Comparison of Elite Athletes and Essential Hypertension Patients for Angiotensin-Converting Enzyme (ACE) I/D and ACE G2350A Gene Polymorphisms

Abstract

Objective: Angiotensin-converting enzyme (ACE) gene produces an ACE protein which is the key component of the renin-angiotensin system and contains several polymorphisms which affects the physical performance that is significantly important for athletes. Insertion/deletion (I/D) and G2350A polymorphisms which have one of the most powerful influences in the ACE gene is known to regulate cardiovascular mechanisms by taking a role in angiotensin-system. Methods:The present study aimed to investigate the genetic association and haplotypes formed by rs1799752 (ACE I/D) and rs4343 (ACE G2350A) polymorphisms in essential hypertension patients, elite athletes and healthy controls in total 79 subjects (27 hypertension patients, 27 elite athletes and 25 control group individuals) from Turkish population. In this study, ACE I/D and G2350A polymorphisms were genotyped by using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method and identified by bioanalyzer after restriction digestion. Results:The prevalence of genotype frequencies of the ACE rs1799752 II/ID/DD was 3.7%, 44.44%, 51.85% in hypertension patients; 3.7%, 33.33%, 62.96% in elite athletes and 12%, 24%, 64% in healthy controls, respectively. Also, the prevalence of genotype frequencies of the ACE rs4343 GG/GA/AA was 7.41%, 77.78%, 14.81% in hypertension patients; 0%, 77.78%, 22.22% in elite athletes and 4%, 84%, 12% in healthy controls, respectively. Conclusion:Our data suggest that "D" allele for I/D and "A" allele for G2350A polymorphisms of ACE gene may have a potential role with a large number of patients and control groups in Turkish population.

Diagnostic efficacy of cystatin-c in association with different ACE genes predicting renal insufficiency in T2DM

“…This gene was shown to include 26 exons as well as 25 introns and encodes a protein containing 1,306 amino acid. Previous records of National Center for Biotechnology Information (NCBI) had shown that ACE gene had more than 160 polymorphisms (mainly single nucleotide polymorphisms (SNP) 16 . Within the circulation, ACE G2350A gene (one of the ACE genes) had demonstrated a significant role in the determination of ACE level 8 .…”

“…Other polymorphism is the insertion/deletion (I/D) one which represents the most widely studied ACE polymorphism. It is characterized by the presence of a 287 bp Alu repeat sequence (insertion) or absence (deletion) in intron 16 . This produces three genotypes (wild I/I homozygous, heterozygous I/D heterozygote, and mutant homozygous D/D) 17 , 18 .…”