Human SA gene locus as a candidate locus for essential hypertension

Area of Science:

• Genetics
• Hypertension Research
• Molecular Biology

Background:

• A candidate gene for rat genetic hypertension was previously identified based on kidney mRNA expression differences.
• Cosegregation analyses in F2 cohorts demonstrated the SA gene's significant effect on blood pressure in rats.

Purpose of the Study:

• To isolate the human counterpart of the rat SA gene.
• To investigate the association between the human SA gene and essential hypertension.

Main Methods:

• Isolated human SA cDNA and determined its amino acid sequence, noting homology to bacterial acetyl-coenzyme A synthase.
• Mapped the human SA gene to chromosome 16 using a rodent/human somatic cell hybrid panel.
• Conducted restriction fragment length polymorphism (RFLP) analysis with Pst I and compared allele frequencies between hypertensive and normotensive groups.

Main Results:

• The human SA gene encodes a 578-amino acid protein with slight homology to bacterial acetyl-coenzyme A synthase.
• The human SA gene was localized to chromosome 16.
• A significant difference in the Pst I rare allele (A2) frequency was observed between 89 hypertensive individuals (0.270) and 81 normotensive controls (0.09) (P = .0001).

Conclusions:

• The human SA gene is a strong candidate gene for essential hypertension.
• These findings provide a basis for future research into the SA gene's role in human hypertension.