Expressive

rs10835169 - CCDC34

Magnitude 2.2 · 2 studies on file

Reported associations

  • An atlas of genetic influences on osteoporosis in humans and mice - Unknown journal (n.d.) · Unknown authors · PubMed 30598549

    ABSTRACT: Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound (eBMD) in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with eBMD, in ~1.2M individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds-ratio=58, p=10-75) from cell-specific features, including chromatin conformation and accessible chromatin sites. We next performed rapid-throughput skeletal phenotyping of 126 knockout mice lacking target genes and found an increased abnormal skeletal phenotype frequency compared to 526

  • Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction - Unknown journal (n.d.) · Unknown authors · PubMed 41419686

    ABSTRACT: Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci. We additionally performed sex-stratified and ancestry-stratified genome-wide association studies (GWASs), identifying an additional 5 sex-specific risk loci, 11 risk loci in European ancestry individuals and 1 risk locus in African ancestry individuals. We also performed a transcriptome-wide association study using expression quantitative trait loci from human aortic valves, discovering 54 new genes for which genetically predicted expression influences the risk of AS. We then generated a new polyg

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Lifestyle context

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

Discuss with your doctor

  • aortic stenosis screening plan Moderate

    rs10835169 confers 4 percent increased risk per C allele for aortic stenosis. Baseline assessment enables early detection if disease progression occurs.

    Discuss with cardiologist whether baseline echocardiogram and monitoring plan are appropriate

Exercise

  • weight-bearing exercise Moderate

    rs10835169 is associated with lower heel bone mineral density. Weight-bearing activity strengthens bone.

    150 minutes per week of weight-bearing activity such as walking, jogging, or resistance training

Supplements

  • calcium and vitamin D Moderate

    Supports bone mineral density in context of genetic predisposition to lower BMD linked to rs10835169.

    1000-1200mg calcium daily; 800-2000 IU vitamin D daily based on blood level