Novel variants detected in AGT gene among patients with essential hypertension.
BACKGROUND
AGT is the first gene to be linked to essential hypertension (EHT). It harbors several variants of which only few polymorphisms are found to exhibit positive and negative associations with hypertension. In the present study, the AGT gene was screened to detect already reported and novel variations contributing to the development of hypertension.


METHODS
In total, 215 hypertensives and 230 normotensives were screened for variations in all the five exons and a part of promoter of AGT gene using single strand conformation polymorphism analysis followed by sequencing of samples showing mobility shifts on polyacrylamide gels.


RESULTS
Five novel variants, namely c.-61G>A in promoter, c.-4+17C>T in intron1, c.24T>C and c.28A>T in Exon2, and c.*90 T>C in 3' untranslated region were detected in the AGT gene. c.-61G>A lies in the promoter region that plays a critical role in its expression. Variation c.-4+17C>T created a new enhancer site. c.24T>C (TCT-TCC) is a silent mutation while c.28A>T (p. M10L) has a possible damaging effect on the AGT protein. c.*90T>C, detected in the 3' untranslated region is thought to play an important role in the translation and stability of the mRNA.


CONCLUSIONS
Studies on the functional role of these novel variants are warranted to understand the mechanism underlying the development of EHT.
Department of Genetics, Osmania University, Tarnaka, Hyderabad, India.
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Padma
Sandor Proteomics Pvt Ltd, Hyderabad, India.
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Charita
Department of Genetics, Osmania University, Tarnaka, Hyderabad, India.
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Swapna
Department of Genetics, Osmania University, Tarnaka, Hyderabad, India.
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Mamata
Department of Genetics, Osmania University, Tarnaka, Hyderabad, India padmatirunilai@gmail.com.
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Padma
D000483:Alleles; D000808:Angiotensinogen / Q000235:genetics*; D000075222:Essential Hypertension; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic
D000808:Angiotensinogen
Novel variants; SSCP; angiotensinogen (AGT); essential hypertension; promoter