Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density

The Journal of Clinical Endocrinology and Metabolism
B Y ReedCharles Y C Pak

Abstract

Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. Previously, we mapped the locus for an inherited form of AH to chromosome 1q23.3-q24. We have sequenced a putative gene (subsequently shown by others to be homologous with the rat soluble adenylate cyclase gene) in this region in 12 unrelated Caucasian AH patients. Eighteen base substitutions were identified in the soluble adenylate cyclase human homolog gene. All sequence variations were further evaluated in 3-68 additional unrelated AH patients and 19-132 normal subjects, and 1 additional base substitution was identified. Six of the identified sequence variations occurred with increased frequency in the AH population and tracked with the AH phenotype in AH families. Calculated odds ratios showed that the occurrence of any 4 of these individual base substitutions was associated with a 2.2- to 3.5-fold increase in estimated risk for AH (P < 0.02). In addition, 1 or more base changes was associated with a lower L2-L4 vertebral bone density. Sequence analysis of 3 other genes within the AH linkage interval showed no difference in the distribution of sequence variations between AH and normal populations. This is the first descri...Continue Reading

References

Mar 6, 1975·The New England Journal of Medicine·C Y PakO Waters
May 1, 1979·Psychological Medicine·J D Stephenson
Feb 15, 1979·The New England Journal of Medicine·F L CoeE S Moore
Jan 1, 1992·Trends in Biotechnology·R J MuralE C Uberbacher
Dec 1, 1992·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·F PietschmannC Y Pak
Jan 1, 1985·Calcified Tissue International·D KurtzJ Shapiro
Aug 1, 1974·The Journal of Clinical Investigation·C Y PakW Snyder
Dec 1, 1981·The Journal of Urology·C Y PakM J Harrod
Aug 1, 1994·Journal of Pediatric Gastroenterology and Nutrition·S A Abrams
Dec 10, 1998·Nucleic Acids Research·A BatemanE L Sonnhammer
Jan 6, 1999·Proceedings of the National Academy of Sciences of the United States of America·J BuckL R Levin
Aug 2, 2001·Human Genetics·J T den Dunnen, S E Antonarakis

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Citations

Dec 19, 2008·Calcified Tissue International·Shoji IchikawaMichael J Econs
Jun 12, 2009·Urological Research·Saeed R Khan, Benjamin K Canales
May 1, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michael J StechmanRajesh V Thakker
Dec 21, 2011·Nature Reviews. Nephrology·Carla G Monico, Dawn S Milliner
Apr 22, 2006·The Journal of Biological Chemistry·Alexander M StessinLonny R Levin
Jul 29, 2004·Journal of Clinical Pathology·D G Griffin
Oct 4, 2005·The Journal of Clinical Investigation·Fredric L CoeElaine Worcester
Aug 15, 2014·Calcified Tissue International·Ping-Song ChouWei-Pin Chang
Mar 4, 2011·Indian Journal of Urology : IJU : Journal of the Urological Society of India·Ajay P Sharma, Guido Filler
Apr 28, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hemant Kumar BidRama Devi Mittal
Sep 1, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Mary Ann CameronOrson W Moe
Apr 28, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Tarak Srivastava, Uri S Alon
Nov 4, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Joseph E Zerwekh
Jun 22, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Massimo Attanasio
Jan 10, 2012·Clinical Reviews in Bone and Mineral Metabolism·Vishal N Ratkalkar, Jack G Kleinman
Aug 7, 2007·The Urologic Clinics of North America·Sangtae Park, Margaret S Pearle
Jul 19, 2006·Human Genetics·Ching-Lung CheungAnnie W C Kung
Oct 12, 2012·Current Osteoporosis Reports·Laura E Ryan, Steven W Ing
Oct 14, 2005·Kidney International·Charles Y C PakLinda J Brinkley
Apr 15, 2011·Kidney International·Martin TresguerresJochen Buck
Aug 10, 2007·Kidney International·O Devuyst, Y Pirson
Dec 3, 2010·Kidney International·Khashayar SakhaeeOrson W Moe
Mar 25, 2008·Seminars in Nephrology·Elaine M Worcester, Fredric L Coe
Mar 25, 2008·Seminars in Nephrology·Joseph E Zerwekh
Jun 24, 2004·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Jason SheyOrson W Moe
Apr 25, 2007·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Wesley G BeamerClifford J Rosen
Aug 6, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Wesley G BeamerLeah Rae Donahue
Feb 10, 2004·The Journal of Urology·Charles Y C PakHoward J Heller
Dec 12, 2002·Endocrinology and Metabolism Clinics of North America·Joseph E ZerwekhCharles Y C Pak
Jul 18, 2003·The American Journal of Medicine·Charles Y C PakMargaret S Pearle
Jan 20, 2004·American Journal of Human Genetics·Michael J EconsTatiana M Foroud
Feb 6, 2003·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Kathryn L ShultzWesley G Beamer
Jun 13, 2016·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·P LucatoN Veronese
Mar 30, 2013·São Paulo Medical Journal = Revista Paulista De Medicina·Miguel Angel Arrabal-PoloJuan Garrido-Gomez
Feb 5, 2005·Anais Da Academia Brasileira De Ciências·Maria Alice P RebeloMarcelo M Morales
May 16, 2003·Pflügers Archiv : European journal of physiology·Tom NijenhuisRené J M Bindels
May 22, 2018·Current Opinion in Nephrology and Hypertension·Allein Plain, R Todd Alexander

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