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Ethnic Factors in Hypertension
Published in Giuseppe Mancia, Guido Grassi, Konstantinos P. Tsioufis, Anna F. Dominiczak, Enrico Agabiti Rosei, Manual of Hypertension of the European Society of Hypertension, 2019
Katarzyna Stolarz-Skrzypek, Danuta Czarnecka, Andrzej Januszewicz
The four to five times greater risk for developing chronic kidney disease (CKD) or ESRD in hypertensive blacks has been linked to unique genetic polymorphisms, including MYH9 and apolipoprotein L1 gene (APOL1), which is found primarily with African ancestry and associated with focal segmental glomerular sclerosis and hypertensive kidney disease (36).
Acute kidney injury in COVID 19 – an update on pathophysiology and management modalities
Published in Archives of Physiology and Biochemistry, 2023
Manoj Khokhar, Purvi Purohit, Dipayan Roy, Sojit Tomo, Ashita Gadwal, Anupama Modi, Mithu Banerjee, Praveen Sharma
Various genetic factors have been postulated to play a dominant role in the development of renal damage in COVID-19 patients. He et al. (2020), by single-cell Ribonucleic acid (RNA) sequencing analysis, showed that renal tissue invasion and damage occurred through the Angiotensin-Converting Enzyme 2 (ACE2) pathway and Transmembrane protease serine 2 (TMPRSS2). Nadim et al. (2020) suggested that polymorphism in ACE2 of podocyte and epithelial cells alters the ability of virus entry. Apolipoprotein L1 (APOL1) alleles is a genetic risk factor that affects the disease susceptibility for collapsing glomerulopathy and poses a high risk, especially among people of African ancestry (Genovese et al.2010, Kissling et al.2020, Larsen et al.2020, p. 19, Peleg et al.2020). The APOL1 genotype may lead to the development of acute kidney injury due to a Second Hit of infection (Chang et al.2019, Velez et al.2020, p. 19). Further evidences from studies are required to better understand the role of genetics in predisposing patients to AKI.
Novel avenues for drug discovery in diabetic kidney disease
Published in Expert Opinion on Drug Discovery, 2018
Matthew D. Breyer, Matthias Kretzler
The complexity of elucidating the biological significance of genetic information including non-coding single-nucleotide polymorphisms (SNPs)-associated kidney disease is further illustrated by the identification of apolipoprotein L1 (ApoL1) polymorphisms causing CKD in people of African descent [120]. A non-coding SNP on chromosome 22 associated with kidney disease was originally identified within the myosin heavy chain 9 (Myh9) gene [121,122]. Myh9 coding mutations had previously been associated with kidney disease so the gene seemed a likely candidate; however, no coding mutations in the affected patients could be identified. Only after several years were these SNPs found to be in linkage disequilibrium with coding SNPs in the neighboring gene, ApoL1 [120,123]. These coding ApoL1 polymorphisms are now believed to be relevant polymorphisms causing kidney disease [124]; however, these polymorphisms primarily cause non-diabetic rather than DKD. ApoL1 is also instructive because it is not present in rodents and only present in a subset of primates including humans [125,126], making model development for the disease challenging. Humanization of rodent models provides one path for genetic disease modeling [124]; however, as genetic risk alleles continue to be identified, it may prove more efficient to study the effects of these polymorphism on tissue function in kidney organoids or in microphysiological systems using cells derived from induced pluripotent stem cells (iPS) derived from patients with the relevant genetic polymorphisms[127].
Deepening our understanding of HDL proteome
Published in Expert Review of Proteomics, 2019
Graziella Eliza Ronsein, Tomáš Vaisar
Overall, 566 proteins have been reported to be associated with HDL. Strikingly, only 2 proteins, APOA1 and apolipoprotein L1 (APOL1) were identified in all studies (Figure 1(a)) and only 21 proteins were found by ~75% (30) studies. Moreover, less than 25% of proteins (139) were identified by at least five different studies, while more than 50% (297) were detected by a single study (Figure 1(a)).