Expressive

rs111997200 - CLPTM1

Magnitude 2.2 · 2 studies on file

Reported associations

  • A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its genetic relationship with cholesterol metabolism - Unknown journal (n.d.) · Unknown authors · PubMed 39747571

    ABSTRACT: High-sensitivity C-reactive protein (hsCRP) is a representative biomarker of systemic inflammation and is associated with numerous chronic diseases. To explore the biological pathways and functions underlying chronic inflammation, we conducted a genome-wide association study (GWAS) and several post-GWAS analyses of the hsCRP levels. This study was performed on data from 71,019 Koreans and is one of the largest East Asian studies. Overall, 69 independent single nucleotide polymorphisms (SNPs) were identified, including 13 novel variants. The implicated genes and pathways are primarily involved in cholesterol metabolism and the immune response. A phenome-wide association study was performed based on a polygenic risk score (PRS) constructed using 69 hsCRP-associated SNPs. Notably, t

  • GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - Unknown journal (n.d.) · Unknown authors · PubMed 40545721

    ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

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Lifestyle context

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

Diet

  • saturated fat intake relative to guidelines High

    variant is strongly associated with elevated blood saturated fatty acids, indicating altered lipid metabolism

    monitor to less than 10% of daily calories as per standard guidelines

Screening

  • hsCRP and cardiovascular markers Moderate

    variant is associated with elevated high-sensitivity C-reactive protein, an inflammatory marker of cardiovascular disease risk

    baseline hsCRP test and periodic monitoring per physician guidance