Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies

T Arcidiacono, A Mingione, L Macrina, F Pivari… - American journal of …, 2015 - karger.com
Background: Calcium nephrolithiasis is a multifactorial disease with a polygenic milieu.
Association studies identified genetic polymorphisms potentially implicated in the …

Genetic variants associated with circulating parathyroid hormone

C Robinson-Cohen, PL Lutsey, ME Kleber… - Journal of the …, 2017 - journals.lww.com
Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH
concentrations in primary and secondary hyperparathyroidism have been associated with …

Vitamin D and kidney stone disease

J Tang, MB Chonchol - Current Opinion in Nephrology and …, 2013 - journals.lww.com
The effect of nutritional vitamin D use in stone formers is still not clear. As vitamin D
deficiency is highly prevalent among stone formers, future prospective studies are needed to …

Correlates of kidney stone disease differ by race in a multi-ethnic middle-aged population: the ARIC study

S Akoudad, M Szklo, MA McAdams, T Fulop… - Preventive …, 2010 - Elsevier
OBJECTIVE: To identify correlates of kidney stone disease in white and African American
men and women in a population-based longitudinal study starting in four US communities …

Epigenetic regulation of microRNAs controlling CLDN14 expression as a mechanism for renal calcium handling

Y Gong, N Himmerkus, A Plain, M Bleich… - Journal of the American …, 2015 - journals.lww.com
The kidney has a major role in extracellular calcium homeostasis. Multiple genetic linkage
and association studies identified three tight junction genes from the kidney—claudin-14 …

Genetic risk factors for idiopathic urolithiasis: a systematic review of the literature and causal network analysis

K Taguchi, T Yasui, DS Milliner, B Hoppe, T Chi - European urology focus, 2017 - Elsevier
Context Urolithiasis has a high prevalence and recurrence rate. Prevention is key to patient
management, but risk stratification is challenging. In particular, genetic predisposition for …

Parathyroid hormone and bone mineral density: a Mendelian randomization study

Z Qu, F Yang, J Hong, W Wang… - The Journal of Clinical …, 2020 - academic.oup.com
Purpose Accumulating evidence implicates parathyroid hormone (PTH) in the development
of osteoporosis. However, the causal effect of PTH on bone mineral density (BMD) remains …

[HTML][HTML] Genetics and calcium nephrolithiasis

G Vezzoli, A Terranegra, T Arcidiacono, L Soldati - Kidney international, 2011 - Elsevier
Calcium nephrolithiasis is one of the most prevalent uronephrologic disorders in the western
countries. Studies in families and twins evidenced a genetic predisposition to calcium …

Molecular mechanisms altering tubular calcium reabsorption

ML Downie, RT Alexander - Pediatric Nephrology, 2022 - Springer
The majority of calcium filtered by the glomerulus is reabsorbed along the nephron. Most is
reabsorbed from the proximal tubule (> 60%) via a paracellular pathway composed of the …

Effect of race and genetics on vitamin D metabolism, bone and vascular health

BI Freedman, TC Register - Nature Reviews Nephrology, 2012 - nature.com
The pathophysiology of chronic kidney disease–mineral and bone disorder accounts for an
inverse relationship between bone mineralization and vascular calcification in progressive …