ArticleNature communications2015
Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
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- Unraveling time-dependent genetic components underlying alcohol response.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2025Article
- Population serum proteomics uncovers a prognostic protein classifier for metabolic syndrome.Cell reports. Medicine · 2023Article
- Glucokinase regulatory protein: a balancing act between glucose and lipid metabolism in NAFLD.Frontiers in endocrinology · 2023Review
- Understanding the complex genetic architecture connecting rheumatoid arthritis, osteoporosis and inflammation: discovering causal pathways.Human molecular genetics · 2022Article
- Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.Communications biology · 2022Article
- Gender Differences in Smoking Initiation and Cessation Associated with the Intergenerational Transfer of Smoking across Three Generations: The Nagahama Study.International journal of environmental research and public health · 2022Article
- Association between serum α1-antitrypsin levels and all-cause mortality in the general population: the Nagahama study.Scientific reports · 2021Article
- Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study.Diabetology & metabolic syndrome · 2021Article
- An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.Genome medicine · 2021Article
- A mutant α1antitrypsin in complex with heat shock proteins as the primary antigen in type 1 diabetes in silico investigation.Scientific reports · 2021Article
- An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.medRxiv : the preprint server for health sciences · 2020Article
- ALDH2 rs671 polymorphism and the risk of heart failure with preserved ejection fraction (HFpEF) in patients with cardiovascular diseases.Journal of human hypertension · 2020Article
- Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin.Molecular genetics & genomic medicine · 2019Article
- A decade in psychiatric GWAS research.Molecular psychiatry · 2019Review
- Elevated serum alpha-1 antitrypsin is a major component of GlycA-associated risk for future morbidity and mortality.PloS one · 2019Article
- Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.Human genomics · 2018Article
- Distinct gene signatures predict insulin resistance in young mice with high fat diet-induced obesity.Physiological genomics · 2018Article
- Family-based genome-wide association of inflammation biomarkers and fenofibrate treatment response in the GOLDN study.BMC proceedings · 2018Article
- Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.Journal of cellular and molecular medicine · 2017Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1 antitrypsin (AAT) encoded by SERPINA1 is an acute-phase inflammation marker, and AAT deficiency (AATD) is known as one of the common genetic disorders in European populations. However, no genetic determinants to AAT levels apart from the SERPINA gene clusters have been identified to date. Here we perform a genome-wide association study of serum AAT levels followed by a two-staged replication study recruiting a total of 9,359 Japanese community-dwelling population. Three missense variants of metabolic syndrome-related genes, namely, rs671 in ALDH2, rs1169288 in HNF1A and rs1260326 in GCKR, significantly associate with AAT levels (P≤1.5 × 10(-12)). Previous reports have shown the functional relevance of ALDH2 and HNF1A to AAT. We observe a significant interaction of rs671 and alcohol consumption on AAT levels. We confirm the association between AAT and rs2896268 in SERPINA1, which is independent of known causative variants of AATD. These findings would support various AAT functions including metabolic processes.
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