Role of genomics in eliminating health disparities

Abstract

The Texas Center for Health Disparities, a National Institute on Minority Health and Health Disparities Center of Excellence, presents an annual conference to discuss prevention, awareness education, and ongoing research about health disparities both in Texas and among the national population. The 2014 Annual Texas Conference on Health Disparities brought together experts in research, patient care, and community outreach on the “Role of Genomics in Eliminating Health Disparities.” Rapid advances in genomics and pharmacogenomics are leading the field of medicine to use genetics and genetic risk to build personalized or individualized medicine strategies. We are at a critical juncture of ensuring such rapid advances benefit diverse populations. Relatively few forums have been organized around the theme of the role of genomics in eliminating health disparities. The conference consisted of three sessions addressing “Gene-Environment Interactions and Health Disparities,” “Personalized Medicine and Elimination of Health Disparities,” and “Ethics and Public Policy in the Genomic Era.” This article summarizes the basic science, clinical correlates, and public health data presented by the speakers.

GWAS of Folate Metabolism With Gene–environment Interaction Analysis Revealed the Possible Role of Lifestyles in the Control of Blood Folate Metabolites in Japanese: The J-MICC Study

“…The different SNPs found to be GWAS significant in association with blood folate metabolites may suggest the results of different evolutionary pressure between ethnicities and may lead to population-specific prevention strategies against diseases related to folate metabolism disorders, such as atherosclerosis and CVDs. 58,59 In previous studies, a positive interaction between MTHFR C677T and smoking habits on plasma Hcy was reported. 18,[60][61][62][63] The present study revealed the marginal interaction in the same direction, although it did not reach statistical significance.…”

“…The different SNPs found to be GWAS significant in association with blood folate metabolites may suggest the results of different evolutionary pressure between ethnicities and may lead to population-specific prevention strategies against diseases related to folate metabolism disorders, such as atherosclerosis and CVDs. 58 , 59 …”

Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study

“…The minor allele frequencies of the newly detected SNPs for Japanese (those with the top p values in each locus) were 0.2326 in Japanese, 0.0221 in Caucasians, and 0.0974 in Africans for the LRP2 rs3770636 G  allele; 0.4355 in East Asians, 0.0924 in Europeans, and 0.2095 in Africans for the NFATC1 rs74183647 C allele; 0.0288 in East Asians, 0.0010 in Europeans, and 0.0000 in Africans for the rs555786707 A allele on chr 4; and 0.0317 in East Asians, 0.0000 in Europeans, and 0.0000 in Africans for the rs78351985 G allele on chr 4 according to the Single Nucleotide Polymorphism database (dbSNP) (https://www.ncbi.nlm.nih/gov/SNP), all of which are more than 1%, suggesting the substantial involvement of these variants in the regulation of renal functions in Japanese and East Asians. Although worldwide GWAS consortiums of human chronic diseases are flourishing these days, such GWAS of each race/ethnicity may also be considered meaningful, given that the racially/ethnically specific gene-environment interaction could provide more effective ways for disease prevention in each race/ethnicity [7, 40]. The strength of the present study is the large sample size and the densely imputed genetic data, which lead to the discovery of as yet unidentified genetic loci associated with renal functions specifically in Japanese population.…”

“…For example, recent GWASs investigating the genetic loci associated with kidney function identified the glucokinase regulator locus on chromosome (chr) 2 as highly significant loci [5, 6]. Additionally, genotype distributions and factors related to lifestyles are known to differ according to races, ethnicity, and nations, which may lead to the existence of diverse population-specific gene-environmental interactions, making the nation-based reports of genetic associations still meaningful for the effective prevention of disease in each population [7]. Recently, a meta-analysis in an East Asian population revealed 17 loci that were newly associated with renal function traits.…”

Enalapril and the VEGFA gene: Personalized medicine in hypertension therapy

“…Dear editor, Polymorphisms in the vascular endothelial growth factor A (VEGFA) gene and their effect on antihypertensive responses to enalapril were studied by Oliveira-Paula et al, and the results were published recently [1]. With the introduction of modern technologies to determine genetic variations in an individual, the concept of personalized medicine receives increasing acceptance among health care personnel [2].…”