ArticleHuman genetics2015
Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease.Human molecular genetics · 2016Pooled it
- Cross-sectional and longitudinal associations of apolipoprotein A1 and B with glycosylated hemoglobin in Chinese adults.Scientific reports · 2022Trial
- Predictive value of perioperative fasting blood glucose for post pancreatectomy diabetes mellitus in pancreatic ductal carcinoma patients.World journal of surgical oncology · 2025Article
- Endocrinopathies in Hemoglobinopathies: What Is the Role of Iron?International journal of molecular sciences · 2023Review
- Article
- Dietary quality indices modify the effects of apolipoprotein B polymorphisms on biochemical and anthropometric factors in type 2 diabetes mellitus.Scientific reports · 2021Article
- Association of apolipoproteins A1 and B with type 2 diabetes and fasting blood glucose: a cross-sectional study.BMC endocrine disorders · 2021Article
- Type 2 diabetes mellitus: pathogenesis and genetic diagnosis.Journal of diabetes and metabolic disorders · 2020Review
- Increased iron stores influence glucose metabolism in sickle cell anaemia.British journal of haematology · 2020Article
- Association between clinical outcomes and metformin use in adults with sickle cell disease and diabetes mellitus.Blood advances · 2019Article
- Type 2 diabetes in adults with sickle cell disease: can we dive deeper? Response to Skinner et al.British journal of haematology · 2019Article
- Similar burden of type 2 diabetes among adult patients with sickle cell disease relative to African Americans in the U.S. population: a six-year population-based cohort analysis.British journal of haematology · 2019Article
- Sickle cell disease prevents diabetes mellitus occurrence: A hospital based cross-sectional study.Journal of family medicine and primary care · 2019Article
- Utility of the revised cardiac risk index for predicting postsurgical morbidity in Hb SC and Hb Sβ+-thalassemia sickle cell disease.American journal of hematology · 2016Article
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Authors and funding
18 authors at 8 institutions in 2 countries.
Funding
Abstract
Environmental variations have strong influences in the etiology of type 2 diabetes mellitus. In this study, we investigated the genetic basis of diabetes in patients with sickle cell disease (SCD), a Mendelian disorder accompanied by distinct physiological conditions of hypoxia and hyperactive erythropoiesis. Compared to the general African American population, the prevalence of diabetes as assessed in two SCD cohorts of 856 adults was low, but it markedly increased with older age and overweight. Meta-analyses of over 5 million single-nucleotide polymorphisms (SNPs) in the two SCD cohorts identified a SNP, rs59014890, the C allele of which associated with diabetes risk at P = 3.2 × 10(-8) and, surprisingly, associated with decreased APOB expression in peripheral blood mononuclear cells (PBMCs). The risk allele of the APOB polymorphism was associated with overweight in 181 SCD adolescents, with diabetes risk in 592 overweight, non-SCD African Americans ≥ 45 years of age, and with elevated plasma lipid concentrations in general populations. In addition, lower expression level of APOB in PBMCs was associated with higher values for percent hemoglobin A1C and serum total cholesterol and triglyceride concentrations in patients with Chuvash polycythemia, a congenital disease with elevated hypoxic responses and increased erythropoiesis at normoxia. Our study reveals a novel, environment-specific genetic polymorphism that may affect key metabolic pathways contributing to diabetes in SCD.
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