Case Control Study

The aims of the genetics case-control study are:

AIM 1: Conduct a case-control genome-wide association study (GWAS) of former sugar cane workers with CKDnt (cases) and compare with current healthy workers (controls) from the same community who have similar environmental exposures.

AIM 2:  Study extended families to identify genetic variants that contribute to CKDnt. We have collected DNA and detailed clinical information from most of the affected and many unaffected members of 25 large multigenerational families (n=300). We have found that many of these independently recruited families are interrelated.

AIM 3: Explore genetic risk factors for CKDnt in other communities and occupations. Although originally described in agricultural communities, CKDnt is more widespread than previously recognized. We will test risk alleles discovered in Aim 1 in three groups in which we have already documented high rates of CKD: in a mining community, in brickmakers, and in a prospective longitudinal cohort of mixed occupations. We will also pool these three community populations into a cohort for new SNP discovery with validation in our sugarcane case-control study. 

To date, we have collected DNA saliva samples from over 1,000 participants in northwestern Nicaragua. We analyze this genetic data through genome-wide association studies (GWAS), where genetic differences between kidney patients (cases) and healthy workers (controls) are identified. Of interest are genes involved in the kidney’s ability to concentrate urine, conserve water, regulate heat, remove toxins, and other functions important to kidney health. When combined with information from other study activities, these data will help provide insight into which environmental exposures are more or less likely to be involved in the occurrence of CKDnt in this population, and whether genetic variation within the population is a contributing factor to disease susceptibility.

Funding: This study is funded by National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) R01 DK116021-01A1.

Publications: None to date.