Afanador Hernández, Yashira M.

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    Establishing the contribution of candidate polymorphisms to the development of End Stage Kidney Disease in Puerto Rico
    (2016) Afanador Hernández, Yashira M.; Oleksyk, Taras K.; College of Arts and Sciences - Sciences; Martínez Cruzado, Juan C.; Schizas, Nikolaos; Department of Biology; Colón Rivera, Celia R.
    According to the latest statistics from the Department of Health of Puerto Rico from 2014, kidney disease is the ninth leading cause of death in the Island. Dialysis treatment for ESRD in Puerto Rico is reported ~4,000 patients annually, and approximately 24% of these patients die every year. The statistics available shows that Hispanics have 1.5 times higher risk of developing kidney disease compared to the non-Hispanic whites. Focal Segmental Glomerulosclerosis (FSGS) and Type 2 Diabetic Nephropathy (T2DN) are among primary causes of ESKD, accounting for 30 and 40% of disease occurrence respectively. In the recent decades, molecular genetic diagnostics, such as PCR and sequencing of genes to examine for disease-causing sequence changes and mutations, have been paving the way to personalized medicine, and the genetic basis of ESKD has been examined rigorously. In modern human populations, sensitivity to complex diseases is often determined by past demographic events, selection, and admixture. Puerto Ricans are the perfect model to understand this relationship as they acquired different characteristics from three ancestral origins: African, European, and Native American. Average ancestry values for the Puerto Rican population vary depending on the sample, and are estimated to be 15.2%, 21.2%, and 63.7% by Via et al. (2011) and 12.8, 24.8% and 62.4% by Gravel et al.(2013) for the Native American, African, and European contributions respectively. Despite the recent progress with next generation sequencing and genotyping technology and admixture analysis, the question of ESKD in Puerto Rico has not been addressed. Several candidate genes with T2DM, T2DM-associated ESRD (T2DM-ESRD) or FSGS associated polymorphisms have been published in the peer reviewed press, but seem to be specific to the population of origin. We made a selection of genes based on previous studies focused on Hispanics, as well as other populations with African, European and Native American ancestries with polymorphisms attributed to be associated with, T2DM, T2DM-ESRD and FSGS. Our main hypothesis is that polymorphisms in these genes are associated with ESKD in Puerto Ricans and that the admixture in the Island presents a chance to examine their relative contributions to this disease. We analyzed the association of single nucleotide polymorphisms (SNPs) that display association with T2DM-ESRD and non-diabetic FSGS as reported in the literature for Hispanic populations, as well as those with African or European ancestry, in a casereference study. We found evidence of genetic polymorphism in all of the SNPs markers associated with the ESKD among the Puerto Rican samples evaluated. There were no significant associations between the candidate loci used in this study and ESKD in our cases compared to the reference. Some of the associations show significant trends (ex. rs73885319 and rs60910145), which are marginally significant (p<0.1); but probably due to the small sample size of the patients, the power needed to document these associations was not sufficient. We used a genotyping panel of 128 ancestry informative markers (AIMs) to determine ancestry proportions in Puerto Rican cases and references. The ESKD samples show a tendency to be enriched in European and deficient in African ancestry. The comparison of the two reference samples separately and combined to the ESKD sample showed a significantly lower proportion of African ancestry in the latter (one-way ANOVA, d.f.=1, p<0.05). While we did not find any association between the candidate loci and the ESKD in patients, this does not indicate that the association does not exist.