rs1166813 - UBE2V1P16 - RPL3P12

Magnitude 4.5 · 1 study on file

Reported associations

• Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28 Day Mortality - Unknown journal (n.d.) · Unknown authors · PubMed 27639821

  ABSTRACT: Sepsis is the dysregulated host response to an infection which leads to life-threatening organ dysfunction that varies by host genomic factors. We conducted a genome-wide association study (GWAS) in 740 adult septic patients and focused on 28 day mortality as outcome. Variants with suggestive evidence for an association (p ≤ 10− 5) were validated in two additional GWA studies (n = 3470) and gene coding regions related to the variants were assessed in an independent exome sequencing study (n = 74). In the discovery GWAS, we identified 243 autosomal variants which clustered in 14 loci (p ≤ 10− 5). The best association signal (rs117983287; p = 8.16 × 10− 8) was observed for a missense variant located at chromosome 9q21.2 in the VPS13A gene. VPS13A was furt

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