Expressive

rs1245582 - CHST3 - SPOCK2

Magnitude 2.8 · 2 studies on file

Reported associations

  • Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. - The Journal of clinical investigation (2014) · Song YQ, Karasugi T, Cheung KM, Chiba K, Ho DW, Miyake A, Kao PY, Sze KL, Yee A, Takahashi A, Kawaguchi Y, Mikami Y, Matsumoto M, Togawa D, Kanayama M, Shi D, Dai J, Jiang Q, Wu C, Tian W, Wang N, Leong JC, Luk KD, Yip SP, Cherny SS, Wang J, Mundlos S, Kelempisioti A, Eskola PJ, Männikkö M, Mäkelä P, Karppinen J, Järvelin MR, O'Reilly PF, Kubo M, Kimura T, Kubo T, Toyama Y, Mizuta H, Cheah KS, Tsunoda T, Sham PC, Ikegawa S, Chan D · PubMed 24216480

    Lumbar disc degeneration (LDD) is associated with both genetic and environmental factors and affects many people worldwide. A hallmark of LDD is loss of proteoglycan and water content in the nucleus pulposus of intervertebral discs. While some genetic determinants have been reported, the etiology of LDD is largely unknown. Here we report the findings from linkage and association studies on a total of 32,642 subjects consisting of 4,043 LDD cases and 28,599 control subjects. We identified carbohydrate sulfotransferase 3 (CHST3), an enzyme that catalyzes proteoglycan sulfation, as a susceptibility gene for LDD. The strongest genome-wide linkage peak encompassed CHST3 from a Southern Chinese family-based data set, while a genome-wide association was observed at rs4148941 in the gene in a me

  • Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk - Unknown journal (n.d.) · Unknown authors · PubMed 41419685

    ABSTRACT: The genetic influences on normal aortic valve function and their impact on aortic stenosis risk are of substantial interest. We used deep learning to measure peak velocity, mean gradient and aortic valve area from magnetic resonance imaging and conducted genome-wide association studies (GWAS) in 59,571 participants in the UK Biobank. Incorporating the aortic valve measurement GWAS with aortic stenosis GWAS using multitrait analysis of GWAS (MTAG), we identified 166 distinct loci (134 with aortic valve traits, 134 with aortic stenosis and 166 unique loci across all GWAS), including PCSK9 and LDLR. The MTAG aortic stenosis PGS was associated with aortic stenosis in All of Us (hazard ratio (HR) = 3.32 for top 5% versus all others, P = 8.8 × 10−22) and Mass General Bri

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Lifestyle context

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

Discuss with your doctor

  • spinal and cardiac screening based on genetic associations Moderate

    Multiple genome-wide significant associations for musculoskeletal and cardiovascular traits warrant clinical counseling

Exercise

  • core stabilization training Moderate

    CHST3 regulates cartilage sulfation and extracellular matrix; lumbar disc degeneration risk increases intradiscal loading

    20-30 minutes of core exercises 3-4 times per week

Screening

  • aortic valve echocardiography Moderate

    Strong genome-wide association with aortic stenosis (p=2e-12, n>1.9M); effect size 0.025 per risk allele C

    Baseline transthoracic echocardiography at age 50, repeat every 5 years

  • lumbar spine imaging for disc degeneration Moderate

    Genome-wide significant association with lumbar disc degeneration risk detected (p=1e-6)

    Consider baseline MRI or CT at age 40, repeat if symptoms develop