rs116946461 - PCBP3

Magnitude 2.2 · 2 studies on file

Reported associations

• Genome-wide association analyses identify new loci influencing intraocular pressure. - Human molecular genetics (2019) · Gao XR, Huang H, Nannini DR, Fan F, Kim H · PubMed 29617998

  Elevated intraocular pressure (IOP) is a significant risk factor for glaucoma, the leading cause of irreversible blindness worldwide. While previous studies have identified numerous genetic variants associated with IOP, these loci only explain a fraction of IOP heritability. Recently established of biobank repositories have resulted in large amounts of data, enabling the identification of the remaining heritability for complex traits. Here, we describe the largest genome-wide association study of IOP to date using participants of European ancestry from the UK Biobank. We identified 671 directly genotyped variants that are significantly associated with IOP (P < 5 × 10-8). In addition to 103 novel loci, the top ranked novel IOP genes are LMX1B, NR1H3, MADD and SEPT9. We replicated t

• Genome-Wide Association Analysis of Single-Breath Dl . - American journal of respiratory cell and molecular biology (2019) · Sakornsakolpat P, McCormack M, Bakke P, Gulsvik A, Make BJ, Crapo JD, Cho MH, Silverman EK · PubMed 30694715

  Dl is a widely used pulmonary function test in clinical practice and a particularly useful measure for assessing patients with chronic obstructive pulmonary disease (COPD). We hypothesized that elucidating genetic determinants of Dl could lead to better understanding of the genetic architecture of COPD. We estimated the heritability of Dl using common genetic variants and performed genome-wide association analyses in four cohorts enriched for subjects with COPD (COPDGene [Genetic Epidemiology of COPD], NETT [National Emphysema Treatment Trial], GenKOLS [Genetics of Chronic Obstructive Lung Disease study], and TESRA [Treatment of Emphysema With a Gamma-Selective Retinoid Agonist study]) using a combined European ancestry white dataset and a COPDGene African American dataset. We assessed our

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