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Abstract Kidney stone disease has historically shown higher incidence in men than women, but emerging evidence suggests this gap narrows with age. Using the UK Biobank, we analyzed 494,745 stone-free participants from 2010 to 2022. During follow-up, 5,614 incident cases were identified, with men consistently at higher risk. However, the male-to-female relative risk declined significantly with advancing age, decreasing 0.86%-1.34% per year (Y = 3.49–0.02x).
Abstract Cystine stones are caused by pathogenic variants in SLC3A1 or SLC7A9. Our prior study revealed a large gap between genetic and clinical prevalence. With increasing discovery of novel variants, we aim to assess how these impact genetic prevalence estimates. Due to the disease rarity, direct patient recruitment and observation is impractical. We applied a population genetics approach to estimate genetic burden and prevalence.
Home > UTHealth > McGovern Medical School > Journal Articles > 2106 American Journal of Medical Genetics Animals, Disease Models, Animal, Exome, Humans, Mice, Spinal Dysraphism, Exome Sequencing DOWNLOADS COinS
Monogenic causes account for up to 20% of nephrolithiasis instances and are crucial for developing targeted treatments. Whole-exome sequencing, genome-wide association, candidate gene, and in vitro and animal functional studies are crucial to identify these mutations. Therapies targeting monogenic variants, such as RNA-interference-based treatments, have been successfully used to treat monogenic disorders.
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