rs12264186 - RN7SL825P - KIF5B

Magnitude 2.2 · 2 studies on file

Reported associations

  • A cross-population atlas of genetic associations for 220 human phenotypes. - Nature genetics (2021) · Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y · PubMed 34594039

    Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 deep-phenotype genome-wide association studies (diseases, biomarkers and medication usage) in BioBank Japan (n = 179,000), by incorporating past medical history and text-mining of electronic medical records. Meta-analyses with the UK Biobank and FinnGen (n = 628,000) identified ~5,000 new loci, which improved the resolution of the genomic map of human traits. This atlas elucidated the landscape of pleiotropy as represented by the major histocompatibility complex locus, where we conducted HLA fine-mapping. Finally, we performed statistical decomposition of matrices of phenome-wid

  • Trans-ethnic association study of blood pressure determinants in over 750,000 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 30578418

    ABSTRACT: In this trans-ethnic multi-omic study we reinterpret the genetic architecture of blood pressure to identify genes, tissues, phenome, and medication contexts of blood pressure homeostasis. We discovered 208 novel common blood pressure SNPs and 53 rare variants in GWASs of systolic, diastolic and pulse pressure in up to 776,078 participants from the Million Veteran Program (MVP) and collaborating studies, with analysis of the blood pressure clinical phenome in MVP. Our transcriptome-wide association study detected 4,043 blood pressure associations with genetically-predicted gene expression of 840 genes in 45 tissues, and murine renal single-cell RNA sequencing identified upregulated blood pressure genes in kidney tubule cells. Editorial summary: Analysis of blood pressure data from


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Lifestyle context

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

Diet

  • limit dietary sodium for blood pressure management Moderate

    The rs12264186-T allele increases pulse pressure; high dietary sodium further elevates arterial stiffness and pulse pressure, particularly in genetically predisposed individuals.

    Limit sodium to less than 2300 mg per day, ideally 1500 mg or less

Discuss with your doctor

  • rs12264186-associated cardiovascular risk High

    Strong GWAS evidence from 450000+ subjects shows rs12264186-T increases pulse pressure, a major cardiovascular disease risk factor requiring personalized management.

    Discuss genetic findings and cardiovascular risk management strategies with healthcare provider

Exercise

  • regular aerobic exercise Moderate

    The rs12264186-T allele affects KIF5B expression in cardiac and skeletal muscle tissue; aerobic exercise reduces pulse pressure and arterial stiffness.

    150 minutes moderate-intensity aerobic exercise per week

Screening

  • pulse pressure and blood pressure screening High

    rs12264186-T is associated with elevated pulse pressure in large cohorts; this genetic variant increases cardiovascular risk through KIF5B-mediated vascular function.

    Annual blood pressure and pulse pressure measurement; more frequent if elevated