Key result
The genetic variant C-5312T changes the binding pattern of Sp1 to the renin enhancer, shifting it downstream and likely influencing Sp1 activity to stimulate renin gene expression.
Observational (n=34)
The C-5312T polymorphism in the renin distal enhancer alters Sp1 binding, potentially reducing renin gene transcription in hypertensive patients.
Hypothesis-generating for renin enhancer variants in hypertension; leaves open human validation and clinical relevance.
Renin distal enhancer plays a pivotal role in renin gene expression, and the genetic variants C-5312T of renin enhancer can affect renin gene transcription level. However, the mechanism associated with the transcription level changes remains unknown. Therefore, it is of interest to investigate the possible role of distal enhancer in regulating the expression of renin gene. Single nucleotide polymorphism in renin distal enhancer was identified in 34 hypertensive patients by automatic sequencing. The data showed that the renin enhancer from the patients have genetic variants C-5312T or C-5312T SNP. Hence, the functionality of the renin enhancer and influence of the genetic variants C-5312T on binding to Sp1 is studied. These results from the binding study suggested that Sp1 binds to the DNA in GC rich region. Thus, the genetic variant C-5312T has changed the binding pattern of Sp1 to renin enhancer. This is likely to influence Sp1 activity to stimulate the expression of renin gene. The binding of Sp1 to the cis-element will enhance transcription of renin gene. Thus, polymorphism within C-5312T might contribute to the reduction of renin transcription.
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Lukitasari et al. (2013) conducted an observational in Hypertension (n=34). Genetic variant C-5312T in renin distal enhancer vs. C-5312C variant was evaluated on Sp1 binding pattern to renin enhancer. The genetic variant C-5312T changes the binding pattern of Sp1 to the renin enhancer, shifting it downstream and likely influencing Sp1 activity to stimulate renin gene expression.
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