Renal transplant recipents (RTRs) are at increased risk of keratinocyte cancer (KC) , especially cutaneous squamous cell carcinoma (cSCC). Previous studies identifieda genetic variant of Methylenetetrahydrofolate Reductase (MTHFR) gene , C677T, which conferred a risk for diagnosis of cSCC in irish RTRs.
Authors: L.Griffin, L.Ho, R.J Akhurst, S.T Arron, J,M.E Boggs, P.Conlon, P.O Kelly, A.E Toland, E.H Epstein, A.Balmain, B.C Bastian, F.J Moloney, G.M Murphy, M.E Laing.
Date: Skin Health and Diseases, 2022,e95
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (∼78% and ∼15% of families) and GANAB, DNAJB11, and ALG9 are minor genes. PKD is a ciliary-associated disease, a ciliopathy, and many syndromic ciliopathies have a PKD phenotype.
Authors: Sarah R Senum, Ying Sabrina M Li, Katherine A Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D Madsen, Adriana V Gregory, Ruxandra Neatu, Timothy L Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B Nau, Esther Meijer, Hamad Ali, Theodore I Steinman, Michal Mrug, Paul J Phelan, Terry J Watnick, Dorien J M Peters, Albert C M Ong, Peter J Conlon, Ronald D Perrone, Emilie Cornec-Le Gall, Marie C Hogan, Vicente E Torres, John A Sayer, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Peter C Harris
Date: Am J Hum Genet.2022 Jan 6;109(1):136-156
The genetic architecture of chronic kidney disease (CKD) remains incompletely understood. Variants in the kidney-specific gene UMOD cause autosomal dominant tubulointerstitial kidney disease(ADTKD) and are associated with kidney function and the risk of CKD in the general population. We identified an intermediate-effect variant, p.Thr62Pro, detected in ∼1/1,000 individuals of European ancestry that showed a high genetic load in familial clusters of CKD and was associated with an odds ratio (OR) of approximately four for kidney failure in the 100,000 Genomes Project and the UK Biobank.
Authors: Eric Olinger, Celine Schaeffer, Kendrah Kidd, Elhussein A. E. Elhassan, Yurong Chengh, Ines Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian J. Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Genomics England Research Consortium, Kai-Uwe Eckardt, Anthony J. Bleyer Sr., Anna Kottgen, Peter J. Conlon, Michael Wiesener, John A. Sayer, Luca Rampoldi and Olivier Devuyst.
Date: PNAS 2022 Vol. 119 No. 33 e2114734119