A genome-wide scan for genes involved in primary vesicoureteric reflux

Journal of Medical Genetics

Volumn 44, Issue 11, 2007, Pages 710-717

  Kelly, H ^b   Molony, C M ^c   Darlow, J M ^a   Pirker, M E ^a   Yoneda, A ^a,d   Green, A J ^b   Puri, P ^a   Barton, David E ^a,b  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c ROSETTA INPHARMATICS   (United States)

^d OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 10Q; CHROMOSOME 2Q; CHROMOSOME 6Q; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENETIC HETEROGENEITY; GENOME ANALYSIS; HUMAN; IRELAND; KIDNEY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; NONPARAMETRIC TEST; PRIORITY JOURNAL; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; VESICOURETERAL REFLUX;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; HUMANS; IRELAND; LOD SCORE; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; VESICO-URETERAL REFLUX;

EID: 36349035064     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.051086     Document Type: Article

References (68)

1. Eccles MR, Jacobs GH. The genetics of primary vesico-ureteric reflux. Ann Acad Med Singapore 2000;29h:337-45.
2. Eccles MR, Bailey RR, Abbott GD, Sullivan MJ. Unravelling the genetics of vesicoureteric reflux: a common familial disorder. Hum Mol Genet 1996;5:1425-9.
3. Devriendt K, Groenen P, Van Esch H, van Dijck M, Van de Ven W, Fryns JP, Proesmans W. Vesico-ureteral reflux: a genetic condition? Eur J Pediatr 1998;157:265-71.
4. Chertin B, Puri P. Familial vesicoureteral reflux. J Urol 2003;169:1804-8.
5. Krzemien G, Roszkowska-Blaim M, Kostro I, Szmigielska A, Madzik J. (Vesicoureteral reflux in children with prenatal suspicion of urinary tract abnormalities). Przegl Lek 2006;63(Suppl):127-30.
6. Siomou E, Papadopoulou F, Kollios KD, Photopoulos A, Evagelidou E, Androulakakis P, Siamopoulou A. Duplex collecting system diagnosed during the first 6 years of life after a first urinary tract infection: a study of 63 children. J Urol, 2006;175:678-81; discussion 81-2..
7. Seseke F, Strauss A, Seseke S, Zappel H, Ringert RH, Zoller G. (Long-term experience with Cohen ureteral reimplantation in bilateral vesicoureteral reflux in childhood). Urologe A 2006;45:852-7.
8. Ichikawa I, Kuwayama F, Pope JCt, Stephens FD, Miyazaki Y. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int 2002;61:889-98.
9. Murawski IJ, Gupta IR. Vesicoureteric reflux and renal malformations: a developmental problem. Clin Genet 2006;69:105-17.
10. Hu P, Deng FM, Liang FX, Hu CM, Auerbach AB, Shapiro E, Wu XR, Kachar B, Sun TT. Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. J Cell Biol 2000;151:961-72.
11. Kelly H, Ennis S, Yoneda A, Bermingham C, Shields DC, Molony C, Green AJ, Puri P, Barton DE. Uroplakin III is not a major candidate gene for primary vesicoureteral reflux. Eur J Hum Genet 2005;13:500-2.
12. Giltay JC, van de Meerakker J, van Amstel HK, de Jong TP. No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. J Urol 2004;171:931-2.
13. Jiang S, Gitlin J, Deng FM, Liang FX, Lee A, Atala A, Bauer SB, Ehrlich GD, Feather SA, Goldberg JD, Goodship JA, Goodship TH, Hermanns M, Hu FZ, Jones KE, Malcolm S, Mendelsohn C, Preston RA, Retik AB, Schneck FX, Wright V, Ye XY, Woolf AS, Wu XR, Ostrer H, Shapiro E, Yu J, Sun TT. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. Kidney Int 2004;66:10-19.
14. Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, de Bruyn R, Flanagan S, Thomas DF, Belk RA, Feather SA, Bingham C, Southgate J, Woolf AS. Mutation analyses of Uroplakin II in children with renal tract malformations. Nephrol Dial Transplant 2006;21:3415-21.
15. Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS. De novo uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol 2005;16:2141-9.
16. Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S. Mutations in uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis 2006;47:1004-12.
17. Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR. Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 1995;4:2183-4.
18. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995;9:358-64.
19. Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N. PAX2 gene mutation in a family with isolated renal hypoplasia. J Am Soc Nephrol 2001;12:1769-72.
20. Choi KL, McNoe LA, French MC, Guilford PJ, Eccles MR. Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. J Med Genet 1998;35:338-9.
21. Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet 2007;80:616-32.
22. Feather SA, Malcolm S, Woolf AS, Wright V, Blaydon D, Reid CJ, Flinter FA, Proesmans W, Devriendt K, Carter J, Warwicker P, Goodship TH, Goodship JA. Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet 2000;66:1420-5.
23. Conte ML, Bertoli-Avella AM, de Graaf BM, Lama G, La Manna A, Rambaldi PF, Oostra BA, Perrotta S. A novel locus for primary familial vesicoureteral reflux maps to chromosome 3q. Eur J Hum Genet 2006;14(Suppl):335.
24. Groenen PM, Vanderlinden G, Devriendt K, Fryns JP, Van de Ven WJ. Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. Genomics 1998;49:218-29.
25. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 2000;58:2281-90.
26. Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, Moritz M, Surti U, Jayakor P, Frederick DR, Vats AN. A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34. J Am Soc Nephrol 2006;17:1158-67.
27. Stefanou EG, Crocker M, Boon A, Stewart H. Cryptic mosaicism for monosomy 20 identified in renal tract cells. Clin Genet 2006;70:228-32.
28. Yoneda A, Cascio S, Green A, Barton D, Puri P. Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. J Urol 2002;168:1138-41.
29. Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, Kim YY, Konka A, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 2005:ASN.2004121034.
30. van Eerde AM, Koelman BPC, van de Kamp JM, de Jong TPVM, Wijmenga C, Giltay JC. Linkage study in four large Dutch families with VUR: exclusion of a previously reported locus and (separate) candidate genes. Eur J Hum Genet 2006;14(Suppl):334.
31. Decter RM. Update on vesicoureteral reflux: pathogenesis, nephropathy, and management. Rev Urol 2001;3:172-8.
32. Greenbaum LA, Mesrobian HG. Vesicoureteral reflux. Pediatr Clin North Am 2006;53:413-27.
33. Orellana P, Pizarro ME, Garcia F, Baquedano P. Daño renal en reflujo vesicoureteral asociado a doble sistema pieloureteral (Renal damage in vesicoureteric reflux associated with duplex pyeloureteric systems). Rev Esp Med Nucl 2005;24:387-91.
34. Abecasis GR, Wigginton JE. Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet 2005;77:754-67.
35. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002;30:97-101.
36. Whittemore AS, Halpern J. A class of tests for linkage using affected pedigree members. Biometrics 1994;50:118-27.
37. Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 1997;61:1179-88.
38. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005;21:2556-7.
39. Webb EL, Sellick GS, Houlston RS. SNPLINK: multipoint linkage analysis of densely distributed SNP data incorporating automated linkage disequilibrium removal. Bioinformatics 2005;21:3060-1.
40. Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL. Vesicoureteric reflux: segregation analysis. Am J Med Genet 1985;20:577-84.
41. Abreu PC, Hodge SE, Greenberg DA. Quantification of type I error probabilities for heterogeneity LOD scores. Genet Epidemiol 2002;22:156-69.
42. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genetics 1995;11:241-7.
43. Abecasis GR, Cookson WO, Cardon LR. Pedigree tests of transmission disequilibrium. Eur J Hum Genet 2000;8:545-51.
44. Nsengimana J, Renard H, Goldgar D. Linkage analysis of complex diseases using microsatellites and single-nucleotide polymorphisms: application to alcoholism. BMC Genet 2005;6(Suppl):S10.
45. Schaid DJ, Guenther JC, Christensen GB, Hebbring S, Rosenow C, Hilker CA, McDonnell SK, Cunningham JM, Slager SL, Blute ML, Thibodeau SN. Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility loci. Am J Hum Genet 2004;75:948-65.
46. Alkuraya FS, Kimonis VE, Holt L, Murata-Collins JL. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A 2005;132:447-9.
47. Armstrong L, Allanson JE, Weaver DD, Bevan CJ, Hobart HH. Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37. Am J Med Genet A 2005;134:299-304.
48. Bacino CA, Kashork CD, Davino NA, Shaffer LG. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet 2000;92:250-5.
49. Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions. Am J Med Genet A 2003;123:285-9.
50. Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features. Genet Couns 2005;16:129-38.
51. Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. Am J Med Genet A 2004;128:410-13.
52. Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet 2001;9:881-6.
53. Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet A 2003;122:261-5.
54. Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP. Terminal 2q37 deletion and autistic behaviour. Genet Couns 2005;16:179-80.
55. Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Couns 2004;15:293-301.
56. Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ. Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin Genet 2004;66:537-44.
57. Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A 2004;130:331-9.
58. Wang TH, Johnston K, Hsieh CL, Dennery PA. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet 1994;49:399-401.
59. Batstone PJ, Simpson S, Bonthron DT, Keng WT, Hamilton D, Forsyth L, Sales M, Pratt N, Goudie D. Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation. Am J Med Genet A 2003;118:241-6.
60. Viot-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker JN, Henry I, Munnich A, Vekemans M, Lyonnet S. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clin Genet 1998;53:278-80.
61. Reddy KS, Flannery D, Farrer RJ. Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet 1999;84:460-8.
62. Waters BL, Allen EF, Gibson PC, Johnston T. Autopsy findings in a severely affected infant with a 2q terminal deletion. Am J Med Genet 1993;47:1099-103.
63. Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC. Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 1999;36:604-9.
64. Macintosh M, Almarhoos G, Heath DA. HLA linkage with familial vesicoureteral reflux and pelviureteric junction obstruction. Tissue Antigens 1989;34:185-9.
65. Yeung CK, Godley ML, Dhillon HK, Gordon I, Duffy PG, Ransley PG. The characteristics of primary vesico-ureteric reflux in male and female infants with pre-natal hydronephrosis. Br J Urol 1997;80:319-27.
66. Pirker ME, Colhoun E, Puri P. Renal scarring in familial vesicoureteral reflux: Is prevention possible? J Urol 2006;176(Suppl):1842-6.
67. Pirker ME, Mohanan N, Colhoun E, Barton D, Green A, Puri P. Familial vesicoureteral reflux: Influence of sex on prevalence and expression. J Urol 2006;176(Suppl):1776-80.
68. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwork C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature 2006;444:444-54.