Volume 44 Issue 5
May  2023
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Ji LI, Kunbin KE, Baiyu ZHANG, Yidao LIU, Jing BAI, Tao DONG, Zhencheng WANG, Deqiang QIN, Mengyue WANG, Hao LI. Association of Single Nucleotide Polymorphisms of Calcium Sensitive Receptor Gene with Calcium Nephrolithiasis and Hypercalciuria in Chinese Dai Population[J]. Journal of Kunming Medical University, 2023, 44(5): 72-80. doi: 10.12259/j.issn.2095-610X.S20230520
Citation: Ji LI, Kunbin KE, Baiyu ZHANG, Yidao LIU, Jing BAI, Tao DONG, Zhencheng WANG, Deqiang QIN, Mengyue WANG, Hao LI. Association of Single Nucleotide Polymorphisms of Calcium Sensitive Receptor Gene with Calcium Nephrolithiasis and Hypercalciuria in Chinese Dai Population[J]. Journal of Kunming Medical University, 2023, 44(5): 72-80. doi: 10.12259/j.issn.2095-610X.S20230520

Association of Single Nucleotide Polymorphisms of Calcium Sensitive Receptor Gene with Calcium Nephrolithiasis and Hypercalciuria in Chinese Dai Population

doi: 10.12259/j.issn.2095-610X.S20230520
  • Received Date: 2023-01-05
    Available Online: 2023-05-13
  • Publish Date: 2023-05-25
  •   Objective   To study the association of CaSR gene polymorphism with calcium nephrolithiasis and hypercalciuria in Chinese Dai population.   Methods   The Dai patients with calcium containing renal calculi in Dehong Prefecture, Yunnan Province, China were selected as the experimental group, and the healthy Dai people in Dehong Prefecture, Yunnan Province were taken as the control group. The venous blood was drawn for the determination of the three SNP loci rs7652589, rs1801725, and rs1042636 of the CaSR gene. The subjects in the stone group were tested for 24-hour urine calcium value, and the gene correlation was analyzed.   Results   There was a statistical difference between the homozygous AA gene and AA+GG gene at rs7652589 locus in the occurrence of calcium nephrolithiasis (P < 0.05). The 24 h urine calcium value of the GG genotype with rs1042636 locus was significantly different from that of the AA based and AG genotype (P < 0.05). There was a significant difference in 24 h urine calcium between those with GG genotype at rs7652589 locus and those with AA and AG genotype (P < 0.05)   Conclusion  The rs7652589 polymorphism on the CaSR gene in the Dai population in China is related to the occurrence of calcium nephrolithiasis and hypercalciuria. The GG gene at rs1042636 is related to the occurrence of hypercalciuria in the Dai population. The GG gene at rs7652589 may be a candidate gene for the occurrence of hypercalciuria leading to calcium nephrolithiasis in this ethnic group.
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  • [1]
    Sorokin I,Mamoulakis C,Miyazawa K,et al. Epidemiology of stone disease across the world[J]. World J Urol,2017,35(9):1301-1320. doi: 10.1007/s00345-017-2008-6
    [2]
    Khan A. Prevalence,pathophysiological mechanisms and factors affecting urolithiasis[J]. Int Urol Nephrol,2018,50(5):799-806. doi: 10.1007/s11255-018-1849-2
    [3]
    Bishop K,Momah T,Ricks J. Nephrolithiasis[J]. Prim Care,2020,47(4):661-671. doi: 10.1016/j.pop.2020.08.005
    [4]
    Vladimirovna F T,Faridovich K C,Igorevich R V,et al. Genetic factors of polygenic urolithiasis[J]. Urologia,2020,87(2):57-64. doi: 10.1177/0391560319898375
    [5]
    Youssef R F,Martin J W,Sl K,et al. Rising occurrence of hypocitraturia and hyperoxaluria associated with increasing prevalence of stone disease in calcium kidney stone formers[J]. Scand J Urol,2020,54(5):426-430. doi: 10.1080/21681805.2020.1794955
    [6]
    Negri A L,Delvalle E E,et al. Role of claudins in idiopathic hypercalciuria and renal lithiasis[J]. Int Urol Nephrol,2022,54(9):2197-2204. doi: 10.1007/s11255-022-03119-2
    [7]
    Shin S,Ibeh C L,Awuah B E,et al. Hypercalciuria switches Ca(2+) signaling in proximal tubular cells,induces oxidative damage to promote calcium nephrolithiasis[J]. Genes Dis,2022,9(2):531-548. doi: 10.1016/j.gendis.2021.04.006
    [8]
    Mohammadi A,Shabestari A N,Baghdadabad L Z,et al. Genetic polymorphisms and kidney stones around the globe: A systematic review and meta-analysis[J]. Front Genet,2022,13(4):908-913.
    [9]
    Halbritter J. Genetics of kidney stone disease-polygenic meets monogenic[J]. Nephrol Ther,2021,17S(2):S88-S94.
    [10]
    Litvinova M M,Khafizov K,Korchagin V I,et al. Association of CASR,CALCR,and ORAI1 genes polymorphisms with the calcium urolithiasis development in Russian population[J]. Front Genet,2021,12(10):621-629.
    [11]
    Vezzoli G,Macrina L,Magni G,et al. Calcium-sensing receptor: Evidence and hypothesis for its role in nephrolithiasis[J]. Urolithiasis,2019,47(1):23-33. doi: 10.1007/s00240-018-1096-0
    [12]
    Li H,Zhang J,Long J,et al. Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China[J]. Ann Hum Genet,2018,82(5):265-271. doi: 10.1111/ahg.12249
    [13]
    Ding Q,Fan B,Shi Y,et al. Calcium-sensing receptor genetic polymorphisms and risk of developing nephrolithiasis in a Chinese population[J]. Urol Int,2017,99(3):331-337. doi: 10.1159/000451006
    [14]
    Veser J,Jahrreiss V,Seitz C. Innovations in urolithiasis management[J]. Curr Opin Urol,2021,31(2):130-134. doi: 10.1097/MOU.0000000000000850
    [15]
    Mayans L. Nephrolithiasis[J]. Prim Care,2019,46(2):203-212. doi: 10.1016/j.pop.2019.02.001
    [16]
    Alexander R T,Fuster D G,Dimke H,et al. Mechanisms underlying calcium nephrolithiasis[J]. Annual Review of Physiology,2022,84(1):559-583. doi: 10.1146/annurev-physiol-052521-121822
    [17]
    Liu Y,Chen Y,Liao B,et al. Epidemiology of urolithiasis in Asia[J]. Asian J Urol,2018,5(4):205-214. doi: 10.1016/j.ajur.2018.08.007
    [18]
    李康健, 莫茵, 申吉泓, 等. 维生素D受体基因SNP位点rs7975232和rs731236与云南彝族人群特发性低枸橼酸尿症的关系[J] , 广东医学, 2016, 37(17): 2580-2584.
    [19]
    Li K,Luo Y,Mo Y,et al. Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population[J]. Urolithiasis,2019,47(3):235-242. doi: 10.1007/s00240-018-1069-3
    [20]
    Sangkaew B,Nuinoon M,Jeenduang N. Association of vitamin D receptor gene polymorphisms with serum 25(OH)D levels and metabolic syndrome in Thai population[J]. Gene,2018,659(3):59-66.
    [21]
    Howles S A,Thakker R V. Genetics of kidney stone disease[J]. Nat Rev Urol,2020,17(7):407-421. doi: 10.1038/s41585-020-0332-x
    [22]
    Mandal A,Khandelwal P,Geetha T S,et al. Metabolic and genetic evaluation in children with nephrolithiasis[J]. Indian J Pediatr,2022,98(22):34-42.
    [23]
    Hemminki K,Hemminki O,Forsti A,et al. Familial risks between urolithiasis and cancer[J]. Sci Rep,2018,8(1):3083. doi: 10.1038/s41598-018-21410-0
    [24]
    Goldfarb D S,Avery A R,Beara-lasic L,et al. A twin study of genetic influences on nephrolithiasis in women and men[J]. Kidney Int Rep,2019,4(4):535-540. doi: 10.1016/j.ekir.2018.11.017
    [25]
    Tsuji T,Hiroyuki A,Uraki S,et al. Autosomal dominant hypocalcemia with atypical urine findings accompanied by novel CaSR gene mutation and VitD deficiency[J]. J Endocr Soc,2021,5(3):190-195. doi: 10.1210/jendso/bvaa190
    [26]
    Hannan F M,Kallay E,Chang W,et al. The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases[J]. Nat Rev Endocrinol,2018,15(1):33-51.
    [27]
    Chavez-abiega S,Mos I,Centeno P P,et al. Sensing extracellular calcium - An insight into the structure and function of the calcium-sensing receptor (CaSR)[J]. Adv Exp Med Biol,2020,11(31):1031-1063.
    [28]
    Ewers M,Canaff L,Weh A E,et al. The three common polymorphisms p. A986S,p. R990G and p. Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis[J]. Pancreatology,2021,21(7):1299-1304. doi: 10.1016/j.pan.2021.08.008
    [29]
    Guo S,Chi A W,Wang H,et al. Vitamin D receptor (VDR) contributes to the development of hypercalciuria by sensitizing VDR target genes to vitamin D in a genetic hypercalciuric stone-forming (GHS) rat model[J]. Genes Dis,2022,9(3):797-806. doi: 10.1016/j.gendis.2020.09.001
    [30]
    Vahe C,Benomar K,Espiard S,et al. Diseases associated with calcium-sensing receptor[J]. Orphanet J Rare Dis,2017,12(1):19. doi: 10.1186/s13023-017-0570-z
    [31]
    Guha M,Bankura B,Ghosh S,et al. Polymorphisms in CaSR and CLDN14 genes associated with increased risk of kidney stone disease in patients from the eastern part of India[J]. PLoS One,2015,10(6):130-139.
    [32]
    Ali F T,El-azeem E M A,Hekal H F A,et al. Association of TRPV5,CASR,and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions[J]. Urolithiasis,2022,50(6):701-710. doi: 10.1007/s00240-022-01360-z
    [33]
    Grzegorzewska A E,Paciorkowski M,Mostowska A,et al. Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients[J]. Sci Rep,2016,6:351-388.
    [34]
    Taguchi K,Yasui T,Milliner D S,et al. Genetic risk factors for idiopathic urolithiasis: A systematic review of the literature and causal network analysis[J]. Eur Urol Focus,2017,3(1):72-81. doi: 10.1016/j.euf.2017.04.010
    [35]
    Zhou H,Huang H,You Z,et al. Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population[J]. Medicine (Baltimore),2018,97(45):130-137.
    [36]
    Gillion V,Devuyst O. Genetic variation in claudin-2,hypercalciuria,and kidney stones[J]. Kidney Int,2020,98(5):1076-1078. doi: 10.1016/j.kint.2020.05.055
    [37]
    Ferre N,Parada E,Balaguer A,et al. Pharmacological interventions for preventing complications in patients with idiopathic hypercalciuria: A systematic review[J]. Nefrologia (Engl Ed),2021,92(5):1007-1016.
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