Association of vitamin D receptor gene polymorphisms with calcium oxalate calculus disease

Abstract

To study the relationship between polymorphism of vitamin D receptor (VDR) allele with formation of calcium oxalate calculus and find the predisposing genes of calcium oxalate calculus, we screened out 150 patients who suffered from calcium oxalate calculus. 36 of them had idiopathic hypercalciuria according to analysis of calculus component and assay of urine calcium. The polymorphisms of VDR gene Taq1, Apa1 and Fok1 were detected using PCR-RFLP technique and the correlation were analyzed between the polymorphism and urinary calculus or between the polymorphism and hypercalciuria. The difference in each genotypic frequency of the allele of promoter Fok1 between calculus group and healthy group or between idiopathic hypercalciuria calculus group and health group was significant. The content of 24-h urine calcium of those who had genotype ff was obviously higher than that of those who have other genotypes in the same group. There was no significant difference in the polymorphism of gene Apa1 and Taq1 between each two groups. It is concluded that hypercalciuria and calcium oxalate calculus were related to the polymorphism of VDR gene’s promoter Fok1 allele, but it had nothing to do with the polymorphism of gene Apa1 and Taq1. The genotype ff was a candidate heredity marker of calcium calculus disease.

Keywords

gene polymorphism / vitamin D receptor / calcium oxalate calculus / hypercalciuria

References

[1] GsurA, MadersbacherS, HaidingerG, et al.. Vitamin D receptor gene polymorphism and prostate cancer risk. Prostate, 2002, 51(1): 30-30

[2] HuangC M, WuM C, WuJ Y, et al.. Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus. Lupus, 2002, 11(1): 31-31

[3] PetersU, McGlynnK A, ChatterjeeN, et al.. Vitamin D, calcium, and vitamin D receptor polymorphism in colorectal adenomas. Cancer Epidemiol Biomarkers Prev, 2001, 10(12): 1267-1267

[4] YokoyamaK, ShigematsuT, KagamiS, et al.. Vitamin D receptor gene polymorphism detected by digestion with Apa I influences the parathyroid response to extracellular calcium in Japanese chronic dialysis patients. Nephron, 2001, 89(3): 315-315

[5] KitagawaI, KitagawaY, NagayaT, et al.. Interplay of physical activity and vitamin D receptor gene polymorphism on bone mineral density. J Epidemiol, 2001, 11(5): 229-229

[6] WilkinsonR J, LlewelynM, ToossiZ, et al.. Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in west London: a case-control study. Lancet, 2000, 355(9204): 618-618

[7] CurranJ E, VaughanT, LeaR A, et al.. Association of A vitamin D receptor polymorphism with sporadic breast cancer development. Int J Cancer, 1999, 83(6): 723-723

[8] AmesS K, EllisK J, GunnS K, et al.. Vitamin D receptor gene Fok1 polymorphism predicts calcium absorption and bone mineral density in children. J Bone Miner Res, 1999, 14(5): 740-740

[9] HeilbergI P, TeixeiraS H, MartiniL A, et al.. Vitamin D receptor gene polymorphism and bone mineral density in hypercalciuric calcium-stone-forming patients. Nephron, 2002, 90(1): 51-51

[10] ChenW C, ChenH Y, HsuC D, et al.. No association of vitamin D receptor gene BsmI polymorphisms with calcium oxalate stone formation. Mol Urol, 2001, 5(1): 7-7

[11] RuggieroM, PaciniS, AmatoM, et al.. Association between vitamin D receptor gene polymorphism and nephrolithiasis. Miner Electrolyte Metab, 1999, 25(3): 185-185

[12] JackmanS V, KibelA S, OvuworieC A, et al.. Familial calcium stone disease: TaqI polymorphism and the vitamin D receptor. J Endourol, 1999, 13(4): 313-313

[13] ChenW C, ChenH Y, LuH F, et al.. Association of the vitamin D receptor gene start codon Fok1 polymorphism with calcium oxalate stone disease. BJU Int, 2001, 87(3): 168-168

[14] InglesS A, WangJ, CoetzeeG A, et al.. Vitamin D receptor polymorphisms and risk of colorectal adenomas (United States). Cancer Causes Control, 2001, 12(7): 607-607

[15] LimK S, KimE K, ChoiY M, et al.. Association of vitamin D receptor and estrogen receptor gene polymorphisms with bone mass in postmenopausal Korean women. Menopause, 2001, 8(3): 222-222

[16] ChoiY M, JunJ K, ChoeJ, et al.. Association of the vitamin D receptor start codon polymorphism (Fok1) with bone mineral density in postmenopausal Korean women. J Hum Genet, 2000, 45(5): 280-280

[17] ChiuK C, ChuangL M, YoonC. The vitamin D receptor polymorphism in the translation initiation codon is a risk factor for insulin resistance in glucose tolerant Caucasians. BMC Med Genet, 2001, 2(1): 2-2