Expressive

rs1004317 - AQP1

Magnitude 2.2 · 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

  • Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations - Unknown journal (n.d.) · Unknown authors · PubMed 37787550

    ABSTRACT: Visual Abstract Significance Statement Kidney stone disease is a common disorder with poorly understood pathophysiology. Observational and genetic studies indicate that adiposity is associated with an increased risk of kidney stone disease. However, the relative contribution of general and central adipose depots and the mechanisms by which effects of adiposity on kidney stone disease are mediated have not been defined. Using conventional and genetic epidemiological techniques, we demonstrate that general and central adiposity are independently associated with kidney stone disease. In addition, one mechanism by which central adiposity increases risk of kidney stone disease is by increasing serum calcium concentration. Therapies targeting adipose depots may affect calcium homeostas

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Lifestyle context

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

Bloodwork

  • serum calcium concentration Moderate

    Serum calcium is a key mediator of the obesity-kidney stone pathway; elevated levels increase risk of stone formation.

    Check annually or per doctor recommendations, especially if central adiposity is elevated.

Discuss with your doctor

  • kidney stone risk assessment and prevention strategies Moderate

    AQP1 rs1004317 G allele is genetically associated with increased kidney stone disease risk, likely through effects on renal water and ion handling.

Lifestyle

  • central adiposity (waist circumference and waist-hip ratio) Moderate

    Central adiposity causally increases kidney stone risk through elevated serum calcium; this modifiable pathway is particularly relevant for genetic risk carriers.

    Maintain healthy waist-to-hip ratio and waist circumference through diet and exercise.