Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1

S A Feather; S Malcolm; A S Woolf; V Wright; D Blaydon; C J D Reid; F A Flinter; W Proesmans; K Devriendt; J Carter; P Warwicker; T H J Goodship; J A Goodship

doi:10.1086/302864

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1

S A Feather, S Malcolm, A S Woolf, V Wright, D Blaydon, C J D Reid, F A Flinter, W Proesmans, K Devriendt, J Carter, P Warwicker, T H J Goodship, J A Goodship

King's College London

Research output: Contribution to journal › Article › peer-review

130 Citations (Scopus)

Abstract

Primary vesicoureteric reflux (VUR) affects 1%-2% of whites, and reflux nephropathy (RN) causes up to 15% of end-stage renal failure in children and adults. There is a 30-50-fold increased incidence of VUR in first-degree relatives of probands, compared with the general population. We report the results of the first genomewide search of VUR and RN; we studied seven European families whose members exhibit apparently dominant inheritance. We initially typed 387 polymorphic markers spaced, on average, at 10 cM throughout the genome; we used the GENEHUNTER program to provide parametric and nonparametric linkage analyses of affected individuals. The most positive locus spanned 20 cM on 1p13 between GATA176C01 and D1S1653 and had a nonparametric LOD score (NPL) of 5.76 (P=.0002) and a parametric LOD score of 3.16. Saturation with markers at 1-cM intervals increased the NPL to 5.94 (P=.00009). Hence, VUR maps to a locus on chromosome 1. There was evidence of genetic heterogeneity at the chromosome 1 locus, and 12 additional loci were identified genomewide, with P

Original language	English
Pages (from-to)	1420 - 1425
Number of pages	6
Journal	American Journal of Human Genetics
Volume	66
Issue number	4
DOIs	https://doi.org/10.1086/302864
Publication status	Published - 2000

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Feather, S. A., Malcolm, S., Woolf, A. S., Wright, V., Blaydon, D., Reid, C. J. D., Flinter, F. A., Proesmans, W., Devriendt, K., Carter, J., Warwicker, P., Goodship, T. H. J., & Goodship, J. A. (2000). Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. American Journal of Human Genetics, 66(4), 1420 - 1425. https://doi.org/10.1086/302864

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title = "Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1",

abstract = "Primary vesicoureteric reflux (VUR) affects 1%-2% of whites, and reflux nephropathy (RN) causes up to 15% of end-stage renal failure in children and adults. There is a 30-50-fold increased incidence of VUR in first-degree relatives of probands, compared with the general population. We report the results of the first genomewide search of VUR and RN; we studied seven European families whose members exhibit apparently dominant inheritance. We initially typed 387 polymorphic markers spaced, on average, at 10 cM throughout the genome; we used the GENEHUNTER program to provide parametric and nonparametric linkage analyses of affected individuals. The most positive locus spanned 20 cM on 1p13 between GATA176C01 and D1S1653 and had a nonparametric LOD score (NPL) of 5.76 (P=.0002) and a parametric LOD score of 3.16. Saturation with markers at 1-cM intervals increased the NPL to 5.94 (P=.00009). Hence, VUR maps to a locus on chromosome 1. There was evidence of genetic heterogeneity at the chromosome 1 locus, and 12 additional loci were identified genomewide, with P",

author = "Feather, {S A} and S Malcolm and Woolf, {A S} and V Wright and D Blaydon and Reid, {C J D} and Flinter, {F A} and W Proesmans and K Devriendt and J Carter and P Warwicker and Goodship, {T H J} and Goodship, {J A}",

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Feather, SA, Malcolm, S, Woolf, AS, Wright, V, Blaydon, D, Reid, CJD, Flinter, FA, Proesmans, W, Devriendt, K, Carter, J, Warwicker, P, Goodship, THJ & Goodship, JA 2000, 'Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1', American Journal of Human Genetics, vol. 66, no. 4, pp. 1420 - 1425. https://doi.org/10.1086/302864

TY - JOUR

T1 - Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1

AU - Feather, S A

AU - Malcolm, S

AU - Woolf, A S

AU - Wright, V

AU - Blaydon, D

AU - Reid, C J D

AU - Flinter, F A

AU - Proesmans, W

AU - Devriendt, K

AU - Carter, J

AU - Warwicker, P

AU - Goodship, T H J

AU - Goodship, J A

PY - 2000

Y1 - 2000

N2 - Primary vesicoureteric reflux (VUR) affects 1%-2% of whites, and reflux nephropathy (RN) causes up to 15% of end-stage renal failure in children and adults. There is a 30-50-fold increased incidence of VUR in first-degree relatives of probands, compared with the general population. We report the results of the first genomewide search of VUR and RN; we studied seven European families whose members exhibit apparently dominant inheritance. We initially typed 387 polymorphic markers spaced, on average, at 10 cM throughout the genome; we used the GENEHUNTER program to provide parametric and nonparametric linkage analyses of affected individuals. The most positive locus spanned 20 cM on 1p13 between GATA176C01 and D1S1653 and had a nonparametric LOD score (NPL) of 5.76 (P=.0002) and a parametric LOD score of 3.16. Saturation with markers at 1-cM intervals increased the NPL to 5.94 (P=.00009). Hence, VUR maps to a locus on chromosome 1. There was evidence of genetic heterogeneity at the chromosome 1 locus, and 12 additional loci were identified genomewide, with P

AB - Primary vesicoureteric reflux (VUR) affects 1%-2% of whites, and reflux nephropathy (RN) causes up to 15% of end-stage renal failure in children and adults. There is a 30-50-fold increased incidence of VUR in first-degree relatives of probands, compared with the general population. We report the results of the first genomewide search of VUR and RN; we studied seven European families whose members exhibit apparently dominant inheritance. We initially typed 387 polymorphic markers spaced, on average, at 10 cM throughout the genome; we used the GENEHUNTER program to provide parametric and nonparametric linkage analyses of affected individuals. The most positive locus spanned 20 cM on 1p13 between GATA176C01 and D1S1653 and had a nonparametric LOD score (NPL) of 5.76 (P=.0002) and a parametric LOD score of 3.16. Saturation with markers at 1-cM intervals increased the NPL to 5.94 (P=.00009). Hence, VUR maps to a locus on chromosome 1. There was evidence of genetic heterogeneity at the chromosome 1 locus, and 12 additional loci were identified genomewide, with P

U2 - 10.1086/302864

DO - 10.1086/302864

M3 - Article

SN - 1537-6605

VL - 66

SP - 1420

EP - 1425

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1

Abstract

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