Lower frequency of the 5/5 homozygous CNDP1 genotype in South Asian Surinamese
A L Mooyaart1, I G M van Valkengoed, P K Chandie Shaw
1Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. a.l.mooyaart@lumc.nl
Abstract:
We investigated the frequency of the 5/5 homozygous CNDP1 (carnosinase) genotype, which was found to be associated with a reduced risk of developing diabetic nephropathy, in three ethnic groups in The Netherlands. Particularly interesting were the South Asian Surinamese, who have a high prevalence of diabetic nephropathy. Furthermore, we investigated the association between this gene and carnosinase activity in South Asian Surinamese and whether carnosinase was expressed in the kidney. We genotyped 290 South Asian Surinamese, 532 African Surinamese, and 472 White Dutch in a cross-sectional population study. Furthermore, an independent cohort of South Asian Surinamese was genotyped. In this population, carnosinase activity was measured in serum. Immunostaining and in situ hybridization for CNDP1 were performed on kidney tissue. Both South Asian populations had lower frequencies of the 5/5 homozygous genotype than African Surinamese and White Dutch (23.0%, 27.2%, 38.2%, and 41.3%, respectively; chi-square, p<0.001). This genotype showed a lower carnosinase activity in South Asian Surinamese (Wilcoxon rank-sum, p=0.03). CNDP1 was expressed in the kidney. South Asian Surinamese have a lower frequency of the 5/5 homozygous genotype, which was associated with lower carnosinase activity. Our study provides an indication that South Asian Surinamese are genetically at risk for developing diabetic nephropathy.
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