A genome-wide association study suggests correlations of common genetic variants with peritoneal solute transfer rates in patients with kidney failure receiving peritoneal dialysis

Stanaway, Ian B.; Jarvik, Gail P.; Lambie, Mark; Pisoni, Ronald L.; Robinson, Bruce M.; Johnson, David W.; Cho, Yeoungjee; Wong, Muh Geot; Mather, Amanda; Cooper, Bruce A.; Devuyst, Olivier; Morelle, Johann; Goffin, Éric; Bammens, Bert; Bovy, Philippe; Margetts, Peter J.; Perl, Jeffrey; Taylor, Paul A.; Jain, A; Jassal, Vanita; Stenvinkel, Peter; Heimbürger, Olof; Kuan, Ying; Harron, Camille; Dasgupta, Indranil; Stoves, John; Akbani, Habib; Abeygunasekara, Sumith; Sharples, Edward; Mead, Paul; Hayat, Amer; Morgan, Neal; Cramp, Hilary; Robertson, Susan J.; Fielding, Richard; Brown, Edwina A.; Collinson, Helen; Ande, Pravene; Doulton, Tim; Macdougall, Iain C.; Cairns, Hugh; Vilar, E.; Vardhan, Anand; Chess, James; Sandhu, Kanwaljit; Wilkie, Martin; McHaffie, Gavin S.; Lewis, Robert; Kamesh, Lavanya; Buck, Kate; Peel, Robert; Taylor, Jo; Johnston, Paul A.; Leung, J. C. K.; Bingham, Coralie; Anijeet, Hameed; Asghar, Ramzana B.; Ranakrishna, Satish; Nair, Sunita; Iggo, Neil; Lewis, David; Udayaraj, Uday; Dawson, Susan; Woordrow, Graham; Chandrasekar, Thangavelu; Hamer, Rizwan; Barratt, Jonathan; Baines, Richard; Davies, Simon; Donovan, Kieron; Jones, Colin; Ynares, C; Dukes, Carl; Imam, Talha H; Corapi, Kristin M.; Nigwekar, Sagar U.; Khawar, Osman; Weiner, Daniel J.; Lau, Wei Ling; Harley, Kevin; Ghaffari, Arshia; Saxena, Ramesh; Abraham, Josephine; Mehrotra, Rajnish; Himmelfarb, Jonathan; Cavanaugh, Kerri L.; Golper, Thomas A.; Burkart, John M.; Pirkle, James L.; Miller, Bradley R.; Jang, Judy; Turner, Jeffrey M.

doi:10.1016/j.kint.2021.05.037

Cited by 18 publications

(16 citation statements)

References 55 publications

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“…And this is exactly what a recent study by Mehrotra et al investigated [10]. The authors performed a GWAS in a cohort of over 2000 European PD patients to search for associations between any of > 2.3 million genetic variants and PSTR.…”

Section: Predicting Pore Performancementioning

confidence: 63%

“…Even the genetically most advantageous "Ubermembrane" will not transport sufficiently, if scarred by infections. As discussed above, Mehrotra et al calculate that roughly one fifth of the variability in PSTR is inherited, yet that this is driven by numerous variants, each with rather small effects [10]. In this regard, it is unfortunate that the study on UF only assessed variants in the candidate gene AQP1, rather than performing a GWAS.…”

Section: Discussionmentioning

confidence: 99%

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Is my PET in my genes?

2022

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Precision medicine holds the promise of individualized care. Thus, while traditional evidence-based medicine, with its reliance on large randomized controlled trials, can only provide prognostic and treatment information for a defined group of patients, precision medicine aims to go beyond that, by providing accurate information on treatment response and prognosis for each individual patient. Thereby, precision medicine tries to address the problem of the large spectrum of severity within a given clinical group, by identifying the genetic and environmental factors that contribute to the phenotypic diversity. Imagine that you could with reasonable accuracy predict beforehand whether a patient with, for instance, IgA nephropathy will eventually have spontaneous resolution or progressive chronic kidney disease, whether this will respond to immunosuppression and, if so, which drug will work best with the least side effects! Or, as we will discuss here, whether a patient with kidney failure is likely to do well on peritoneal dialysis (PD) or not and with what kind of PD prescription.

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Section: Predicting Pore Performancementioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Is my PET in my genes?

2022

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“…Among patients starting treatment with peritoneal dialysis, there is a broad variability in water and solute transport across the peritoneal membrane, which influences dialysis prescriptions and outcomes [ 37 , 38 , 39 , 40 ]. A recent genome-wide study showed that the peritoneal small-solute transport rate was associated with a polygenic risk score and with 17% heritability; these findings support a genetic influence on solute transport across the peritoneal membrane [ 41 ]. It was recently demonstrated that a common promoter variant rs2075574 in AQP1 was associated with decreased ultrafiltration and with an increased risk of death or technique failure among peritoneal dialysis patients [ 42 ].…”

Section: Molecular and Genetic Studiesmentioning

confidence: 98%

“…It was recently demonstrated that a common promoter variant rs2075574 in AQP1 was associated with decreased ultrafiltration and with an increased risk of death or technique failure among peritoneal dialysis patients [ 42 ]. The translation of genetic and molecular insights to precision medicine would help to understand better the dialysis process and to improve dialysis care [ 41 , 43 ].…”

Section: Molecular and Genetic Studiesmentioning

confidence: 99%

The Peritoneal Membrane—A Potential Mediator of Fibrosis and Inflammation among Heart Failure Patients on Peritoneal Dialysis

Kunin

Beckerman

2022

Membranes

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Peritoneal dialysis is a feasible, cost-effective, home-based treatment of renal replacement therapy, based on the dialytic properties of the peritoneal membrane. As compared with hemodialysis, peritoneal dialysis is cheaper, survival rate is similar, residual kidney function is better preserved, fluid and solutes are removed more gradually and continuously leading to minimal impact on hemodynamics, and risks related to a vascular access are avoided. Those features of peritoneal dialysis are useful to treat refractory congestive heart failure patients with fluid overload. It was shown that in such patients, peritoneal dialysis improves functional status and quality of life, reduces hospitalization rate, and may decrease mortality rate. High levels of serum proinflammatory cytokines and fibrosis markers, among other factors, play an important part in congestive heart failure pathogenesis and progression. We demonstrated that those levels decreased following peritoneal dialysis treatment in refractory congestive heart failure patients. The exact mechanism of beneficial effect of peritoneal dialysis in refractory congestive heart failure is currently unknown. Maintenance of fluid balance, leading to resetting of neurohumoral activation towards a more physiological condition, reduced remodeling due to the decrease in mechanical pressure on the heart, decreased inflammatory cytokine levels and oxidative stress, and a potential impact on uremic toxins could play a role in this regard. In this paper, we describe the unique characteristics of the peritoneal membrane, principals of peritoneal dialysis and its role in heart failure patients.

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“…Mehrotra et al [17] collected blood samples from 2850 PD patients in different regions for Genome-wide association study (GWAS) analysis, and found that genetic variation was an important factor influencing inter-individual variation of PSTR. Morelle et al [18] performed Aquaporin 1 (AQP1) genotyping in 1851 PD patients and found that the AQP1 rs2075574 genotype was associated with ultrafiltration and prognosis in PD patients: T allele of rs2075574 carriers had a lower mean net ultrafiltration than C allele carriers and had a higher risk of all-cause mortality and technique failure. Further basic studies confirmed that this locus was associated with AQP1 promoter activity and AQP1 expression.…”

mentioning

confidence: 99%

Peritoneal Imaging may be the Last Piece of the Puzzle for Precision Evaluation of Peritoneal Function

2022

Archives of Nephrology and Renal Studies

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A genome-wide association study suggests correlations of common genetic variants with peritoneal solute transfer rates in patients with kidney failure receiving peritoneal dialysis

Cited by 18 publications

References 55 publications

Is my PET in my genes?

Is my PET in my genes?

The Peritoneal Membrane—A Potential Mediator of Fibrosis and Inflammation among Heart Failure Patients on Peritoneal Dialysis

Peritoneal Imaging may be the Last Piece of the Puzzle for Precision Evaluation of Peritoneal Function

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