Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene.
OBJECTIVE
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.
Jeoung
Jin Wook
JW
Department of Ophthalmology, Seoul National University Hospital, Chongno-gu, Korea.
Kim
Dong Myung
DM
Ko
Hyun Soo
HS
Park
Sung Sup
SS
Kim
Ji Yeon
JY
Kim
Sung Yeun
SY
Yoo
Tai Woo
TW
D000328:Adult; D009320:Atrial Natriuretic Factor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005901:Glaucoma / Q000235:genetics / Q000503:physiopathology*; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics*
C472955:NPPA protein, human; D009320:Atrial Natriuretic Factor; D006162:Guanylate Cyclase; D017461:Receptors, Atrial Natriuretic Factor; C091715:atrial natriuretic factor receptor A