rs12449170 - CFDP1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease. - American journal of epidemiology (2021) · Kim W, Prokopenko D, Sakornsakolpat P, Hobbs BD, Lutz SM, Hokanson JE, Wain LV, Melbourne CA, Shrine N, Tobin MD, Silverman EK, Cho MH, Beaty TH · PubMed 33106845

    Risk of chronic obstructive pulmonary disease (COPD) is determined by both cigarette smoking and genetic susceptibility, but little is known about gene-by-smoking interactions. We performed a genome-wide association analysis of 179,689 controls and 21,077 COPD cases from UK Biobank subjects of European ancestry recruited from 2006 to 2010, considering genetic main effects and gene-by-smoking interaction effects simultaneously (2-degrees-of-freedom (df) test) as well as interaction effects alone (1-df interaction test). We sought to replicate significant results in COPDGene (United States, 2008-2010) and SpiroMeta Consortium (multiple countries, 1947-2015) data. We considered 2 smoking variables: 1) ever/never and 2) current/noncurrent. In the 1-df test, we identified 1 genome-wide signific

  • 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.

Exercise

  • Regular aerobic exercise Moderate

    Aerobic exercise reduces arterial stiffness and improves cardiovascular function, counteracting elevated pulse pressure

    150 minutes per week moderate-intensity or 75 minutes vigorous-intensity aerobic exercise

Lifestyle

  • Smoking and tobacco products High

    Variant is associated with elevated COPD risk even in non-smokers; smoking would dramatically increase disease progression

Screening

  • Baseline respiratory function testing High

    Genetic variant is strongly associated with COPD independent of smoking status; enables early detection

    Baseline spirometry in 20s-30s, repeat annually if symptoms develop

  • Regular blood pressure and pulse pressure High

    Variant increases pulse pressure, a marker of arterial stiffness and cardiovascular event risk

    Check blood pressure at least annually and track systolic and diastolic trends