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Lack of Association Between the ACE2 G8790A Gene Variation and Risk for Basal Cell Carcinoma
Iphigenia Gintoni1,2, Stavros Vassiliou3, Dimitris Avgoustidis4
1Unit of Orofacial Genetics, 1 Department of Pediatrics, National Kapodistrian University of Athens, "Hagia Sophia" Children's Hospital, Athens, Greece.
Background/Aim:
The G8790A (rs2285666) functional polymorphism of the angiotensin-converting enzyme 2 (ACE2) gene influences alternative mRNA splicing and quantitatively affects the enzyme's production. Specifically, the presence of the A allele has been associated with higher ACE2 plasma levels. In this study, we investigated the possible association of the functional polymorphism ACE2-G8790A with the pathogenesis of basal cell carcinoma (BCC).
Patients And Methods:
A total of 190 DNA samples were studied, including 91 BCC patients and 99 controls of Greek origin. Molecular genotyping for the ACE2 G8790A polymorphism was carried out by PCR amplification, followed by AluI enzyme digestion and agarose gel electrophoresis of the DNA fragments.
Results:
The allelic and genotypic frequencies presented no statistical difference between the patient and the control group.
Conclusion:
There is no association between the ACE2 G8790A polymorphism and pathogenesis of BCC.
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