Expressive

rs10489858 - MICOS10-NBL1, NBL1, MICOS10

Magnitude 4.5 · 2 studies on file

Reported associations

  • A saturated map of common genetic variants associated with human height - Unknown journal (n.d.) · Unknown authors · PubMed 36224396

    ABSTRACT: Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation

  • Genome-wide association study of lung function and clinical implication in heavy smokers - Unknown journal (n.d.) · Unknown authors · PubMed 30068317

    ABSTRACT: Background The aim of this study is to identify genetic loci associated with post-bronchodilator FEV1/FVC and FEV1, and develop a multi-gene predictive model for lung function in COPD. Methods Genome-wide association study (GWAS) of post-bronchodilator FEV1/FVC and FEV1 was performed in 1645 non-Hispanic White European descent smokers. Results A functional rare variant in SERPINA1 (rs28929474: Glu342Lys) was significantly associated with post-bronchodilator FEV1/FVC (p = 1.2 × 10− 8) and FEV1 (p = 2.1 × 10− 9). In addition, this variant was associated with COPD (OR = 2.3; p = 7.8 × 10− 4) and severity (OR = 4.1; p = 0.0036). Heterozygous subjects (CT genotype) had significantly lower lung function and higher percentage of COPD an

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Lifestyle context

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

Lifestyle

  • smoking and tobacco product use Moderate

    C allele carriers show significantly worse FEV1 in smokers, indicating heightened vulnerability to smoking-induced respiratory damage

    Avoid smoking; if current smoker, cessation is prioritized given genotype-specific respiratory risk

Screening

  • baseline and periodic lung function assessment Moderate

    C allele is associated with reduced post-bronchodilator FEV1, suggesting lower baseline respiratory capacity

    Baseline spirometry; consider repeat testing every 1-2 years or with respiratory symptoms