Elsevier

Kidney International

Volume 65, Issue 3, March 2004, Pages 1026-1030
Kidney International

Clinical Nephrology – Epidemiology – Clinical Trials
NPHS2 R229Q functional variant is associated with microalbuminuria in the general population

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

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.

Keywords

genetics
NPHS2
microalbuminuria

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