Kidney Disease Genetics and the Importance of Diversity in Precision Medicine

Bailey, Jessica N. Cooke; Wilson, Sarah; Brown-Gentry, Kristin; Goodloe, Robert; Crawford, Dana C.

doi:10.1142/9789814749411_0027

Cited by 3 publications

(4 citation statements)

References 23 publications

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“…In contrast, when it comes to the physiological loss of renal function with the advance of age, the female gender has shown to offer greater protection, which is explained by gender hormones and nitric oxide regulation, and consequent less reduction of renal aging [39]. As for race, in the United States of America, it is observed that African Americans present higher rates of renal diseases when compared to the other races [40]. However, in Brazil, relating race to renal function may not be prudent because there is a great racial miscegenation inherent in the national historical-cultural factor.…”

Section: Discussionmentioning

confidence: 99%

Omeprazole use and risk of chronic kidney disease evolution

et al. 2020

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Rationale, aims and objectivesIn recent years, the use of proton pump inhibitors (PPI), especially omeprazole, has been associated with development of chronic kidney disease (CKD). These drugs are widely used worldwide. Although some studies have found an association between the use of PPI and the onset of acute renal failure and CKD. This study aims to analyze the association between the continuous use of omeprazole and the progression of CKD in adult and elderly individuals. MethodA retrospective cohort study was conducted with patients followed up at a nephrology clinic in Brazil, in 2016 and 2017. Information about clinical and sociodemographic data, health behaviors, and medication use were collected from all patients diagnosed with CKD through consultation of medical charts and the Brazilian health information system (SIS). The participants were allocated into two groups: users and non-users of omeprazole, and the progression of CKD was then evaluated for each group. In the bivariate analysis, the Mann-Whitney U test to compare the quantitative variables between groups, and the Pearson/Fisher twotailed chi-square test to compare the categorical variables were applied. Multivariate analysis was performed using Cox regression. ResultsA total of 199 CKD patients were attended in the polyclinic, and of these, 42.7% were omeprazole users. There was a higher percentage of CKD progression in users (70.6%) compared to non-users (10.5%). The hazard ratio was 7.34 (CI: 3.94-13.71), indicating a higher risk of progression to worse stages of CKD in omeprazole users than in non-users. As for the other variables, no statistically significant difference was found between groups (p > 0.05).

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Section: Discussionmentioning

confidence: 99%

Omeprazole use and risk of chronic kidney disease evolution

et al. 2020

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“…Similar to the AMD example, in a PAGE I EAGLE substudy, none of the tested MYH9 variants were associated with chronic kidney disease in non-Hispanic Blacks (73). Furthermore, none of the MYH9 variants showed consistent direction of effect across the three groups tested, which included non-Hispanic Whites, non-Hispanic Blacks, and Mexican Americans (73). The lack of associations was surprising given that the MYH9 variants are in strong linkage disequilibrium with APOL1 variants (77), both of which have been strongly associated with kidney diseases in African-descent participants but not European-descent participants (78).…”

Section: Page Imentioning

confidence: 71%

“…The inability to generalize or replicate GWAS-identified variants from European-descent populations was a theme of PAGE I. Similar to the AMD example, in a PAGE I EAGLE substudy, none of the tested MYH9 variants were associated with chronic kidney disease in non-Hispanic Blacks (73). Furthermore, none of the MYH9 variants showed consistent direction of effect across the three groups tested, which included non-Hispanic Whites, non-Hispanic Blacks, and Mexican Americans (73).…”

Section: Page Imentioning

confidence: 96%

“…The PAGE I study conducted several notable generalization studies for a variety of phenotypes from European-descent GWAS (70)(71)(72)(73)(74). In one such study, PAGE I investigators examined variants previously found in European-descent GWAS to be associated with age-related macular degeneration (AMD) in their diverse populations, including the highly significant missense mutation CFH rs1061170, which is presumably the causal variant in linkage disequilibrium with the original genome-wide finding among participants self-described as non-Hispanic White (75).…”

Section: Page Imentioning

confidence: 99%

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Importance of Diversity in Precision Medicine: Generalizability of Genetic Associations Across Ancestry Groups Toward Better Identification of Disease Susceptibility Variants

Cruz

Bailey

Crawford

2023

Annu. Rev. Biomed. Data Sci.

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Genome-wide association studies (GWAS) revolutionized our understanding of common genetic variation and its impact on common human disease and traits. Developed and adopted in the mid-2000s, GWAS led to searchable genotype–phenotype catalogs and genome-wide datasets available for further data mining and analysis for the eventual development oftranslational applications. The GWAS revolution was swift and specific, including almost exclusively populations of European descent to the neglect of the majority of the world's genetic diversity. In this narrative review, we recount the GWAS landscape of the early years that established a genotype–phenotype catalog that is now universally understood to be inadequate for a complete understanding of complex human genetics. We then describe approaches taken to augment the genotype–phenotype catalog, including the study populations, collaborative consortia, and study design approaches aimed to generalize and then ultimately discover genome-wide associations in non-European descent populations. The collaborations and data resources established in the efforts to diversify genomic findings undoubtedly provide the foundations of the next chapters of genetic association studies with the advent of budget-friendly whole-genome sequencing. Expected final online publication date for the Annual Review of Biomedical Data Science, Volume 6 is August 2023. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene

Adam¹,

Mohammed²,

Elamin³

2020

Medicine

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The prevalence of risk factors of chronic kidney disease in Saudi Arabia has augmented an already serious public health problem, therefore, determination of genetic variants associated with the risk of the disease presents potential screening tools that help reducing the incidence rates and promote effective disease management. The aim of the present study is to determine the association of UMOD and MYH9 genetic variants with the risk of non-diabetic end-stage renal disease (ESRD) in the Saudi population. Two single nucleotide polymorphisms (SNP), rs12917707 in gene UMOD and rs4821480 in gene MYH9 were genotyped in 154 non-diabetic ESRD Saudi patients and 123 age-matched healthy controls using Primers and Polymerase chain reaction conditions (PCR), Sanger sequencing, and TaqMan Pre-designed SNP Genotyping Assay. The association of these genetic variants with the risk of the disease and other renal function determinants was assessed using statistical tools such as logistic regression and One-way Analysis of Variance tests. The genotypic frequency of the two SNPs showed no deviation from Hardy–Weinberg equilibrium, the minor allele frequency of UMOD SNP was 0.13 and MYH9 SNP was 0.08. rs4821480 in MYH9 was significantly associated with the risk of non-diabetic ESRD (OR = 3.86; 95%CI: 1.38–10.82, P value .010), while, rs12917707 showed lack of significant association with the disease, P value .380. and neither of the 2 SNPs showed any association with the renal function determinants, serum albumin, and alkaline phosphatase enzyme.

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Kidney Disease Genetics and the Importance of Diversity in Precision Medicine

Cited by 3 publications

References 23 publications

Omeprazole use and risk of chronic kidney disease evolution

Omeprazole use and risk of chronic kidney disease evolution

Importance of Diversity in Precision Medicine: Generalizability of Genetic Associations Across Ancestry Groups Toward Better Identification of Disease Susceptibility Variants

Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene

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