Key result
The distribution of eNOS variants showed widespread genomic diversity, with the Asp-298 variant highest in Caucasians and absent in Africans, and the eNOS 4c allele absent in Caucasians.
Cross-Sectional
There is extensive genomic diversity in the distribution of functionally significant eNOS variants among Africans, African Americans, and Caucasians, which may have implications for vascular function and sickle cell pathophysiology.
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.
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Thomas et al. (2013) reported a cross-sectional. Ethnicity (Africans, African Americans, Caucasians) vs. Compared among groups was evaluated on Distribution of functionally significant eNOS variants (T786C, Glu298Asp, and VNTR in intron 4). The distribution of eNOS variants showed widespread genomic diversity, with the Asp-298 variant highest in Caucasians and absent in Africans, and the eNOS 4c allele absent in Caucasians.
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