Expressive

rs10838692 - MADD

Magnitude 2.2 · 2 studies on file

Reported associations

  • A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci - Unknown journal (n.d.) · Unknown authors · PubMed 29891935

    ABSTRACT: Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet much of the genetic risk remains unaccounted for, especially in African-Americans who have a higher risk for developing POAG. We conduct a multiethnic genome-wide association study (GWAS) of POAG in the GERA cohort, with replication in the UK Biobank (UKB), and vice versa, GWAS in UKB with replication in GERA. We identify 24 loci (P < 5.0 × 10−8), including 14 novel, of which 9 replicate (near FMNL2, PDE7B, TMTC2, IKZF2, CADM2, DGKG, ANKH, EXOC2, and LMX1B). Functional studies support intraocular pressure-related influences of FMNL2 and LMX1B, with certain Lmx1b mutations causing high IOP and glaucoma resembling POAG in mice. The newly identified loci increase the proportion of varia

  • A large electronic health record-based genome-wide study of serum lipids - Unknown journal (n.d.) · Unknown authors · PubMed 29507422

    ABSTRACT: A genome-wide association study of 94,674 multi-ethnic Kaiser Permanente members utilizing 478,866 longitudinal untreated serum lipid electronic-health-record-derived measurements (EHRs) empowered multiple novel findings: 121 new SNP associations (46 primary, 15 conditional, 60 in meta-analysis with Global Lipids Genetic Consortium); increase of 33-42% in variance explained with multiple measurements; sex differences in genetic impact (greater in females for LDL, HDL, TC, the opposite for TG); differences in variance explained amongst non-Hispanic whites, Latinos, African Americans, and East Asians; genetic dominance and epistasis, with strong evidence for both at ABOxFUT2 for LDL; and eQTL tissue-enrichment implicating the liver, adipose, and pancreas. Utilizing EHR pharmacy dat

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Lifestyle context

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

Discuss with your doctor

  • glaucoma risk and screening plan with ophthalmologist Moderate

    Genetic predisposition from rs10838692-C increases primary open-angle glaucoma susceptibility; ophthalmologist assessment optimizes baseline measurements and monitoring strategy

Screening

  • intraocular pressure and optic nerve screening for glaucoma Moderate

    rs10838692-C allele increases primary open-angle glaucoma risk; early detection enables treatment to prevent vision loss

    comprehensive eye exam including IOP measurement and optic disc assessment at baseline and every 1-2 years