ArticlePloS one2011
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.Scientific reports · 2016Pooled it
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Substrates, regulation, cellular functions, and disease associations of P4-ATPases.Communications biology · 2025Review
- Flipping the script: Advances in understanding how and why P4-ATPases flip lipid across membranes.Biochimica et biophysica acta. Molecular cell research · 2024Review
- Deficiency of the lipid flippase ATP10A causes diet-induced dyslipidemia in female mice.Scientific reports · 2024Article
- ATP10A deficiency results in male-specific infertility in mice.Frontiers in cell and developmental biology · 2024Article
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- Lipid Transport byInfection and immunity · 2022Article
- Genetic association tests in family samples for multi-category phenotypes.BMC genomics · 2021Article
- Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits.Genome medicine · 2021Article
- An atlas of CNV maps in cattle, goat and sheep.Science China. Life sciences · 2021Article
- The phosphatidylserine flippase β-subunit Tmem30a is essential for normal insulin maturation and secretion.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Observational
- Exofacial membrane composition and lipid metabolism regulates plasma membrane P4-ATPase substrate specificity.The Journal of biological chemistry · 2020Article
- A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.Human molecular genetics · 2019Article
- Host genetic determinants of the gut microbiota of wild mice.Molecular ecology · 2019Article
- The PQ-loop protein Any1 segregates Drs2 and Neo1 functions required for viability and plasma membrane phospholipid asymmetry.Journal of lipid research · 2019Article
- Yeast and human P4-ATPases transport glycosphingolipids using conserved structural motifs.The Journal of biological chemistry · 2019Article
- Integrative Analysis of CD133 mRNA in Human Cancers Based on Data Mining.Stem cell reviews and reports · 2019Review
- Genetic Variants Related to Cardiometabolic Traits Are Associated to B Cell Function, Insulin Resistance, and Diabetes Among AmeriCan Indians: The Strong Heart Family Study.Frontiers in genetics · 2018Article
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Authors and funding
14 authors at 7 institutions in 1 country.
Funding
Abstract
African Americans have been understudied in genome wide association studies of diabetes and related traits. In the current study, we examined the joint association of single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) with fasting insulin and an index of insulin resistance (HOMA-IR) in the HyperGEN study, a family based study with proband ascertainment for hypertension. This analysis is restricted to 1,040 African Americans without diabetes. We generated allele specific CNV genotypes at 872,243 autosomal loci using Birdsuite, a freely available multi-stage program. Joint tests of association for SNPs and CNVs were performed using linear mixed models adjusting for covariates and familial relationships. Our results highlight SNPs associated with fasting insulin and HOMA-IR (rs6576507 and rs8026527, 3.7*10(-7)≤P≤1.1*10(-5)) near ATPase, class V, type 10A (ATP10A), and the L Type voltage dependent calcium channel (CACNA1D, rs1401492, P≤5.2*10(-6)). ATP10A belongs to a family of aminophospholipid-transporting ATPases and has been associated with type 2 diabetes in mice. CACNA1D has been linked to pancreatic beta cell generation in mice. The two most significant copy variable markers (rs10277702 and rs361367; P<2.0*10(-4)) were in the beta variable region of the T-cell receptor gene (TCRVB). Human and mouse TCR has been shown to mimic insulin and its receptor and could contribute to insulin resistance. Our findings differ from genome wide association studies of fasting insulin and other diabetes related traits in European populations, highlighting the continued need to investigate unique genetic influences for understudied populations such as African Americans.
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