Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Abstract

ABSTRACT. The aim of this study was to determine whether C34T, a common polymorphism of the adenosine monophosphate deaminase 1 gene (AMPD1), is associated with essential hypertension (EH). We hypothesize that C34T is associated with the development of EH. A casecontrol design was used for this study. The DNA was extracted using a commercial kit from the whole blood of 200 patients with hypertension and 200 subjects without hypertension from selected Malaysian ethnicities (Malays, Chinese, and Indians). Polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis were used for genotyping. The C34T gene polymorphism of AMPD1 was significantly associated with EH in the Malaysian subjects (P < 0.0001). The genotype frequencies of CC, CT, and TT were 6%, 79%, and 15%, respectively, among hypertensive subjects, while no TT genotypes were observed in the normotensive subjects. Further, the frequency of hypertension was higher among T allele carriers than C carriers (OD = 9.94; 95%CI = 6.851-14.434). There were significant differences in the systolic blood pressure, diastolic blood pressure, and pulse pressure (P ˂ 0.05) between the normotensive and hypertensive Malaysian subjects; we believe those difference were caused by the C34T polymorphism. For the first time in Malaysia, the current study provides evidence that a common polymorphism of the AMPD1 gene (C34T) is strongly associated with EH.

Diabetes and hypertension: Pivotal involvement of purinergic signaling

“…Indeed, ADA activity and platelet aggregation could serve as peripheral markers for the development of therapy for the maintenance of homeostasis and inflammatory processes in hypertension and hypertension-associated pathologies [ 205 ]. A genetic study with hypertensive patients showed that a common polymorphism (C34 T) of the ADA gene (isoform 1) is strongly correlated with hypertension [ 206 ].…”

Mitochondrial DNA 7908–8816 region mutations in maternally inherited essential hypertensive subjects in China

“…A family history of hypertension means that individuals are more likely to suffer hypertension [ 3 , 4 ]. Maternally inherited essential hypertension (MIEH) is EH that shows a pattern of maternal inheritance and is occasionally observed in the clinic [ 5 ].…”

The Impact of Purinergic System Enzymes on Noncommunicable, Neurological, and Degenerative Diseases

“…Human studies have shown increase in ADA activity and expression in response to hypertension and hypertension-associated pathologies, such as metabolic syndrome [ 108 ]. A genetic study with hypertensive patients showed that a common polymorphism (C34T) of the ADA gene (isoform 1) is strongly correlated with essential hypertension [ 109 ]. ADA activity is also increased in both platelets and lymphocytes in an animal model of hypertension induced by L-NAME administration [ 81 , 104 – 106 ].…”