rs11609503 - ATP2B1

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

• High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study - Unknown journal (n.d.) · Unknown authors · PubMed 35762941

  ABSTRACT: Purpose To test for causality with regard to the association between blood pressure (BP) and intraocular pressure (IOP) and glaucoma. Methods Single nucleotide polymorphisms (SNPs) associated with BP were identified in a genome-wide association study (GWAS) meta-analysis of 526,001 participants of European ancestry. These SNPs were used to assess the BP versus IOP relationship in a distinct sample (n = 70,832) whose corneal-compensated IOP (IOPcc) was measured. To evaluate the BP versus primary open-angle glaucoma (POAG) relationship, additional Mendelian randomization (MR) analyses were conducted using published GWAS summary statistics. Results Observational analysis revealed a linear relationship between BP traits and IOPcc, with a +0.28 mm Hg increase in IOPcc per 10-mm Hg inc

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