BACKGROUND: Microalbuminuria is a risk factor for developing end-stage renal disease and cardiovascular events. Mutations in NPHS2 have been shown to cause autosomal-recessive nephrotic syndrome. Recently, a functional polymorphism of this gene (R229Q) was described and associated with a maturity-onset form of nephrotic syndrome. We have investigated whether the carrier status of this novel genetic variant is associated with microalbuminuria in individuals from the general population. METHODS: Demographic, cardiovascular risk factors, and renal phenotypes in 1577 individuals from a cross-sectional-based study were collected following the general guidelines of the WHO-MONICA project (monitoring trends and determinants in cardiovascular diseases). Blood and urine samples were obtained. Microalbuminuria was determined using a semiquantitative protocol, and DNA was extracted from peripheral lymphocytes. RESULTS: A strong association was found between the 229Q allele and microalbuminuria (P= 0.008). The presence of the 229Q allele was still associated with a 2.77-fold increased risk of presenting microalbuminuria even after adjustment for age, ethnicity, hypertension, obesity, and diabetes in a multiple logistic regression model. In addition, a statistically significant interaction was identified between the presence of the 229Q allele and body mass index (BMI) (P= 0.01), suggesting an additive effect between the 229Q allele and other risk factors for microalbuminuria. CONCLUSION: These data have important implications for the understanding of microalbuminuria in the general population and may contribute to better ways of disease prediction and prevention.
BACKGROUND: Microalbuminuria is a risk factor for developing end-stage renal disease and cardiovascular events. Mutations in NPHS2 have been shown to cause autosomal-recessive nephrotic syndrome. Recently, a functional polymorphism of this gene (R229Q) was described and associated with a maturity-onset form of nephrotic syndrome. We have investigated whether the carrier status of this novel genetic variant is associated with microalbuminuria in individuals from the general population. METHODS: Demographic, cardiovascular risk factors, and renal phenotypes in 1577 individuals from a cross-sectional-based study were collected following the general guidelines of the WHO-MONICA project (monitoring trends and determinants in cardiovascular diseases). Blood and urine samples were obtained. Microalbuminuria was determined using a semiquantitative protocol, and DNA was extracted from peripheral lymphocytes. RESULTS: A strong association was found between the 229Q allele and microalbuminuria (P= 0.008). The presence of the 229Q allele was still associated with a 2.77-fold increased risk of presenting microalbuminuria even after adjustment for age, ethnicity, hypertension, obesity, and diabetes in a multiple logistic regression model. In addition, a statistically significant interaction was identified between the presence of the 229Q allele and body mass index (BMI) (P= 0.01), suggesting an additive effect between the 229Q allele and other risk factors for microalbuminuria. CONCLUSION: These data have important implications for the understanding of microalbuminuria in the general population and may contribute to better ways of disease prediction and prevention.
Authors: Tobias B Huber; Christopher Kwoh; Hui Wu; Katsuhiko Asanuma; Markus Gödel; Björn Hartleben; Ken J Blumer; Jeffrey H Miner; Peter Mundel; Andrey S Shaw Journal: J Clin Invest Date: 2006-04-20 Impact factor: 14.808
Authors: Meredith A Bostrom; W H Linda Kao; Man Li; Hanna E Abboud; Sharon G Adler; Sudha K Iyengar; Paul L Kimmel; Robert L Hanson; Susanne B Nicholas; Rebekah S Rasooly; John R Sedor; Josef Coresh; Orly F Kohn; David J Leehey; Denyse Thornley-Brown; Erwin P Bottinger; Michael S Lipkowitz; Lucy A Meoni; Michael J Klag; Lingyi Lu; Pamela J Hicks; Carl D Langefeld; Rulan S Parekh; Donald W Bowden; Barry I Freedman Journal: Am J Kidney Dis Date: 2011-11-25 Impact factor: 8.860
Authors: Therese C Jungraithmayr; Katrin Hofer; Pierre Cochat; Gil Chernin; Gerard Cortina; Sonja Fargue; Paul Grimm; Tanja Knueppel; Andreas Kowarsch; Thomas Neuhaus; Philipp Pagel; Karl P Pfeiffer; Franz Schäfer; Ulf Schönermarck; Tomas Seeman; Burkhard Toenshoff; Stefanie Weber; Michelle P Winn; Johannes Zschocke; Lothar B Zimmerhackl Journal: J Am Soc Nephrol Date: 2011-02-25 Impact factor: 10.121