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Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene.

Jeoung JW, Kim DM, Ko HS, Park SS, Kim JY, Kim SY, Yoo TW - Korean J Ophthalmol (2007)

Bottom Line: The expression of natriuretic peptides in the neural bundles of the anterior portion of the optic nerves and their functions in regulating vessel tone and blood flow may suggest a possible role in the pathogenesis of glaucoma.There was no significant difference in the frequency of the Nppa and Npr1 alleles or genotypes in the normal-tension glaucoma group as compared to the control group.Nppa and Npr1 gene polymorphisms are not associated with normal-tension glaucoma, suggesting that this gene does not have an important role in the pathogenesis of optic neuropathy in this disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Seoul National University Hospital, Chongno-gu, Korea.

ABSTRACT

Purpose: The expression of natriuretic peptides in the neural bundles of the anterior portion of the optic nerves and their functions in regulating vessel tone and blood flow may suggest a possible role in the pathogenesis of glaucoma. The purpose of this study was to investigate the association between normal-tension glaucoma and the genetic variations of atrial natriuretic peptide (Nppa) and natriuretic peptide receptor A (Npr1) gene.

Methods: Sixty-seven Korean normal-tension glaucoma (NTG) patients and 100 healthy subjects (as normal controls) were enrolled. DNA from peripheral blood leukocytes was extracted, and the genotypes of five polymorphisms (c.94G>A, c.454T>C, IVS1+16C>T, IVS2+701G>A, and c.-764C>G) in the Nppa gene and one polymorphism (c.1023G>C) in the Npr1 gene were determined using the restriction fragment length polymorphism and the SNaPshot methods. The genotype and allele frequencies of these polymorphisms in patients with NTG and normal controls were compared using the Fisher's exact test and the chi-square test.

Results: In both groups, the genotype distributions were in accordance with the Hardy-Weinberg equilibrium. There was no significant difference in the frequency of the Nppa and Npr1 alleles or genotypes in the normal-tension glaucoma group as compared to the control group.

Conclusions: Nppa and Npr1 gene polymorphisms are not associated with normal-tension glaucoma, suggesting that this gene does not have an important role in the pathogenesis of optic neuropathy in this disease.

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Related in: MedlinePlus

Genomic structures. (A) Nppa gene; (B) Npr1 gene (provided in the public domain by the National Center for Biotechnology Information, Bethesda, MD, U. S. A.; available at http://www.ncbi.nlm.nih.gov).
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Figure 1: Genomic structures. (A) Nppa gene; (B) Npr1 gene (provided in the public domain by the National Center for Biotechnology Information, Bethesda, MD, U. S. A.; available at http://www.ncbi.nlm.nih.gov).

Mentions: The natriuretic peptide (NP) family is composed of atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP), and C-type natriuretic peptide (CNP).2-4 ANP and BNP are circulating peptides mainly produced in the heart that are involved in the regulation of natriuresis, diuresis, and blood flow.3,5 CNP predominantly acts as a vasodilator and is found principally in the central nervous system and endothelial cells.4,6 Three mammalian members of the natriuretic peptide gene family have been identified: Nppa, Nppb, and Nppc, which encode ANP, BNP, and CNP, respectively. The Nppa gene is located in 1p36.2 and contains three exons (Fig. 1A).


Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene.

Jeoung JW, Kim DM, Ko HS, Park SS, Kim JY, Kim SY, Yoo TW - Korean J Ophthalmol (2007)

Genomic structures. (A) Nppa gene; (B) Npr1 gene (provided in the public domain by the National Center for Biotechnology Information, Bethesda, MD, U. S. A.; available at http://www.ncbi.nlm.nih.gov).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2629695&req=5

Figure 1: Genomic structures. (A) Nppa gene; (B) Npr1 gene (provided in the public domain by the National Center for Biotechnology Information, Bethesda, MD, U. S. A.; available at http://www.ncbi.nlm.nih.gov).
Mentions: The natriuretic peptide (NP) family is composed of atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP), and C-type natriuretic peptide (CNP).2-4 ANP and BNP are circulating peptides mainly produced in the heart that are involved in the regulation of natriuresis, diuresis, and blood flow.3,5 CNP predominantly acts as a vasodilator and is found principally in the central nervous system and endothelial cells.4,6 Three mammalian members of the natriuretic peptide gene family have been identified: Nppa, Nppb, and Nppc, which encode ANP, BNP, and CNP, respectively. The Nppa gene is located in 1p36.2 and contains three exons (Fig. 1A).

Bottom Line: The expression of natriuretic peptides in the neural bundles of the anterior portion of the optic nerves and their functions in regulating vessel tone and blood flow may suggest a possible role in the pathogenesis of glaucoma.There was no significant difference in the frequency of the Nppa and Npr1 alleles or genotypes in the normal-tension glaucoma group as compared to the control group.Nppa and Npr1 gene polymorphisms are not associated with normal-tension glaucoma, suggesting that this gene does not have an important role in the pathogenesis of optic neuropathy in this disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Seoul National University Hospital, Chongno-gu, Korea.

ABSTRACT

Purpose: The expression of natriuretic peptides in the neural bundles of the anterior portion of the optic nerves and their functions in regulating vessel tone and blood flow may suggest a possible role in the pathogenesis of glaucoma. The purpose of this study was to investigate the association between normal-tension glaucoma and the genetic variations of atrial natriuretic peptide (Nppa) and natriuretic peptide receptor A (Npr1) gene.

Methods: Sixty-seven Korean normal-tension glaucoma (NTG) patients and 100 healthy subjects (as normal controls) were enrolled. DNA from peripheral blood leukocytes was extracted, and the genotypes of five polymorphisms (c.94G>A, c.454T>C, IVS1+16C>T, IVS2+701G>A, and c.-764C>G) in the Nppa gene and one polymorphism (c.1023G>C) in the Npr1 gene were determined using the restriction fragment length polymorphism and the SNaPshot methods. The genotype and allele frequencies of these polymorphisms in patients with NTG and normal controls were compared using the Fisher's exact test and the chi-square test.

Results: In both groups, the genotype distributions were in accordance with the Hardy-Weinberg equilibrium. There was no significant difference in the frequency of the Nppa and Npr1 alleles or genotypes in the normal-tension glaucoma group as compared to the control group.

Conclusions: Nppa and Npr1 gene polymorphisms are not associated with normal-tension glaucoma, suggesting that this gene does not have an important role in the pathogenesis of optic neuropathy in this disease.

Show MeSH
Related in: MedlinePlus