NDLI: Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease

Content Provider	Springer Nature Link
Author	Zhang, Xu Zhang, Wei Saraf, Santosh L. uraie, Mehdi Han, Jin Gowhari, Michel Hassan, Johara Miasnikova, Galina Sergueeva, Adelina Nekhai, Sergei Kittles, Rick Machado, Roberto F. Garcia, Joe G. N. Gladwin, Mark T. Steinberg, Martin H. Sebastiani, Paola McClain, Donald A. Gordeuk, Victor R.
Copyright Year	2015
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.
Starting Page	895
Ending Page	904
Page Count	10
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	134
Issue Number	8
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2015-05-30
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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