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2023 ACMG Annual Clinical Genetics Meeting Digital ...
GENETICS PREVALANCE OF CYSTINE STONE: A 6 YEAR LON ...
GENETICS PREVALANCE OF CYSTINE STONE: A 6 YEAR LONGITUDINAL COMPARISON
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Pdf Summary
Cystine stones are a result of cystinuria, a rare heritable condition where there is an excess excretion of cystine in the urine. Two genes, SLC3A1 and SLC7A9, are involved in this condition. A previous study in 2016 investigated the genetic prevalence of cystine stones and found it to be lower compared to the observed phenotypes in a clinical setting. In this current study, the researchers performed a new investigation using updated data from 2022 to compare the genetic prevalence with the calculation from 2016.<br /><br />The researchers utilized two databases, the 1000 Genomes Project Phase 3 and the Human Gene Mutation Database, to identify variants in the general population and pathogenic variants, respectively. They procured SLC3A1 and SLC7A9 variants from both databases and calculated the pathogenic allele frequency, carrier rate, and affected rate based on the Hardy-Weinberg equilibrium.<br /><br />The results showed an increase in pathogenic variants of SLC3A1 and SLC7A9 in the updated HGMD data compared to the 2016 data. Among healthy individuals in the 1KG database, there were people carrying unique variants of both genes. The pathogenic allele frequency and prevalence estimate were calculated, showing a slight increase from the 2016 estimate. However, the genetic prevalence is still lower than the clinical prevalence.<br /><br />The study concludes that there are several possible explanations for this difference, including novel variants, undiscovered genes, alternative inheritance models, environmental factors, founder effect, or other modification factors. Further studies are necessary to clarify these gaps in knowledge.<br /><br />In summary, this study investigates the genetic prevalence of cystine stones and finds that it is lower than the prevalence observed clinically. The researchers provide possible explanations for this difference and call for further studies to fill the gaps in knowledge.
Asset Subtitle
Presenting Author - Joshua Chang, Bachlor's; Co-Author - Jad Badreddine, MD; Co-Author - Euhun Eam, Bachlor's; Co-Author - Katreya Lovrenert, Research Associate; Co-Author - Donald Bodner, MD; Co-Author - Friedhelm Hildebrandt, MD; Co-Author - Fredrick R. Schumacher, PhD, MPH; Co-Author - Chen-Han Wilfred Wu, MD, PhD;
Meta Tag
Biochemical genetics
Databases
Genitourinary malformations
Metabolic Disorder
Polymorphism
Population Genetics
Variant Detection
Co-Author
Jad Badreddine, MD
Co-Author
Euhun Eam, Bachlor's
Co-Author
Katreya Lovrenert, Research Associate
Co-Author
Donald Bodner, MD
Co-Author
Friedhelm Hildebrandt, MD
Co-Author
Fredrick R. Schumacher, PhD, MPH
Co-Author
Chen-Han Wilfred Wu, MD, PhD
Presenting Author
Joshua Chang, Bachlor's
Keywords
cystine stones
cystinuria
heritable condition
excess excretion
urine
SLC3A1 gene
SLC7A9 gene
genetic prevalence
pathogenic variants
Hardy-Weinberg equilibrium
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