Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population

Abstract

BackgroundThe study of the association between genotype and phenotype is of great importance for the prediction of multiple diseases and pathophysiological conditions. The relationship between angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism and Familial Hypercholesterolemia (FH) has been not fully investigated in all the ethnicities. In this study we sought to determine the frequency of I/D polymorphism genotypes of ACE gene in Saudi patients with FH.ResultsThis is a case–control study carried out purely in Saudi population. Genomic DNA was isolated from 128 subjects who have participated in this study. ACE gene I/D polymorphism was analyzed by polymerase chain reaction in 64 FH cases and 64 healthy controls. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE I/D polymorphism in FH subjects when stratified by gender (p = 0.43).ConclusionOur data suggest that ACE gene I/D polymorphism examined in this study has no role in predicting the occurrence and diagnosis of FH.

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population

“…All controls were recruited from Medical and laboratory staff at KKUH in addition to individuals attending KKUH for routine checkup without having chronic metabolic/medical disease. The research ethical approval was obtained from the Institutional Review Board at KKUH as described in our prior publication (Alharbi et al, 2013). All participants provided written informed consent prior to enrollment into the study.…”

“…Serum samples of TC and TG were measured by the standard enzymatic method (Pars Azmon kit, Iran) using an automated RA-1000 (Technicon, USA). Serum LDL-C and HDL-C levels were measured using commercially available enzyme assay kits (Pars Azmon kit, Iran) (Alharbi et al, 2013).…”

“…The disease is common (1:500) and can be diagnosed by detection of mutations in LDLR gene (Komarova et al, 2013). The genetic basis of FH is a large array of mutations in the LDLR gene, resulting in a lack of functional receptors for LDL on the liver cell surface, giving rise to increased plasma LDL levels (Alharbi et al, 2013). The mature LDLR protein, a transmembrane protein of 839 amino acids, is coded by the 45 kb LDLR gene located on the distal short arm of chromosome 19.…”

Genetic association between angiotensin converting enzyme gene in Saudi obese women established gestational diabetes; Non-replication of case-control studies in insertion and deletion polymorphism

“…In Saudi population, limited studies have been performed in various diseases with ACE polymorphism and results concludes both positive/negative association. 13,[27][28][29][30][31][32][33][34][35] Other meta-analysis reports performed in different diabetic diseases confirm significant association. [36][37][38] The strength of this current study was implemented the purely Saudi women to identify the accurate risk in the Saudi population.…”

Genetic Aspects of Modifiable Risk Factors Associated With Arterial Hypertension by the Example of the Indigenous Population of Mountain Shoriya

“…(2013) аллель I также был установлен как предиктор ожирения и сахарно-го диабета 2 типа в польской популяции [39]. Ряд эпидемиологических исследований вообще не выявил ассоциации полиморфизма гена АСЕ ни с ожирением, ни с нарушениями углеводного и липидного обменов [40,41].…”