Expressive

rs104893941 - SQSTM1, MRNIP

Magnitude 4.5 · 1 study on file

Reported associations

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

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Lifestyle context

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

Diet

  • Calcium-rich foods Moderate

    Adequate calcium supports bone mineral density in individuals at genetic risk for Paget disease.

    1000-1200 mg elemental calcium daily from dairy, leafy greens, fortified foods.

Discuss with your doctor

  • Paget disease risk assessment and screening strategy High

    SQSTM1 variants are strongly associated with Paget disease; clinician assessment personalizes screening and intervention.

Exercise

  • Weight-bearing exercise Moderate

    Mechanical loading strengthens bone and may reduce disease progression in genetically predisposed individuals.

    150 minutes per week of weight-bearing activity (walking, running, resistance training).

Screening

  • Paget disease screening with alkaline phosphatase High

    SQSTM1 genetic variants strongly associated with Paget disease of bone; early detection enables timely intervention.

    Annual alkaline phosphatase testing; imaging if symptoms or elevated ALP.

Supplements

  • Vitamin D supplementation Moderate

    Vitamin D deficiency is associated with increased bone disease risk; relevant for SQSTM1-variant carriers.

    800-2000 IU daily; target serum 25-OH vitamin D 30-50 ng/mL.