rs12080243 - NHLH1 - RNU4-42P

Magnitude 2.2 · 2 studies on file

Reported associations

  • Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits - Unknown journal (n.d.) · Unknown authors · PubMed 33623009

    ABSTRACT: Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits from the population of Qatar using a whole genome sequencing approach in a discovery set of 6218 individuals and replication in 7768 subjects. Trait heritability is more similar between Qatari and European populations (r = 0.81) than with Africans (r = 0.44). We identify 281 distinct variant-trait-associations at genome wide significance that replicate known associations. Allele frequencies for replicated loci show higher correlations with European (r = 0.94) than with African (r = 0.85) or Japanese (r = 0.80) populations. We find differenc

  • Multi-trait GWAS for diverse ancestries: mapping the knowledge gap - Unknown journal (n.d.) · Unknown authors · PubMed 38627641

    ABSTRACT: Background Approximately 95% of samples analyzed in univariate genome-wide association studies (GWAS) are of European ancestry. This bias toward European ancestry populations in association screening also exists for other analyses and methods that are often developed and tested on European ancestry only. However, existing data in non-European populations, which are often of modest sample size, could benefit from innovative approaches as recently illustrated in the context of polygenic risk scores. Methods Here, we extend and assess the potential limitations and gains of our multi-trait GWAS pipeline, JASS (Joint Analysis of Summary Statistics), for the analysis of non-European ancestries. To this end, we conducted the joint GWAS of 19 hematological traits and glycemic traits acro


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • white blood cell count via CBC Moderate

    T allele associated with lower white blood cell count and reduced basophil numbers, affecting immune baseline

    Obtain baseline CBC; discuss with doctor if WBC or basophils are in lower-normal range