<abstract xmlns="http://www.w3.org/1999/xhtml"> Background: Essential hypertension is a complex polygenic disorder arising from the interaction of several genes with environmental factors. Of the various physiological pathways affecting the homeostasis of blood pressure, the renin-angiotensin system (RAS) is considered important with angiotensin converting enzyme (ACE) playing a key role in causing susceptibility to hypertension. Objective: Explore the single locus, haplotype and epistasis patterns of two polymorphisms of ACE gene (I/D and g.2350G>A) and their contribution in causing risk for essential hypertension. Methods: Two hundred seventy nine hypertensive cases and 200 healthy controls were recruited. Genotype of the ACE I/D polymorphism was determined by PCR and g.2350G>A polymorphism was assessed using a polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) based method. Results: The distribution of genotypes showed a significant association of ACE I/D polymorphism (χ2 = 7.148, p = 0.028), while ACE g.2350G>A polymorphism did not show any such association (χ2 = 0.85, p = 0.65). For ACE I/D and g.2350G>A polymorphisms, genotypic proportions were statistically significant especially in males (p &lt;0.05). The frequency of H1 haplotype with ACE I and G2350 alleles was higher among hypertensives than in normotensives. The analysis for epistatic interaction showed a strong synergistic effect between I/D and g.2350G>A polymorphisms. Conclusion: Our study suggests significant association of allele I of I/D polymorphism and essential hypertension with strong synergism when segregating with allele G of g.2350G>A polymorphism at ACE locus. </abstract>

Background: Essential hypertension is a complex polygenic disorder arising from the interaction of several genes with environmental factors. Of the various physiological pathways affecting the homeostasis of blood pressure, the renin-angiotensin system (RAS) is considered important with angiotensin converting enzyme (ACE) playing a key role in causing susceptibility to hypertension. Objective: Explore the single locus, haplotype and epistasis patterns of two polymorphisms of ACE gene (I/D and g.2350G>A) and their contribution in causing risk for essential hypertension. Methods: Two hundred seventy nine hypertensive cases and 200 healthy controls were recruited. Genotype of the ACE I/D polymorphism was determined by PCR and g.2350G>A polymorphism was assessed using a polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) based method. Results: The distribution of genotypes showed a significant association of ACE I/D polymorphism (χ2 = 7.148, p = 0.028), while ACE g.2350G>A polymorphism did not show any such association (χ2 = 0.85, p = 0.65). For ACE I/D and g.2350G>A polymorphisms, genotypic proportions were statistically significant especially in males (p <0.05). The frequency of H1 haplotype with ACE I and G2350 alleles was higher among hypertensives than in normotensives. The analysis for epistatic interaction showed a strong synergistic effect between I/D and g.2350G>A polymorphisms. Conclusion: Our study suggests significant association of allele I of I/D polymorphism and essential hypertension with strong synergism when segregating with allele G of g.2350G>A polymorphism at ACE locus.

Risk of angiotensin - converting enzyme (ACE) gene I/D and g.2350G&gt;A polymorphisms in causing susceptibility to essential hypertension

Department of Genetics, Osmania University, Hyderabad 500007,

Vijaya Diagnostic Centre, Hyderabad 500007,

Department of Genetics, Osmania University, Hyderabad 500 007,

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Risk of angiotensin - converting enzyme (ACE) gene I/D and g.2350G>A polymorphisms in causing susceptibility to essential hypertension

Background: Essential hypertension is a complex polygenic disorder arising from the interaction of several genes with environmental factors. Of the various physiological pathways affecting the homeostasis of blood pressure, the renin-angiotensin system (RAS) is considered important with angiotensin converting enzyme (ACE) playing a key role in causing susceptibility to hypertension. Objective: Explore the single locus, haplotype and epistasis patterns of two polymorphisms of ACE gene (I/D and g.2350G>A) and their contribution in causing risk for essential hypertension. Methods: Two hundred seventy nine hypertensive cases and 200 healthy controls were recruited. Genotype of the ACE I/D polymorphism was determined by PCR and g.2350G>A polymorphism was assessed using a polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) based method. Results: The distribution of genotypes showed a significant association of ACE I/D polymorphism (χ2 = 7.148, p = 0.028), while ACE g.2350G>A polymorphism did not show any such association (χ2 = 0.85, p = 0.65). For ACE I/D and g.2350G>A polymorphisms, genotypic proportions were statistically significant especially in males (p A polymorphisms. Conclusion: Our study suggests significant association of allele I of I/D polymorphism and essential hypertension with strong synergism when segregating with allele G of g.2350G>A polymorphism at ACE locus.

Background: Essential hypertension is a complex polygenic disorder arising from the interaction of several genes with environmental factors. Of the various...

Risk of angiotensin - converting enzyme (ACE) gene I/D and g.2350G>A polymorphisms in causing susceptibility to essential hypertension

Article Category: Brief communication (Original)

Publicado en línea: 04 feb 2017

Páginas: 255 - 264

DOI: https://doi.org/10.5372/1905-7415.0602.051

Palabras clave
Angiotensin-converting enzyme, essential hypertension, haplotype, I/D, g.2350G>A

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Risk of angiotensin - converting enzyme (ACE) gene I/D and g.2350G>A polymorphisms in causing susceptibility to essential hypertension

Article Category: Brief communication (Original)

Publicado en línea: 04 feb 2017

Páginas: 255 - 264

DOI: https://doi.org/10.5372/1905-7415.0602.051

Palabras claveAngiotensin-converting enzyme, essential hypertension, haplotype, I/D, g.2350G>A

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Palabras clave
Angiotensin-converting enzyme, essential hypertension, haplotype, I/D, g.2350G>A