Determination of Human Angiotensin Converting Enzyme (ACE) Gene Polymorphisms in Erectile Dysfunction: Frequency Differences of ACE Gene Polymorphisms according to the Method of Analysis

Abstract

The D polymorphism of angiotensin converting enzyme (ACE) gene has been found to be associated with various diseases, and ACE may also be involved in the pathogenesis of erectile dysfunction. On the other hand, interpretation of the data on the association of DD genotype with various diseases is controversial, due to methodological and technical variations in detection of the polymorphisms. We investigated a possible association between the DD genotype and erectile dysfunction in a Korean population, and compared the frequency of ACEgenotypes using our multiplexed PCR method with those based on the conventional PCR method in a sample of erectile dysfunctional and control subjects. There was significant difference in the distribution of ACE genotypes between the erectile dysfunctional (conventional PCR) and the control subjects (multiplexed PCR) (chi2=7.395, p<0.05), but there was no significant difference in the distribution of the genotypes between both groups (chi2=0.815, p>0.05) when our multiplexed PCR method was used. Therefore our results suggest that especially the conventional PCR method for ACE gene polymorphism may require careful control and may need repeated testing to verify the insertion deletion (ID) heterozygotes, and that a multiplexed PCR method can markedly increase the detection rate of the I allele in ID heterozygotes. No association was found between I/D polymorphism and erectile dysfunctional subjects in the Korean population studied.

Association of Angiotensin-Converting Enzyme I/D and eNOS G894T Gene Polymorphisms with Erectile Dysfunction

“…The re sults sho wed that pa ti ents with ED ho mozy go us for the ACE I al le le had a bet ter drug res pon se to sil de na fil than did D al le le car ri ers. Ho we ver, Kim et al 37 did not de tect any as so ci a ti on bet we en the ACE I/D ge noty pe and ED in the sa me po pu la ti on, com pa tib le with our re sults. Ro sas-Var gas et al 38 al so de ni ed an inf lu en ce of ge noty pes of the ACE I/D poly morp hism on the risk of ED in a Me xi can Mes ti zo po pu la ti on.…”

Angiotensin-converting enzyme gene I/D dimorphism does not play a major role in the susceptibility of Malaysian systemic lupus erythematosus patients

“…The conventional PCR for the analysis of ACE I/D dimorphism was first designed by Rigat and his researchers in 1992. However, the phenomenon of mistyping has been estimated to occur at a frequency of approximately 5 to 10%, due to the higher amplification rate of the relatively shorter sequence of the D allele (190 bp) compared to the I allele (490 bp), especially in the heterozygous state (Chiang et al, 1998;Pfohl et al, 1999;Kim et al, 2001). Hence, a confirmatory PCR was required to counter this problem (Chiang et al, 1998).…”

“…There are two isoforms of ACE present in our body, i.e., the circulating form and the membrane-bound enzyme (Kim et al, 2001). The ACE is expressed in several organs such as the kidneys, heart, testes, lungs, and vascular endothelium (Pullmann Jr. et al, 1999).…”

“…Thus, there are two alleles present, i.e., the I and D alleles, based on the presence or absence of this short repeat sequence, respectively. In parallel, there are three genotypes being observed, namely the II homozygote, ID heterozygote and DD homozygote (Kim et al, 2001). Overall in this study, we focus on the investigation of the potential association between the ACE I/D dimorphism and susceptibility of SLE in the Malaysian population.…”

Pharmacogenetic Association of the Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism on Blood Pressure and Cardiovascular Risk in Relation to Antihypertensive Treatment

“…17 ACE I/D genotyping was performed using a modification of the procedure described by Kim et al 18 to enhance detection of heterozygotes. This procedure was modified by substituting 0.11 g/L BSA for 8-methoxypsoralen in the reaction mixture and using the following cycling conditions: 95°C for 7 minutes, 12 cycles of 95°C for 1 minute, 63°C for 1 minute, and 72°C for 1.5 minute, followed by 30 cycles of 95°C for 45 seconds, 65°C for 45 seconds, 72°C for 45 seconds, and a final extension at 72°C for 5 minutes.…”