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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Sequence variants associating with urinary biomarkers.

Stefania Benonisdottir1, Ragnar P Kristjansson1, Asmundur Oddsson1

  • 1deCODE genetics/Amgen Inc., Reykjavik, Iceland.

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Summary
This summary is machine-generated.

Genetic variations influence urine test results for common conditions like glucosuria and proteinuria. This study identified 20 genetic associations, revealing a link between genetic diversity and urinary biomarker variability.

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Area of Science:

  • Genetics
  • Biomarkers
  • Urology

Background:

  • Urine dipstick tests are crucial for diagnosing kidney, urinary tract, and metabolic diseases.
  • Environmental factors impact urine test results, but the role of genetic diversity remains largely unexplored.

Purpose of the Study:

  • To investigate the association between genetic variants and urinary biomarkers measured by dipstick tests.
  • To identify genetic factors influencing common urinary conditions.

Main Methods:

  • Analysis of 32.5 million sequence variants in 150,274 Icelanders with urine dipstick measurements.
  • Genome-wide association study to detect signals for glucosuria, ketonuria, proteinuria, hematuria, and urine pH.

Main Results:

  • Identified 20 significant association signals, with 14 being novel.
  • Discovered genetic variants in SLC5A2 (SGLT2), LRP2, CUBN, and COL4A3 associated with urinary biomarkers.
  • Found associations between urine pH variants and kidney stone risk.

Conclusions:

  • Genetic factors significantly contribute to the variability of urinary biomarkers.
  • Genetic associations were found for multiple clinical entities, impacting disease diagnosis and risk assessment.