ArticleBMC genomics2010
Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus.
Article in BMC genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 61 citations in OpenAlex.
- Genotype frequency analysis of rs2025804Journal of diabetes and metabolic disorders · 2025Article
- varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.Bioinformatics (Oxford, England) · 2023Article
- Short Chain Fatty Acid Metabolism in Relation to Gut Microbiota and Genetic Variability.Nutrients · 2022Review
- Polymorphisms, diet and nutrigenomics.Journal of preventive medicine and hygiene · 2022Review
- Copy number variation of the CCDC39 gene is associated with growth traits in Chinese cattle.Veterinary medicine and science · 2022Article
- Distribution of Copy Number Variation in SYT11 Gene and Its Association with Growth Conformation Traits in Chinese Cattle.Biology · 2022Article
- Endospanin Is a Candidate for Regulating Leptin Sensitivity.Frontiers in physiology · 2021Article
- Copy number variants in lipid metabolism genes are associated with gallstones disease in men.European journal of human genetics : EJHG · 2020Article
- Multi-omic analysis of signalling factors in inflammatory comorbidities.BMC bioinformatics · 2018Article
- Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population.BMC genomics · 2017Article
- Obesity and microbiota: an example of an intricate relationship.Genes & nutrition · 2017Review
- Whole-genome sequencing reveals mutational landscape underlying phenotypic differences between two widespread Chinese cattle breeds.PloS one · 2017Article
- Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children.BioMed research international · 2017Article
- On the Molecular Evolution of Leptin, Leptin Receptor, and Endospanin.Frontiers in endocrinology · 2017Article
- Neuroendocrinological and Epigenetic Mechanisms Subserving Autonomic Imbalance and HPA Dysfunction in the Metabolic Syndrome.Frontiers in neuroscience · 2016Review
- Detection of CAPN10 copy number variation in Thai patients with type 2 diabetes by denaturing high performance liquid chromatography and real-time quantitative polymerase chain reaction.Journal of diabetes investigation · 2015Article
- Connecting Anxiety and Genomic Copy Number Variation: A Genome-Wide Analysis in CD-1 Mice.PloS one · 2015Article
- Magnolia officinalis Extract Contains Potent Inhibitors against PTP1B and Attenuates Hyperglycemia in db/db Mice.BioMed research international · 2015Article
- Comparative endocrinology of leptin: assessing function in a phylogenetic context.General and comparative endocrinology · 2014Review
- The Role of Copy Number Variation in African Americans with Type 2 Diabetes-Associated End Stage Renal Disease.Journal of molecular and genetic medicine : an international journal of biomedical research · 2013Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes. Mutations and genetic variations of LEPR gene have been discovered in rodents and humans. However, the association of DNA copy number variations at the LEPR gene locus with human complex diseases has not been reported. In an attempt to study DNA copy number variations associated with metabolic traits and type 2 diabetes mellitus (T2DM), we targeted the LEPR gene locus in DNA copy number analyses.
resultsWe identified DNA copy number variations at the LEPR gene locus among a Korean population using genome-wide SNP chip data, and then quantified copy numbers of the E2 DNA sequence in the first two exons overlapped between LEPR and LEPROT genes by the quantitative multiplex PCR of short fluorescent fragment (QMPSF) method. Among the non-diabetic subjects (n = 1,067), lower E2 DNA copy numbers were associated with higher fasting glucose levels in men (p = 1.24 x 10(-7)) and women (p = 9.45 x 10(-5)), as well as higher total cholesterol levels in men (p = 9.96 x 10(-7)). In addition, the significant association between lower E2 DNA copy numbers and lower level of postprandial 2 hr insulin was evident only in non-diabetic women, whereas some obesity-related phenotypes and total cholesterol level exhibited significant associations only in non-diabetic men. Logistic regression analysis indicated that lower E2 DNA copy numbers were associated with T2DM (odds ratio, 1.92; 95% CI, 1.26-2.96; p < 0.003) in our nested case-control study. Interestingly, the E2 DNA copy number exhibited a negative correlation with LEPR gene expression, but a positive correlation with LEPROT gene expression.
conclusionsThis work suggests that a structural variation at the LEPR gene locus is functionally associated with complex metabolic traits and the risk of T2DM.
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