Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration
Background. Spinal diseases cause significant disability, with genetic factors influencing up to 70 % of cases. This study purposed to examine the association of polymorphisms of COL1A1rs1800012, COL2A1rs2276454, COL2A1rs1793953 (collagen genes), and VDRrs2228570 with L4-L5, L5-S1, C5-C7 with interv...
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| Language: | English |
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Zaslavsky O.Yu.
2024-06-01
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| Series: | Bolʹ, Sustavy, Pozvonočnik |
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| Online Access: | https://pjs.zaslavsky.com.ua/index.php/journal/article/view/417 |
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| author | Ye.H. Pedachenko I.H. Vasylieva M.V. Khyzhnyak N.G. Chopyck O.I. Tsyubko A.B. Dmytrenko T.A. Makarova O.I. Troyan T.A. Ksenzov |
| author_facet | Ye.H. Pedachenko I.H. Vasylieva M.V. Khyzhnyak N.G. Chopyck O.I. Tsyubko A.B. Dmytrenko T.A. Makarova O.I. Troyan T.A. Ksenzov |
| author_sort | Ye.H. Pedachenko |
| collection | DOAJ |
| description | Background. Spinal diseases cause significant disability, with genetic factors influencing up to 70 % of cases. This study purposed to examine the association of polymorphisms of COL1A1rs1800012, COL2A1rs2276454, COL2A1rs1793953 (collagen genes), and VDRrs2228570 with L4-L5, L5-S1, C5-C7 with intervertebral disc degeneration among ethnic Ukrainians. Materials and methods. The study included 90 individuals with L5-S1 disc degeneration, 50 — with L4-L5 degeneration, 30 — with C5-C7, and 66 controls without disc degeneration. Applied Biosystems (USA) kits were used for genotyping. Statistical analysis was performed using SNPStats. Results. There was an association between the C/C genotype and L5-S1 disc degeneration in men (odd ratio (OR) was 2.255, 95% confidence interval (CI): 1.089–4.670; χ2 = 4.905; p = 0.027), whereas the C/T genotype may have a protective effect (OR = 0.418, 95% CІ: 0.217–0.802; χ2 = 6.689, p = 0.009). The C/T genotype may also have protective significance for C5-C7 disc degeneration in men: its occurrence was higher among men in the control group compared to women (OR = 3.85, 95% CІ: 1.086–13.648; χ2 = 4.67; p = 0.031). The G/A COL2A1rs2276454 variant may have a protective effect on the L5-S1 disc (OR = 3.50, 95% CІ: 1.26–9.72; χ2 = 6.02; p = 0.015). The pair of alleles COL2A1rs2276454/COL2A1rs1793953 were linked to degenerative changes of the L4-L5 disc in the case group (p = 0.001); COL1A1rs1800012/VDRrs2228570 and COL2A1rs1793953/VDRrs2228570 were linked to degenerative changes in the C5-C7 disc. Conclusions. The C/C VDRrs2228570 genotype in men was associated with L5-S1 intervertebral disc degeneration. The T/C VDRrs2228570 genotype may have a protective significance for men with L5-S1 and C5-C7 degeneration. The COL2A1rs2276454 variant may have a protective effect against the development of L5-S1 degenerative changes in men. The allele pairs COL1A1rs1800012/VDRrs2228570, COL2A1rs1793953/VDRrs2228570, and COL2A1rs2276454/COL2A1rs1793953 were associated with C5-C7 degeneration, while the COL2A1rs2276454/COL2A1rs1793953 pair were associated with L4-L5 degeneration. |
| format | Article |
| id | doaj-art-eab95f3750b845cb94d88ae46327d9b3 |
| institution | Kabale University |
| issn | 2224-1507 2307-1133 |
| language | English |
| publishDate | 2024-06-01 |
| publisher | Zaslavsky O.Yu. |
| record_format | Article |
| series | Bolʹ, Sustavy, Pozvonočnik |
| spelling | doaj-art-eab95f3750b845cb94d88ae46327d9b32024-11-10T19:56:08ZengZaslavsky O.Yu.Bolʹ, Sustavy, Pozvonočnik2224-15072307-11332024-06-01142536010.22141/pjs.14.2.2024.417417Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degenerationYe.H. Pedachenko0https://orcid.org/0000-0003-4759-6019I.H. Vasylieva1M.V. Khyzhnyak2N.G. Chopyck3https://orcid.org/0000-0003-1024-1556O.I. Tsyubko4https://orcid.org/0000-0003-0138-4643A.B. Dmytrenko5https://orcid.org/0000-0002-0141-3697T.A. Makarova6https://orcid.org/0000-0001-5203-450XO.I. Troyan7https://orcid.org/0009-0004-7122-1342T.A. Ksenzov8https://orcid.org/0000-0001-8305-8563SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineSI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineSI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineSI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineSI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineSI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineSI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyіv, UkraineBogomolets National Medical University, Kyіv, UkraineMedical House Odrex, Odesa, UkraineBackground. Spinal diseases cause significant disability, with genetic factors influencing up to 70 % of cases. This study purposed to examine the association of polymorphisms of COL1A1rs1800012, COL2A1rs2276454, COL2A1rs1793953 (collagen genes), and VDRrs2228570 with L4-L5, L5-S1, C5-C7 with intervertebral disc degeneration among ethnic Ukrainians. Materials and methods. The study included 90 individuals with L5-S1 disc degeneration, 50 — with L4-L5 degeneration, 30 — with C5-C7, and 66 controls without disc degeneration. Applied Biosystems (USA) kits were used for genotyping. Statistical analysis was performed using SNPStats. Results. There was an association between the C/C genotype and L5-S1 disc degeneration in men (odd ratio (OR) was 2.255, 95% confidence interval (CI): 1.089–4.670; χ2 = 4.905; p = 0.027), whereas the C/T genotype may have a protective effect (OR = 0.418, 95% CІ: 0.217–0.802; χ2 = 6.689, p = 0.009). The C/T genotype may also have protective significance for C5-C7 disc degeneration in men: its occurrence was higher among men in the control group compared to women (OR = 3.85, 95% CІ: 1.086–13.648; χ2 = 4.67; p = 0.031). The G/A COL2A1rs2276454 variant may have a protective effect on the L5-S1 disc (OR = 3.50, 95% CІ: 1.26–9.72; χ2 = 6.02; p = 0.015). The pair of alleles COL2A1rs2276454/COL2A1rs1793953 were linked to degenerative changes of the L4-L5 disc in the case group (p = 0.001); COL1A1rs1800012/VDRrs2228570 and COL2A1rs1793953/VDRrs2228570 were linked to degenerative changes in the C5-C7 disc. Conclusions. The C/C VDRrs2228570 genotype in men was associated with L5-S1 intervertebral disc degeneration. The T/C VDRrs2228570 genotype may have a protective significance for men with L5-S1 and C5-C7 degeneration. The COL2A1rs2276454 variant may have a protective effect against the development of L5-S1 degenerative changes in men. The allele pairs COL1A1rs1800012/VDRrs2228570, COL2A1rs1793953/VDRrs2228570, and COL2A1rs2276454/COL2A1rs1793953 were associated with C5-C7 degeneration, while the COL2A1rs2276454/COL2A1rs1793953 pair were associated with L4-L5 degeneration.https://pjs.zaslavsky.com.ua/index.php/journal/article/view/417intervertebral disc degenerationrs1800012rs2276454rs1793953rs2228570linkage disequilibrium |
| spellingShingle | Ye.H. Pedachenko I.H. Vasylieva M.V. Khyzhnyak N.G. Chopyck O.I. Tsyubko A.B. Dmytrenko T.A. Makarova O.I. Troyan T.A. Ksenzov Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration Bolʹ, Sustavy, Pozvonočnik intervertebral disc degeneration rs1800012 rs2276454 rs1793953 rs2228570 linkage disequilibrium |
| title | Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration |
| title_full | Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration |
| title_fullStr | Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration |
| title_full_unstemmed | Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration |
| title_short | Polymorphisms of the collagen genes of the fibrous ring rs1800012, rs2276454, rs1793953, and the VDR gene rs2228570 with intervertebral disc degeneration |
| title_sort | polymorphisms of the collagen genes of the fibrous ring rs1800012 rs2276454 rs1793953 and the vdr gene rs2228570 with intervertebral disc degeneration |
| topic | intervertebral disc degeneration rs1800012 rs2276454 rs1793953 rs2228570 linkage disequilibrium |
| url | https://pjs.zaslavsky.com.ua/index.php/journal/article/view/417 |
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