［J］. J Bone Mineral Res, 2005, 20(3): 447-454.
［6］Mossetti G, Vuotto P, Rendina D, Numis FG, Viceconti R, Giordano F, et al. Association between vitamin D receptor gene polymorphisms and tubular citrate handling in calcium nephrolithiasis［J］. Intern Med, 2003, 253(2): 194-200.
［7］Mossetti G, Rendina D, Viceconti R, Manno G, Guadagno V, Strazzullo P, et al. The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis［J］. Nephrol Dial Transplant, 2004,19(9): 2259-2265.
［8］Lin Y, Mao Q, Zheng X, Chen H, Yang K, Xie L, et al. Vitamin D receptor genetic polymorphisms and the risk of urolithiasis: a meta-analysis［J］. Urol Int, 2011, 86(3): 249-255.
［9］木拉提·马合木提, 阿里木·太来提, 安尼瓦尔·牙生. 儿童尿路结石286例临床分析［J］. 临床泌尿外科杂志, 2007, 22(4): 280-282.
［10］魏恩.泌尿系结石的评估和治疗［M］//郭应禄，周利群（译）.坎贝尔泌尿外科学.第九版.北京：北京大学医学出版社，2009:1479-1487.
［11］Bid HK, Mishra DK, Mittal RD. Vitamin-D receptor (VDR) gene (Fok-I, Taq-I and Apa-I) polymorphisms in healthy individuals from north indian population［J］. Asian Pacific J Cancer Prev, 2005, 6(2): 147-152.
［12］Bid HK, Chaudhary H, Mittal RD. Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis［J］. Pediatr Nephrol, 2005, 20(6): 773-776.
［13］Chen WC, Chen HY, Lu HF, Hsu CD, Tsai FJ. Association of the vitamin D receptor gene start codon FokI polymorphism with calcium oxalate stone disease［J］. BJU Int, 2001, 87(3): 168-171.
［14］Wang S, Wang X, Wu J, Lin Y, Chen H, Zheng X, et al. Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population［J］. Urol Res, 2012, 40(4): 277-284.
［15］Bid HK, Kumar A, Kapoor R, Mittal RD. Association of vitamin D receptor-gene (FokI) polymorphism with calcium oxalate nephrolithiasis［J］. J Endourol, 2005, 19(1): 111-115.
［16］Gunes S, Bilen CY, Kara N, Asci R, Bagci H, Yilmaz AF. Vitamin D receptor gene polymorphisms in patients with urolithiasis［J］. Urol Res, 2006, 34(1): 47-52.
PDF(1149 KB)
