<abstract xmlns="http://www.w3.org/1999/xhtml">Introduction: Odd-skipped related 1 (Osr1) protein is a marker of intermediate mesoderm from which all definitive kidney progenitor cells develop. The loss-of-function <italic>OSR1</italic> c.654G>A (rs12329305) polymorphism has been associated with a reduced kidney volume at birth and congenital renal anomalies.The aim of this study was to re-investigate whether the <italic>OSR1</italic> c.654A allele is associated with a smaller kidney volume (a surrogate of the congenital nephron number) in newborns, either alone or in combination with <italic>RET</italic> c.1296G>A(<italic>RET</italic> x <italic>OSR1</italic> interaction).Materials and methods: A total of 178 healthy, full-term Polish newborns were included in this study. Kidney size was measured by ultrasound on the third day of life and normalised for body surface area (TKV/BSA). The <italic>OSR1</italic> polymorphism was identified by mini-sequencing. The reduced model without interaction and the full model including interaction terms were compared using the F test.<bold>Results</bold>: TKV/BSA did not differ across the genotype groups, t(176) = −0.45, p = 0.653 (106 ±24 and 108 ±25 mL/m2 for GG and GA, respectively). Similarly, there was no effect of the c.654G>A geno-type on TKV/BSA after controlling for the effect of covariates, F(1,175) = 0.28, p = 0.598. There was no association of the <italic>RET</italic> x <italic>OSR1</italic> interaction on the TKV/BSA.<bold>Conclusion</bold>: We did not find an association between the <italic>OSR1</italic> c.1296G> A polymorphism, alone and in combination with <italic>RET</italic> c.645G> A and kidney size in a group of healthy full-term newborns.</abstract>

Introduction: Odd-skipped related 1 (Osr1) protein is a marker of intermediate mesoderm from which all definitive kidney progenitor cells develop. The loss-of-function OSR1 c.654G>A (rs12329305) polymorphism has been associated with a reduced kidney volume at birth and congenital renal anomalies.The aim of this study was to re-investigate whether the OSR1 c.654A allele is associated with a smaller kidney volume (a surrogate of the congenital nephron number) in newborns, either alone or in combination with RET c.1296G>A(RET x OSR1 interaction).Materials and methods: A total of 178 healthy, full-term Polish newborns were included in this study. Kidney size was measured by ultrasound on the third day of life and normalised for body surface area (TKV/BSA). The OSR1 polymorphism was identified by mini-sequencing. The reduced model without interaction and the full model including interaction terms were compared using the F test.Results: TKV/BSA did not differ across the genotype groups, t(176) = −0.45, p = 0.653 (106 ±24 and 108 ±25 mL/m2 for GG and GA, respectively). Similarly, there was no effect of the c.654G>A geno-type on TKV/BSA after controlling for the effect of covariates, F(1,175) = 0.28, p = 0.598. There was no association of the RET x OSR1 interaction on the TKV/BSA.Conclusion: We did not find an association between the OSR1 c.1296G> A polymorphism, alone and in combination with RET c.645G> A and kidney size in a group of healthy full-term newborns.

Non-replication of an association between the <italic>Odd-skipped related 1</italic> c.654G&gt;A (rs12329305) polymorphism and kidney volume in newborns

Pomeranian Medical University in Szczecin

Department of Clinical and Molecular Biochemistry

Pomeranian Journal of Life Sciences

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Non-replication of an association between the  c.654G>A (rs12329305) polymorphism and kidney volume in newborns

Introduction: Odd-skipped related 1 (Osr1) protein is a marker of intermediate mesoderm from which all definitive kidney progenitor cells develop. The...

Non-replication of an association between the Odd-skipped related 1 c.654G>A (rs12329305) polymorphism and kidney volume in newborns

Published Online: Mar 25, 2019

Page range: 14 - 18

DOI: https://doi.org/10.21164/pomjlifesci.525

Keywords
genetic association, kidney volume, nephron endowment, replication study

© 2020 Mariusz Kaczmarczyk et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Non-replication of an association between the Odd-skipped related 1 c.654G>A (rs12329305) polymorphism and kidney volume in newborns

Published Online: Mar 25, 2019

Page range: 14 - 18

DOI: https://doi.org/10.21164/pomjlifesci.525

Keywordsgenetic association, kidney volume, nephron endowment, replication study

© 2020 Mariusz Kaczmarczyk et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
genetic association, kidney volume, nephron endowment, replication study