rs11623972 - DPF3 - DCAF4
Magnitude 2.2 · 2 studies on file
Reported associations
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A genome-wide association study implicates the pleiotropic effect of NMUR2 on asthma and COPD - Unknown journal (n.d.) · Unknown authors · PubMed 36543808
ABSTRACT: Asthma and chronic obstructive pulmonary disease (COPD) are two distinct diseases that are associated with chronic inflammation. They share common features in terms of their advanced stages and genetic factors. This study aimed to identify novel genes underlying both asthma and COPD using genome-wide association study (GWAS) to differentiate between the two diseases. We performed a GWAS of asthma and COPD in 7828 Koreans from three hospitals. In addition, we investigated genetic correlations. The UK Biobank dataset was used for the replication studies. We found that rs2961757, located near neuromedin U receptor 2 (NMUR2) on chromosome 5, was genome-wide significant ( = 0.44, P-valueAsthma-COPD = 3.41 × 10−8), and significant results were replicated with the UK Biobank
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Participation bias in the UK Biobank distorts genetic associations and downstream analyses - Unknown journal (n.d.) · Unknown authors · PubMed 37106081
ABSTRACT: While volunteer-based studies such as the UK Biobank have become the cornerstone of genetic epidemiology, the participating individuals are rarely representative of their target population. To evaluate the impact of selective participation, here we derived UK Biobank participation probabilities on the basis of 14 variables harmonized across the UK Biobank and a representative sample. We then conducted weighted genome-wide association analyses on 19 traits. Comparing the output from weighted genome-wide association analyses (neffective = 94,643 to 102,215) with that from standard genome-wide association analyses (n = 263,464 to 283,749), we found that increasing representativeness led to changes in SNP effect sizes and identified novel SNP associations for 12 traits. While
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