Limits...
Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population.

Majsterek I, Markiewicz L, Przybylowska K, Gacek M, Kurowska AK, Kaminska A, Szaflik J, Szaflik JP - Med. Sci. Monit. (2011)

Bottom Line: The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.We found a statistically significant increase of the 2G/2G genotype (OR 1.73; 95% CI 1.05-2.86; p=0.019) as well as the 2G allele frequency (OR 1.34; 95% CI 1.03-1.75; p=0.017) of MMP1 in POAG patients in comparison to healthy controls.In conclusion, we suggest that the -1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland.

ABSTRACT

Background: Primary open angle glaucoma (POAG) is considered to be a leading cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) have been extensively studied as POAG risk factors. Recently, several single-nucleotide polymorphisms (SNPs) for MMPs and TIMPs encoding genes have been reported in POAG patients. The aim of this study was to investigate association of the -1607 1G/2G MMP1 and 372 T/C TIMP1 gene polymorphisms with risk of POAG in a Polish population.

Material/methods: In the present case-control study we examined a group of 449 unrelated Caucasian subjects consisting of 196 POAG patients (66 males and 130 females; mean age 70 ± 14) and 253 controls (72 males and 181 females; mean age 67 ± 16). The MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.

Results: We found a statistically significant increase of the 2G/2G genotype (OR 1.73; 95% CI 1.05-2.86; p=0.019) as well as the 2G allele frequency (OR 1.34; 95% CI 1.03-1.75; p=0.017) of MMP1 in POAG patients in comparison to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the TIMP1 polymorphism between patients and controls group. We also did not find any association of TIMP1 with MMP1 gene-gene interaction and risk of POAG occurrence.

Conclusions: In conclusion, we suggest that the -1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population. However, further in vivo study is needed to evaluate biological importance of MMPs polymorphisms as a risk factor of POAG.

Show MeSH

Related in: MedlinePlus

The representative electrophoresis of PCR products of the −1607 1G/2G polymorphic region of MMP1 gene separated by 8% polyacrylamide gel. Lines: M - DNA marker (100 bp); 3, 6 – homozygote 2G/2G; 1, 5 – heterozygote 1G2G; 2, 4, 7 – homozygote 2G2G.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC3539563&req=5

f1-medscimonit-17-7-cr417: The representative electrophoresis of PCR products of the −1607 1G/2G polymorphic region of MMP1 gene separated by 8% polyacrylamide gel. Lines: M - DNA marker (100 bp); 3, 6 – homozygote 2G/2G; 1, 5 – heterozygote 1G2G; 2, 4, 7 – homozygote 2G2G.

Mentions: Primer sequences used in amplification of the MMP1-1607 1G/2G and the TIMP1 372 T/C gene polymorphic sites are displayed in Table 2. Two mismatches were introduced into the reverse annealing primer of the MMP1-1607 1G/2G polymorphism [19], resulting in the restriction endonuclease XmnI recognition sequence (5′-GAANNNNTTC-3′) for the 1G allele. The MMP1 PCR amplification product (118 bp) was digested with 1 unit of XmnI (New England Biolabs, Ipswich, MA, USA) for 16 hours and, only in the presence of the 1G allele, it was cut into 2 fragments of 89 bp and 29 bp (Figure 1). The TIMP1 PCR amplification product (175 bp) was digested with 1 unit BssSI (New England Biolabs, Ipswich, MA, USA) for 16 hours and, only the presence of C allele, it was cut into 2 fragments of 155 bp and 20 bp (Figure 2). The PCR products were separated by 8% polyacrylamide gel electrophoresis.


Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population.

Majsterek I, Markiewicz L, Przybylowska K, Gacek M, Kurowska AK, Kaminska A, Szaflik J, Szaflik JP - Med. Sci. Monit. (2011)

The representative electrophoresis of PCR products of the −1607 1G/2G polymorphic region of MMP1 gene separated by 8% polyacrylamide gel. Lines: M - DNA marker (100 bp); 3, 6 – homozygote 2G/2G; 1, 5 – heterozygote 1G2G; 2, 4, 7 – homozygote 2G2G.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3539563&req=5

f1-medscimonit-17-7-cr417: The representative electrophoresis of PCR products of the −1607 1G/2G polymorphic region of MMP1 gene separated by 8% polyacrylamide gel. Lines: M - DNA marker (100 bp); 3, 6 – homozygote 2G/2G; 1, 5 – heterozygote 1G2G; 2, 4, 7 – homozygote 2G2G.
Mentions: Primer sequences used in amplification of the MMP1-1607 1G/2G and the TIMP1 372 T/C gene polymorphic sites are displayed in Table 2. Two mismatches were introduced into the reverse annealing primer of the MMP1-1607 1G/2G polymorphism [19], resulting in the restriction endonuclease XmnI recognition sequence (5′-GAANNNNTTC-3′) for the 1G allele. The MMP1 PCR amplification product (118 bp) was digested with 1 unit of XmnI (New England Biolabs, Ipswich, MA, USA) for 16 hours and, only in the presence of the 1G allele, it was cut into 2 fragments of 89 bp and 29 bp (Figure 1). The TIMP1 PCR amplification product (175 bp) was digested with 1 unit BssSI (New England Biolabs, Ipswich, MA, USA) for 16 hours and, only the presence of C allele, it was cut into 2 fragments of 155 bp and 20 bp (Figure 2). The PCR products were separated by 8% polyacrylamide gel electrophoresis.

Bottom Line: The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.We found a statistically significant increase of the 2G/2G genotype (OR 1.73; 95% CI 1.05-2.86; p=0.019) as well as the 2G allele frequency (OR 1.34; 95% CI 1.03-1.75; p=0.017) of MMP1 in POAG patients in comparison to healthy controls.In conclusion, we suggest that the -1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland.

ABSTRACT

Background: Primary open angle glaucoma (POAG) is considered to be a leading cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) have been extensively studied as POAG risk factors. Recently, several single-nucleotide polymorphisms (SNPs) for MMPs and TIMPs encoding genes have been reported in POAG patients. The aim of this study was to investigate association of the -1607 1G/2G MMP1 and 372 T/C TIMP1 gene polymorphisms with risk of POAG in a Polish population.

Material/methods: In the present case-control study we examined a group of 449 unrelated Caucasian subjects consisting of 196 POAG patients (66 males and 130 females; mean age 70 ± 14) and 253 controls (72 males and 181 females; mean age 67 ± 16). The MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.

Results: We found a statistically significant increase of the 2G/2G genotype (OR 1.73; 95% CI 1.05-2.86; p=0.019) as well as the 2G allele frequency (OR 1.34; 95% CI 1.03-1.75; p=0.017) of MMP1 in POAG patients in comparison to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the TIMP1 polymorphism between patients and controls group. We also did not find any association of TIMP1 with MMP1 gene-gene interaction and risk of POAG occurrence.

Conclusions: In conclusion, we suggest that the -1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population. However, further in vivo study is needed to evaluate biological importance of MMPs polymorphisms as a risk factor of POAG.

Show MeSH
Related in: MedlinePlus