NPHS2 R229Q functional variant is associated with microalbuminuria in the general population

Date
2004-03-01Author
Pereira, Alexandre C.
Pereira, Aparecido Bernardo [UNIFESP]
Mota, Glória F.
Cunha, Roberto S.
Herkenhoff, Fernando L.
Pollak, Martin R.
Mill, José Geraldo
Krieger, José Eduardo
Type
ArtigoISSN
0085-2538Is part of
Kidney InternationalDOI
10.1111/j.1523-1755.2004.00479.xMetadata
Show full item recordAbstract
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.
Citation
Kidney International. Malden: Blackwell Publishing Inc, v. 65, n. 3, p. 1026-1030, 2004.Keywords
geneticsNPHS2
microalbuminuria
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