KLOTHO gene polymorphism of G395A is associated with kidney stones

American Journal of Nephrology

Volumn 33, Issue 4, 2011, Pages 337-343

  Telci, Dilek ^a   Dogan, Ali Umman ^a   Ozbek, Emin ^b   Polat, Emre Can ^c   Simsek, Abdulmuttalip ^c   Cakir, Suleyman Sami ^b   Yeloglu, Hakki Okan ^d   Sahin, Fikrettin ^a  

^a YEDITEPE UNIVERSITY   (Turkey)

^b Istanbul Okmeydani Training and Research Hospital   (Turkey)

^c BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^d BASKENT UNIVERSITY   (Turkey)

Author keywords

C1818T; F252V; G395A; Kidney stone; KLOTHO

Indexed keywords

KLOTHO PROTEIN;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; HYPOPHOSPHATEMIA; MAJOR CLINICAL STUDY; MALE; NEPHROLITHIASIS; PHOSPHATURIA; PRIORITY JOURNAL; PROMOTER REGION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALLELES; CALCIUM; EXONS; FEMALE; GENOTYPE; GLUCURONIDASE; HUMANS; KIDNEY CALCULI; MALE; MIDDLE AGED; PHOSPHATES; POLYMORPHISM, GENETIC; RISK; RISK FACTORS;

EID: 79952719170     PISSN: 02508095     EISSN: None     Source Type: Journal    
DOI: 10.1159/000325505     Document Type: Article

References (25)

1. Pak CY: Kidney stones. Lancet 1998; 351: 1797-1801.
2. Prie D, Ravery V, Boccon-Gibod L, Friedlander G: Frequency of renal phosphate leak among patients with calcium nephrolithiasis. Kidney Int 2001; 60: 272-276.
3. Worcester EM, Coe FL: New insights into the pathogenesis of idiopathic hypercalciuria. Semin Nephrol 2008; 28: 120-132.
4. Fleet JC, Eksir F, Hance KW, Wood RJ: Vitamin D-inducible calcium transport and gene expression in three Caco-2 cell lines. Am J Physiol Gastrointest Liver Physiol 2002; 283:G618-G625.
5. 3 in the intestine and kidney of mice. Endocrinology 2003; 144: 3885-3894.
6. Taylor JG, Bushinsky DA: Calcium and phosphorus homeostasis. Blood Purif 2009; 27: 387-394.
7. 3 . Biochem J 1999; 343: 705-712.
8. Razzaque MS, Lanske B: The emerging role of the fibroblast growth factor-23-Klotho axis in renal regulation of phosphate homeostasis. J Endocrinol 2007; 194: 1-10.
9. Matsumura Y, Aizawa H, Shiraki-Iida T, Nagai R, Kuro-o M, Nabeshima Y: Identification of the human Klotho gene and its two transcripts encoding membrane and secreted Klotho protein. Biochem Biophys Res Commun 1998; 242: 626-630.
10. Chen CD, Podvin S, Gillespie E, Leeman SE, Abraham CR: Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17. Proc Natl Acad Sci USA 2007; 104: 19796-19801.
11. Chang Q, Hoefs S, van der Kemp AW, Topala CN, Bindels RJ, Hoenderop JG: Theβ - glucuronidase Klotho hydrolyzes and activates the TRPV5 channel. Science 2005; 310: 490-493.
12. Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt KP, Baum MG, Schiavi S, Hu MC, Moe OW, Kuro-o M: Regulation of fibroblast growth factor-23 signaling by Klotho. J Biol Chem 2006; 281: 6120-6123.
13. Hu MC, Shi M, Zhang J, Pastor J, Nakatani T, Lanske B, Shawkat Razzaque M, Rosenblatt KP, Baum MG, Kuro OM, Moe OW: Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule. FASEB J 2010; 24: 3438-3450.
14. Kuro-o M, Matsumura Y, Aizawa H, Kawaguchi H, Suga T, Utsugi T, Ohyama Y, Kurabayashi M, Kaname T, Kume E, Iwasaki H, Iida A, Shiraki-Iida T, Nishikawa S, Nagai R, Nabeshima YI: Mutation of the mouse Klotho gene leads to a syndrome resembling ageing. Nature 1997; 390: 45-51.
15. Kuro-o M: Klotho and aging. Biochim Biophys Acta 2009; 1790: 1049-1058.
16. Riancho JA, Valero C, Hernandez JL, Ortiz F, Zarrabeitia A, Alonso MA, Pena N, Pascual MA, Gonzalez-Macias J, Zarrabeitia MT: Association of the F352V variant of the Klotho gene with bone mineral density. Biogerontology 2007; 8: 121-127.
17. Shimoyama Y, Nishio K, Hamajima N, Niwa T: Klotho gene polymorphisms G395A and C1818T are associated with lipid and glucose metabolism, bone mineral density and systolic blood pressure in Japanese healthy subjects. Clin Chim Acta 2009; 406: 134-138.
18. Yamada Y, Ando F, Niino N, Shimokata H: Association of polymorphisms of the androgen receptor and Klotho genes with bone mineral density in Japanese women. J Mol Med 2005; 83: 50-57.
19. Pietschmann F, Breslau NA, Pak CY: Reduced vertebral bone density in hypercalciuric nephrolithiasis. J Bone Miner Res 1992; 7: 1383-1388.
20. Caudarella R, Vescini F, Buffa A, Sinicropi G, Rizzoli E, La Manna G, Stefoni S: Bone mass loss in calcium stone disease: focus on hypercalciuria and metabolic factors. J Nephrol 2003; 16: 260-266.
21. Huang CL: Regulation of ion channels by secreted Klotho: mechanisms and implications. Kidney Int 2010; 77: 855-860.
22. Low AF, O'Donnell CJ, Kathiresan S, Everett B, Chae CU, Shaw SY, Ellinor P, MacRae CA: Aging syndrome genes and premature coronary artery disease. BMC Med Genet 2005; 6: 38.
23. Kawano K, Ogata N, Chiano M, Molloy H, Kleyn P, Spector TD, Uchida M, Hosoi T, Suzuki T, Orimo H, Inoue S, Nabeshima Y, Nakamura K, Kuro-o M, Kawaguchi H: Klotho gene polymorphisms associated with bone density of aged postmenopausal women. J Bone Miner Res 2002; 17: 1744-1751.
24. Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC: Association of human aging with a functional variant of Klotho. Proc Natl Acad Sci USA 2002; 99: 856-861.
25. 2+ channels TRPV5 and TRPV6. Nephrol Dial Transplant 2008; 23: 3397-3402.