Variations in angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian populations of different ethnic origins

Pasha, M. A. Qadar; Khan, Amjad P.; Kumar, Ratan; Ram, R. B.; Grover, S. K.; Srivastava, Kamna; Selvamurthy, W.; Brahmachari, Samir K.

doi:10.1007/bf02703684

Cited by 41 publications

(35 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although these associations were not consistent because of different study designs and ethnicities, the distribution pattern of I and D alleles showed high frequency of D allele worldwide (figure 1) and also in Indian populations (figure 2). The mere fact that inspite of being a mutant, D allele is reaching frequency as high as 0.75 worldwide (Abdi-Rad and Bagheri 2011) and 0.66 in Indian population (Pasha et al 2002). This is a clear cut indication of the selective advantages of D allele.…”

Section: Discussionmentioning

confidence: 94%

“…I/D polymorphism of ACE is the most studied polymorphism and is directly involved in the genetic control of the ACE level (Sayed-Tabatabaei et al 2006). The frequency of I and D alleles varies among different populations of world and in Indian populations (Pasha et al 2002;Abdi-Rad and Bagheri 2011). Further, D allele is positively associated with a number of cardiovascular diseases (Sayed-Tabatabaei et al 2006;Choudhury et al 2012).…”

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India

Sharma

Kumar

Mondal

et al. 2016

J Genet

View full text Add to dashboard Cite

India being a country with vast diversity is expected to have different dietary and life style patterns which in turn may lead to population-specific environmental risk factors. Further, the interaction of these risk factors with the genetic makeup of population makes it either susceptible or resistant to cardiovascular disease. One such candidate gene is angiotensin converting enzyme (ACE) for various cardiovascular mechanisms. ACE is the key enzyme of the renin angiotensin aldosterone system pathway which maintains homeostasis blood pressure in the body and any variation in the levels is reported to be associated with various complex diseases. The DD genotype is found to increase ACE levels, which is associated with cardiovascular diseases and decrease in ACE levels are associated with kidney diseases. The aim of this study was to understand the distribution of ACE I/D polymorphism and ACE levels among Brahmins of National Capital Region (NCR) north India, with respect to age and sex ratio distribution. In this study, 136 subjects of which 50 males and 86 females, who were unrelated up to first cousin, aged 25 to70 years were studied. ACE gene was found to be polymorphic with high frequency of heterozygote (ID) followed by II and DD genotypes. The studied population was found to be in Hardy-Weinberg equilibrium with respect to ACE I/D polymorphism (P = 0.55). I allele frequency was found to be higher (0.560) than the D allele (0.44). The median level of ACE was found to be 65.96 ng/mL (48.12-86.24) which is towards lower side of the normal range. ACE levels were found to be increased among individual having either of the homozygotes that is II or DD and higher frequency of heterozygote (ID) is indicative of advantage in the population by maintaining lower ACE levels. The limitation of the present study is low sample size, however, the merit is that the subjects belonged to a Mendalian population with a common gene pool.

show abstract

Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 98%

Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India

Sharma

Kumar

Mondal

et al. 2016

J Genet

View full text Add to dashboard Cite

show abstract

“…A polymorphic 287 bp Alu repeat has been detected in intron 16 of this gene giving rise to two alleles of the gene, the alleles with insertion (allele I) and deletion (allele D) (Rieder et al, 1999). A correlation has been observed with serum ACE activity and Alu polymorphism, with D allele yielding higher levels of the enzyme (Pasha et al, 2002). As a result, individuals with DD genotype get better adapted to high altitude conditions.…”

Section: Alu Insertion-deletion (I/d) Polymorphismmentioning

confidence: 94%

ALU-ring elements in the primate genomes

et al. 2005

Self Cite

View full text Add to dashboard Cite

Elucidation of complete nucleotide sequence of the human has revealed that coding sequences that store the information needed to synthesize functional proteins, occupy only 2% of the genomic region. The remaining 98%, barring few regulatory sequences, has been referred to as non-functional or junk DNA and consists of many kinds of repeat elements. In fact, human genome is the most repeat rich genome sequenced so far, in which more than half of the region is occupied by such sequences. Determination of significance of these repeats in the human genome has become the focus of many studies all over the world, especially after genome sequencing did not reveal any significant difference in coding regions between lower eukaryotes and human. In this article, we have focused on Alu repeats that are primate specific elements with many interesting biological properties. Moreover, these are the repeats with highest copy number in the human genome. We have highlighted different facets of their interaction with the genome and changing paradigms regarding their role in genome organization.

show abstract

“…Observations have proposed that there is wide inter-individual variability of plasma ACE levels, and approximately half of this variability might be explained by the insertion/deletion (I/D) polymorphism of the human ACE gene. 15 Previous studies have indicated that the I allele is associated with decreased plasma ACE levels 16 and enhanced performance and adaptation at high altitudes. 17,18 Due to the rareness of HAPE, only limited data are currently available.…”

Section: Introductionmentioning

confidence: 99%

Association of angiotensin-converting enzyme gene insertion/deletion polymorphism with high-altitude pulmonary oedema: a meta-analysis

Sun

Zhu

et al. 2011

J Renin Angiotensin Aldosterone Syst

View full text Add to dashboard Cite

Background and objective: High-altitude pulmonary oedema (HAPE) is a non-cardiogenic hydrostatic oedema involving a genetic component. Considering the low incidence of HAPE, sample sizes in current reports are relatively limited. We aimed to assess the association between the angiotensin-converting enzyme (ACE) I/D polymorphism and HAPE via a meta-analysis of published and unpublished data. Materials and methods:We searched PubMed, CBM, CNKI, and Cochrane Library Database before 20 November 2010. A random-effects model was applied (STATA) and study quality was assessed in duplicate.Results: A total of five studies including 305 cases and 662 controls were meta-analysed. The summary odds ratio (OR) indicated that no significant differences in risk of developing HAPE were found between carriers of ACE D and I alleles (OR = 1.20; 95% confidence interval (CI), 0.98-1.48; p = 0.084). Lack of association persisted for genotypes under the recessive mode. However, genotype association under the dominant mode showed D allele carriers significantly conferred a 1.55-fold increased HAPE risk compared with II genotype carriers (95% CI, 1.15-2.08; p = 0.004). Funnel plot and Egger's test suggested no evidence of publication bias. Conclusions: Our results supported the notion that ACE D allele carriers were at significant increased risk of developing HAPE.

show abstract

Variations in angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian populations of different ethnic origins

Cited by 41 publications

References 23 publications

Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India

Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India

ALU-ring elements in the primate genomes

Association of angiotensin-converting enzyme gene insertion/deletion polymorphism with high-altitude pulmonary oedema: a meta-analysis

Contact Info

Product

Resources

About