Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population

I. B. Han, A. E. Ropper, Y. D. Teng, D. A. Shin, Y. J. Jeon, H. M. Park, D. E. Shin, Y. S. Park, K. N. Kim, N. K. Kim

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Abstract

Disturbances in blood flow to intervertebral discs (IVD) play an important role in IVD degeneration. Vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS) are extremely important angiogenic factors for vasodilation and neovascularization. We investigated the relationship between single nucleotide polymorphisms (SNPs) of the VEGF and eNOS genes and genetic susceptibility to lumbar IVD degeneration in a young adult Korean population. Two hundred and forty-one participants (aged 18 to 30 years), with or without low back pain, were selected for the study. Magnetic resonance imaging was made of the lumbar spine in all participants. The patient group (N = 102) had low back pain clinically and lumbar IVD degeneration radiographically. The control group (N = 139) included subjects with and without low back pain; all were negative radiographically for lumbar IVD degeneration. Using PCR-RFLP analysis, we analyzed VEGF (-2578C>A, -1154G>A, -634G>C, and 936C>T) and eNOS (-786T>C, 4a4b and 894G>T) SNPs. We made combined analyses of the genes and performed haplotype analyses. There were no significant differences in the genotype distribution of polymorphisms of VEGF and eNOS genes among patients and controls. However, the frequency of VEGF -2578CA +AA/-634CC combined genotypes was significantly higher in patients when compared with controls [odds ratio (OR) = 21.00; 95% confidence interval (CI) = 2.590-170.240]. The frequencies of the -2578A/-1154A/-634C/936C (OR = 3.831; 95%CI = 1.068-13.742), -2578A/-1154A/-634C (OR = 3.356; 95%CI = 1.198-9.400), and -2578A/-634C/936C (OR = 10.820; 95%CI = 2.811-41.656) haplotypes were also significantly higher in patients than in controls. We conclude that the combined genotype VEGF -2578CA+AA/-634CC is a possible risk factor for IVD degeneration and the VEGF -2578A/-1154A/-634C/936C haplotype may increase the risk for development of IVD degeneration. Furthermore, the VEGF -634C allele appears to be associated with susceptibility to IVD degeneration.

Original languageEnglish
Pages (from-to)2294-2305
Number of pages12
JournalGenetics and Molecular Research
Volume12
Issue number3
DOIs
Publication statusPublished - 2013 Jul 8

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Intervertebral Disc Degeneration
Nitric Oxide Synthase Type III
Vascular Endothelial Growth Factor A
Population
Genes
Low Back Pain
Odds Ratio
Confidence Intervals
Haplotypes
Genotype
Single Nucleotide Polymorphism
Angiogenesis Inducing Agents
Intervertebral Disc
Genetic Predisposition to Disease
Vasodilation
Restriction Fragment Length Polymorphisms
Young Adult
Spine
Alleles
Magnetic Resonance Imaging

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics

Cite this

Han, I. B. ; Ropper, A. E. ; Teng, Y. D. ; Shin, D. A. ; Jeon, Y. J. ; Park, H. M. ; Shin, D. E. ; Park, Y. S. ; Kim, K. N. ; Kim, N. K. / Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population. In: Genetics and Molecular Research. 2013 ; Vol. 12, No. 3. pp. 2294-2305.
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abstract = "Disturbances in blood flow to intervertebral discs (IVD) play an important role in IVD degeneration. Vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS) are extremely important angiogenic factors for vasodilation and neovascularization. We investigated the relationship between single nucleotide polymorphisms (SNPs) of the VEGF and eNOS genes and genetic susceptibility to lumbar IVD degeneration in a young adult Korean population. Two hundred and forty-one participants (aged 18 to 30 years), with or without low back pain, were selected for the study. Magnetic resonance imaging was made of the lumbar spine in all participants. The patient group (N = 102) had low back pain clinically and lumbar IVD degeneration radiographically. The control group (N = 139) included subjects with and without low back pain; all were negative radiographically for lumbar IVD degeneration. Using PCR-RFLP analysis, we analyzed VEGF (-2578C>A, -1154G>A, -634G>C, and 936C>T) and eNOS (-786T>C, 4a4b and 894G>T) SNPs. We made combined analyses of the genes and performed haplotype analyses. There were no significant differences in the genotype distribution of polymorphisms of VEGF and eNOS genes among patients and controls. However, the frequency of VEGF -2578CA +AA/-634CC combined genotypes was significantly higher in patients when compared with controls [odds ratio (OR) = 21.00; 95{\%} confidence interval (CI) = 2.590-170.240]. The frequencies of the -2578A/-1154A/-634C/936C (OR = 3.831; 95{\%}CI = 1.068-13.742), -2578A/-1154A/-634C (OR = 3.356; 95{\%}CI = 1.198-9.400), and -2578A/-634C/936C (OR = 10.820; 95{\%}CI = 2.811-41.656) haplotypes were also significantly higher in patients than in controls. We conclude that the combined genotype VEGF -2578CA+AA/-634CC is a possible risk factor for IVD degeneration and the VEGF -2578A/-1154A/-634C/936C haplotype may increase the risk for development of IVD degeneration. Furthermore, the VEGF -634C allele appears to be associated with susceptibility to IVD degeneration.",
author = "Han, {I. B.} and Ropper, {A. E.} and Teng, {Y. D.} and Shin, {D. A.} and Jeon, {Y. J.} and Park, {H. M.} and Shin, {D. E.} and Park, {Y. S.} and Kim, {K. N.} and Kim, {N. K.}",
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Han, IB, Ropper, AE, Teng, YD, Shin, DA, Jeon, YJ, Park, HM, Shin, DE, Park, YS, Kim, KN & Kim, NK 2013, 'Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population', Genetics and Molecular Research, vol. 12, no. 3, pp. 2294-2305. https://doi.org/10.4238/2013.July.8.10

Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population. / Han, I. B.; Ropper, A. E.; Teng, Y. D.; Shin, D. A.; Jeon, Y. J.; Park, H. M.; Shin, D. E.; Park, Y. S.; Kim, K. N.; Kim, N. K.

In: Genetics and Molecular Research, Vol. 12, No. 3, 08.07.2013, p. 2294-2305.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population

AU - Han, I. B.

AU - Ropper, A. E.

AU - Teng, Y. D.

AU - Shin, D. A.

AU - Jeon, Y. J.

AU - Park, H. M.

AU - Shin, D. E.

AU - Park, Y. S.

AU - Kim, K. N.

AU - Kim, N. K.

PY - 2013/7/8

Y1 - 2013/7/8

N2 - Disturbances in blood flow to intervertebral discs (IVD) play an important role in IVD degeneration. Vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS) are extremely important angiogenic factors for vasodilation and neovascularization. We investigated the relationship between single nucleotide polymorphisms (SNPs) of the VEGF and eNOS genes and genetic susceptibility to lumbar IVD degeneration in a young adult Korean population. Two hundred and forty-one participants (aged 18 to 30 years), with or without low back pain, were selected for the study. Magnetic resonance imaging was made of the lumbar spine in all participants. The patient group (N = 102) had low back pain clinically and lumbar IVD degeneration radiographically. The control group (N = 139) included subjects with and without low back pain; all were negative radiographically for lumbar IVD degeneration. Using PCR-RFLP analysis, we analyzed VEGF (-2578C>A, -1154G>A, -634G>C, and 936C>T) and eNOS (-786T>C, 4a4b and 894G>T) SNPs. We made combined analyses of the genes and performed haplotype analyses. There were no significant differences in the genotype distribution of polymorphisms of VEGF and eNOS genes among patients and controls. However, the frequency of VEGF -2578CA +AA/-634CC combined genotypes was significantly higher in patients when compared with controls [odds ratio (OR) = 21.00; 95% confidence interval (CI) = 2.590-170.240]. The frequencies of the -2578A/-1154A/-634C/936C (OR = 3.831; 95%CI = 1.068-13.742), -2578A/-1154A/-634C (OR = 3.356; 95%CI = 1.198-9.400), and -2578A/-634C/936C (OR = 10.820; 95%CI = 2.811-41.656) haplotypes were also significantly higher in patients than in controls. We conclude that the combined genotype VEGF -2578CA+AA/-634CC is a possible risk factor for IVD degeneration and the VEGF -2578A/-1154A/-634C/936C haplotype may increase the risk for development of IVD degeneration. Furthermore, the VEGF -634C allele appears to be associated with susceptibility to IVD degeneration.

AB - Disturbances in blood flow to intervertebral discs (IVD) play an important role in IVD degeneration. Vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS) are extremely important angiogenic factors for vasodilation and neovascularization. We investigated the relationship between single nucleotide polymorphisms (SNPs) of the VEGF and eNOS genes and genetic susceptibility to lumbar IVD degeneration in a young adult Korean population. Two hundred and forty-one participants (aged 18 to 30 years), with or without low back pain, were selected for the study. Magnetic resonance imaging was made of the lumbar spine in all participants. The patient group (N = 102) had low back pain clinically and lumbar IVD degeneration radiographically. The control group (N = 139) included subjects with and without low back pain; all were negative radiographically for lumbar IVD degeneration. Using PCR-RFLP analysis, we analyzed VEGF (-2578C>A, -1154G>A, -634G>C, and 936C>T) and eNOS (-786T>C, 4a4b and 894G>T) SNPs. We made combined analyses of the genes and performed haplotype analyses. There were no significant differences in the genotype distribution of polymorphisms of VEGF and eNOS genes among patients and controls. However, the frequency of VEGF -2578CA +AA/-634CC combined genotypes was significantly higher in patients when compared with controls [odds ratio (OR) = 21.00; 95% confidence interval (CI) = 2.590-170.240]. The frequencies of the -2578A/-1154A/-634C/936C (OR = 3.831; 95%CI = 1.068-13.742), -2578A/-1154A/-634C (OR = 3.356; 95%CI = 1.198-9.400), and -2578A/-634C/936C (OR = 10.820; 95%CI = 2.811-41.656) haplotypes were also significantly higher in patients than in controls. We conclude that the combined genotype VEGF -2578CA+AA/-634CC is a possible risk factor for IVD degeneration and the VEGF -2578A/-1154A/-634C/936C haplotype may increase the risk for development of IVD degeneration. Furthermore, the VEGF -634C allele appears to be associated with susceptibility to IVD degeneration.

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