Expressive

rs10810888 - ADAMTSL1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse - Unknown journal (n.d.) · Unknown authors · PubMed 35739095

    ABSTRACT: Pelvic organ prolapse is a common gynecological condition with limited understanding of its genetic background. In this work, we perform a genome-wide association meta-analysis comprising 28,086 cases and 546,291 controls from European ancestry. We identify 19 novel genome-wide significant loci, highlighting connective tissue, urogenital and cardiometabolic as likely affected systems. Here, we prioritize many genes of potential interest and assess shared genetic and phenotypic links. Additionally, we present the first polygenic risk score, which shows similar predictive ability (Harrell C-statistic (C-stat) 0.583, standard deviation (sd) = 0.007) as five established clinical risk factors combined (number of children, body mass index, ever smoked, constipation and asthma) (C-s

  • Genome-wide association studies for pelvic organ prolapse in the Japanese population - Unknown journal (n.d.) · Unknown authors · PubMed 39349682

    ABSTRACT: Pelvic organ prolapse (POP) affects approximately 40% of elderly women, characterized by the descent of the pelvic organs into the vaginal cavity. Here we present the results of a genome-wide association study (GWAS) for susceptibility to POP comprising 771 cases and 76,625 controls in the Japanese population. We identified a significant association of WT1 locus with POP in the Japanese population; rs10742277; odds ratio (OR) = 1.48, 95% confidence interval (CI), 1.29-1.68, P = 6.72 × 10−9. Subsequent cross-ancestry GWAS meta-analysis combining the Japanese data and previously reported European data, including 28,857 cases and 622,916 controls, identified FGFR2 locus as a novel susceptibility locus to POP (rs7072877; OR = 1.06, 95% CI, 1.04-1.08, P = 4.

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Lifestyle context

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

Discuss with your doctor

  • pelvic organ prolapse risk and screening options High

    G allele at rs10810888 in ADAMTSL1 increases pelvic organ prolapse risk by approximately 5 percent per allele, replicated across two large population cohorts (651k and 574k participants).

    Discuss baseline POP risk factors and age-appropriate screening or risk monitoring strategy with healthcare provider

Exercise

  • pelvic floor physical therapy assessment Moderate

    Pelvic floor muscle strength training reduces symptomatic prolapse progression and is particularly indicated for those with genetic predisposition to connective tissue weakness from ADAMTSL1 variants.

    Request referral to pelvic floor physical therapist for individualized preventive assessment and exercise programming

Lifestyle

  • maintain healthy weight and avoid heavy lifting Moderate

    Obesity and repetitive intra-abdominal pressure loading compound genetic risk by increasing pelvic floor mechanical stress in individuals with reduced connective tissue integrity.

    Target BMI under 30 per healthcare provider guidance; avoid heavy lifting and chronic straining when possible