Unknown

Dataset Information

0

Extensive ethnogenomic diversity of endothelial nitric oxide synthase (eNOS) polymorphisms.


ABSTRACT: Nitric oxide (NO) is highly reactive, produced in endothelial cells by endothelial NO synthase (eNOS) and has been implicated in sickle cell pathophysiology. We evaluated the distribution of functionally significant eNOS variants (the T786C variant in the promoter region, the Glu298Asp variant in exon 7, and the variable number of tandem repeats (VNTR) in intron 4) in Africans, African Americans and Caucasians. The C-786 variant was more common in Caucasians than in Africans and African Americans. Consistent with other findings, the Asp-298 variant had the highest frequency in Caucasians followed by African Americans, but was completely absent in Africans. The very rare intron 4 allele, eNOS 4c, was found in some Africans and African Americans, but not in Caucasians. eNOS 4d allele was present in 2 Africans. These findings suggest a consistent and widespread genomic diversity in the distribution of eNOS variants in Africans, comparative to African Americans and Caucasians.

SUBMITTER: Thomas BN 

PROVIDER: S-EPMC3562081 | biostudies-other | 2013

REPOSITORIES: biostudies-other

altmetric image

Publications

Extensive ethnogenomic diversity of endothelial nitric oxide synthase (eNOS) polymorphisms.

Thomas Bolaji N BN   Thakur Tanya J TJ   Yi Li L   Guindo Aldiouma A   Diallo Dapa A DA   Ott Jurg J  

Gene regulation and systems biology 20130115


Nitric oxide (NO) is highly reactive, produced in endothelial cells by endothelial NO synthase (eNOS) and has been implicated in sickle cell pathophysiology. We evaluated the distribution of functionally significant eNOS variants (the T786C variant in the promoter region, the Glu298Asp variant in exon 7, and the variable number of tandem repeats (VNTR) in intron 4) in Africans, African Americans and Caucasians. The C-786 variant was more common in Caucasians than in Africans and African American  ...[more]

Similar Datasets

| S-EPMC10929736 | biostudies-literature
| S-EPMC6036879 | biostudies-literature
| S-EPMC3121274 | biostudies-literature
| S-EPMC3162400 | biostudies-literature
| S-EPMC4057714 | biostudies-literature
| S-EPMC3024788 | biostudies-literature
| S-EPMC4387900 | biostudies-literature
| S-EPMC3336872 | biostudies-literature
| S-EPMC6337296 | biostudies-literature
2018-12-15 | GSE123855 | GEO