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Article: MMP9

Buraczynska, Monika / Wrzos, Sylwia / Zaluska, Wojciech

2023 Volume 12, Issue 22

Abstract: Matrix metalloproteinase 9 ( ...

Abstract	Matrix metalloproteinase 9 (
Language	English
Publishing date	2023-11-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12226990
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Article: Leu72Met Polymorphism in Ghrelin Gene: A Potential Risk Factor for Hypertension in Type 2 Diabetes Patients.

Buraczynska, Monika / Golacki, Jakub / Zaluska, Wojciech

Diabetes, metabolic syndrome and obesity : targets and therapy

2023 Volume 16, Page(s) 557–564

Abstract: Objective: Ghrelin (GHRL) is known to be engaged in metabolic and cardiovascular processes. There is evidence suggesting its involvement in the regulation of blood pressure and hypertension. The purpose of this preliminary case-control study was to ... ...

Abstract	Objective: Ghrelin (GHRL) is known to be engaged in metabolic and cardiovascular processes. There is evidence suggesting its involvement in the regulation of blood pressure and hypertension. The purpose of this preliminary case-control study was to determine the involvement of the Leu72Met (rs696217) polymorphism in the Methods: The Leu72Met polymorphism was genotyped in 820 individuals with T2DM and 400 healthy subjects by the PCR-RFLP technique. The polymorphism distribution was first compared in those withT2DM and controls, then in subgroups of participants representing different clinical phenotypes. Results: No significant association was identified between Leu72Met and T2DM. The distribution of polymorphism was analyzed in subgroups of individuals with different clinical phenotypes (hypertension, diabetic nephropathy, obesity). In this analysis, rs696217 was associated with hypertension. The presence of T allele was associated with higher risk of hypertension (OR = 2.50, 95% CI 1.68-3.73, p < 0.001). When adjusted for age, gender and BMI, the association was still significant (OR = 2.62, 95% CI 1.83-3.96, p < 0.001). A post hoc power calculations based on a minor allele frequency revealed the power of 97% for comparison between HY+ and HY- subgroups. Conclusion: This is the first study demonstrating that the ghrelin Leu72Met SNP is associated with hypertension in Caucasians with T2DM. If confirmed in larger studies in different populations, it may be a novel potential risk factor for hypertension in individuals withT2DM.
Language	English
Publishing date	2023-03-01
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2494854-8
ISSN	1178-7007
ISSN	1178-7007
DOI	10.2147/DMSO.S393373
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Article: Arginase Gene Polymorphism Increases Risk of Diabetic Retinopathy in Type 2 Diabetes Mellitus Patients.

Buraczynska, Monika / Zakrocka, Izabela

Journal of clinical medicine

2021 Volume 10, Issue 22

Abstract: Studies have demonstrated that polymorphic variants of arginase 1 gene ( ...

Abstract	Studies have demonstrated that polymorphic variants of arginase 1 gene (
Language	English
Publishing date	2021-11-19
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm10225407
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Article ; Online: Apolipoprotein A5 gene polymorphism (rs662799) and cardiovascular disease in end-stage kidney disease patients.

Jacob, Jerry / Boczkowska, Sylwia / Zaluska, Wojciech / Buraczynska, Monika

BMC nephrology

2022 Volume 23, Issue 1, Page(s) 307

Abstract: Background: Plasma triglyceride (TG) levels are a significant risk factor for cardiovascular disease (CVD). The APOA5 gene is one of the crucial factors in plasma TG metabolism regulation. The rs662799 polymorphism in the APOA5 gene has been reported to ...

Abstract	Background: Plasma triglyceride (TG) levels are a significant risk factor for cardiovascular disease (CVD). The APOA5 gene is one of the crucial factors in plasma TG metabolism regulation. The rs662799 polymorphism in the APOA5 gene has been reported to be associated with cardiovascular disease. The goal of this study was to evaluate the potential association of this variant with CVD in patients with end-stage kidney disease. METHODS: In this case-control study the polymorphism was analyzed using the PCR-RFLP method in 800 consecutive patients with ESKD and 500 healthy controls. The genotype and allele distribution was compared between subgroups of patients with CVD (552) versus those without CVD (248). Results: The frequency of the minor allele (C) in the healthy individuals was 9% compared to 12% in ESRD group (p = 0.09). The difference between groups was slightly higher for CC homozygote (3.5% versus 1.6%, p = 0.042). The ESKD patient group was analyzed according to the presence or absence of CVD. The significant differences in the polymorphism distribution were revealed in this analysis. The frequency of the C allele in the CVD + subgroup was 14% compared to 6% in CVD- patients (p = 0.001). In the CVD + subgroup the ORs (95% CI) for the C allele and CC genotype were 2.41 (1.61-3.6), p < 0.001 and 3.13 (1.07-9.14), p = 0.036, respectively. This indicates to the association of the variant C allele with cardiovascular disease in ESKD patients. The CC homozygotes have a threefold higher odds of CVD compared to TT homozygotes. The highest frequency of the C allele (18%) was observed in subgroup of patients with diabetic nephropathy, with OR (95% CI) 3.40 (2.13-5.43), p < 0.001.The presence of minor allele (CC and CT genotypes) was significantly associated with increased plasma triglyceride levels (p < 0.001 for both CVD + and CVD- groups). Conclusion: The present study demonstrated the effect of rs662799 polymorphism on plasma TG levels and its association with the development of cardiovascular disease in ESKD patients.
MeSH term(s)	Apolipoprotein A-V/genetics ; Cardiovascular Diseases/epidemiology ; Cardiovascular Diseases/genetics ; Case-Control Studies ; Genetic Predisposition to Disease ; Humans ; Kidney Failure, Chronic/complications ; Kidney Failure, Chronic/epidemiology ; Kidney Failure, Chronic/genetics ; Polymorphism, Genetic ; Triglycerides/blood
Chemical Substances	APOA5 protein, human ; Apolipoprotein A-V ; Triglycerides
Language	English
Publishing date	2022-09-07
Publishing country	England
Document type	Journal Article
ZDB-ID	2041348-8
ISSN	1471-2369 ; 1471-2369
ISSN (online)	1471-2369
ISSN	1471-2369
DOI	10.1186/s12882-022-02925-1
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Article ; Online: Association between Monocyte Chemoattractant Protein-1 -2518 (A/G) Single Nucleotide Polymorphism and Chronic Periodontitis in End-stage Renal Disease Patients - A Case-control Study.

Ksiazek, Katarzyna / Buraczynska, Monika

Immunological investigations

2019 Volume 49, Issue 8, Page(s) 897–906

Abstract: Monocyte chemoattractant protein 1 (MCP-1) plays an important role in the development of periodontitis. The purpose of this investigation was to evaluate association of ... ...

Abstract	Monocyte chemoattractant protein 1 (MCP-1) plays an important role in the development of periodontitis. The purpose of this investigation was to evaluate association of the
MeSH term(s)	Alleles ; Case-Control Studies ; Chemokine CCL2/genetics ; Chronic Periodontitis/etiology ; Disease Susceptibility ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Kidney Failure, Chronic/complications ; Kidney Failure, Chronic/diagnosis ; Kidney Failure, Chronic/etiology ; Odds Ratio ; Polymorphism, Single Nucleotide
Chemical Substances	CCL2 protein, human ; Chemokine CCL2
Language	English
Publishing date	2019-12-17
Publishing country	England
Document type	Journal Article
ZDB-ID	632565-8
ISSN	1532-4311 ; 0882-0139
ISSN (online)	1532-4311
ISSN	0882-0139
DOI	10.1080/08820139.2019.1702052
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Article ; Online: Cholesteryl Ester Transfer Protein Gene Polymorphism (I405V) and Risk of Ischemic Stroke.

Buraczynska, Kinga / Rejdak, Konrad / Buraczynska, Monika

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association

2018 Volume 27, Issue 10, Page(s) 2887–2891

Abstract: Background: Cholesteryl ester transfer protein (CETP) plays a major role in the metabolism of high-density lipoprotein. Polymorphisms in the CEPT gene can affect susceptibility to atherosclerosis and cardiovascular disease. The aim of this study was to ... ...

Abstract	Background: Cholesteryl ester transfer protein (CETP) plays a major role in the metabolism of high-density lipoprotein. Polymorphisms in the CEPT gene can affect susceptibility to atherosclerosis and cardiovascular disease. The aim of this study was to evaluate the association of the CETP I405V polymorphism with ischemic stroke. Methods: Five hundred eighty stroke patients and 505 healthy controls were involved in a study. Genomic DNA from all subjects was genotyped for the I405V polymorphism by polymerase chain reaction and restriction analysis. Results: The comparison of stroke and control groups showed a significant increase of V allele and VV genotype in stroke patients (OR 1.61, 95% CI 1.34-1.93 and 2.83, 95% CI 1.78-4.51, respectively). The distribution of alleles and genotypes was also compared between stroke patients with type 2 diabetes mellitus (T2DM) and patients without it. No statistically significant differences were observed between two subgroups. The OR for V allele was 1.15, 95% CI .91-1.46 and for VV genotype 1.25, 95% CI .73-2.15. In comparison of these subgroups separately with controls, the results were similar to obtained for entire STR group. When the distribution of I405V polymorphism in relation to T2DM was analyzed in subgroups of men (n = 296) and women (n = 284) no statistically significant differences were observed. Conclusion: Our results demonstrate that the I405V polymorphism in the CETP gene is strongly associated with ischemic stroke. The presence of T2DM did not affect this association. To our knowledge this is the first such association documented in Caucasian population.
MeSH term(s)	Aged ; Brain Ischemia/diagnosis ; Brain Ischemia/ethnology ; Brain Ischemia/genetics ; Chi-Square Distribution ; Cholesterol Ester Transfer Proteins/genetics ; Diabetes Mellitus, Type 2/ethnology ; European Continental Ancestry Group/genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Logistic Models ; Male ; Middle Aged ; Odds Ratio ; Phenotype ; Poland/epidemiology ; Polymorphism, Single Nucleotide ; Retrospective Studies ; Risk Factors ; Stroke/diagnosis ; Stroke/genetics
Chemical Substances	CETP protein, human ; Cholesterol Ester Transfer Proteins
Language	English
Publishing date	2018-08-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	1131675-5
ISSN	1532-8511 ; 1052-3057
ISSN (online)	1532-8511
ISSN	1052-3057
DOI	10.1016/j.jstrokecerebrovasdis.2018.06.020
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Zs.A 3519: Show issues

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Article ; Online: Association between p22PHOX gene C242T polymorphism and hypertension in end-stage kidney disease patients.

Buraczynska, Monika / Drop, Bartlomiej / Jacob, Jerry / Zaluska, Wojciech

Journal of human hypertension

2020 Volume 35, Issue 1, Page(s) 49–54

Abstract: Oxidative stress plays an important role in hypertension associated vascular damage. It is mediated by nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activation. The C242T polymorphism in the p22PHOX gene encoding essential subunit of NADPH ... ...

Abstract	Oxidative stress plays an important role in hypertension associated vascular damage. It is mediated by nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activation. The C242T polymorphism in the p22PHOX gene encoding essential subunit of NADPH oxidase was associated with CVD, hypertension, and endothelial function. The aim of this study was to assess a potential association of C242T polymorphism with hypertension in end-stage kidney disease (ESKD) patients. DNA samples from 495 patients were genotyped by polymerase chain reaction (PCR) with subsequent cleavage with Rsa I restriction endonuclease. There were no significant differences in genotype and allele distribution between ESKD patients and healthy controls. When patients were stratified into male and female subgroups, there were no differences in the frequency of the T allele (0.35 and 0.34, respectively). Genotype and allele frequencies were also comparable between HY+ and HY- subgroups. We analyzed whether there were any differences between genders in the effect of C242T polymorphism on the presence of hypertension by comparing HY+ males with normotensive males and HY+ females with normotensive females. No difference in polymorphism distribution was found in female subgroup. The significant differences were observed in males. In HY+ subgroup, the frequencies of T allele and TT genotype were higher than in HY- males, with OR 1.91 (1.31-2.8), p = 0.0008 and OR 4.2 (1.67-10.6), p = 0.002, respectively. In conclusion, this is the first study to demonstrate significant association of the p22PHOX gene polymorphism with hypertension in male ESKD patients, with T allele as a risk factor for hypertension.
MeSH term(s)	Female ; Gene Frequency ; Genotype ; Humans ; Hypertension/genetics ; Kidney Failure, Chronic/genetics ; Male ; NADPH Oxidases/genetics ; Polymorphism, Genetic
Chemical Substances	NADPH Oxidases (EC 1.6.3.-) ; CYBA protein, human (EC 1.6.3.1)
Language	English
Publishing date	2020-02-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639472-3
ISSN	1476-5527 ; 0950-9240
ISSN (online)	1476-5527
ISSN	0950-9240
DOI	10.1038/s41371-020-0310-z
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Zs.A 2380: Show issues

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Article ; Online: Renalase gene Glu37Asp polymorphism affects susceptibility to diabetic retinopathy in type 2 diabetes mellitus.

Buraczynska, Monika / Gwiazda-Tyndel, Karolina / Drop, Bartłomiej / Zaluska, Wojciech

Acta diabetologica

2021 Volume 58, Issue 12, Page(s) 1595–1602

Abstract: Aims: Renalase (RNLS) is an enzyme with monoamine oxidase activity that metabolizes circulating catecholamines. The RNLS gene Asp37Glu missense polymorphism (rs2296545) has been associated with hypertension, cardiac hypertrophy and dysfunction, and ... ...

Abstract	Aims: Renalase (RNLS) is an enzyme with monoamine oxidase activity that metabolizes circulating catecholamines. The RNLS gene Asp37Glu missense polymorphism (rs2296545) has been associated with hypertension, cardiac hypertrophy and dysfunction, and stroke. The purpose of our study was to investigate the potential involvement of this polymorphism in the microvascular complications of type 2 diabetes (T2DM). Methods: In this case-control study, the polymorphism was genotyped in 860 patients with T2DM and 400 healthy controls. The genotype and allele distribution was compared in subgroups of patients: with diabetic nephropathy (DN+) (n = 405) versus DN- (independently of the presence of DR) and, similarly, patients with diabetic retinopathy (DR+) (n = 328) versus DR- (independently of the presence of DN). Results: No significant association was detected between analyzed polymorphism and DN. In contrast, the retinopathy subgroup showed a significantly higher frequency of G allele (OR 1.4, 95% CI 1.16-1.72, p = 0.0005) and GG genotype (OR 1.86, 95% CI 1.26-2.75, p = 0.001) than DR- patients. The effect of RNLS Glu37Asp polymorphism on DR remained significant after adjustments for age, gender, BMI, and duration of T2DM (p = 0.005). Conclusions: This is the first study to investigate RNLS gene polymorphism in microvascular complications of T2DM. The results suggest that RNLS rs2296545 SNP might be considered a risk factor for diabetic retinopathy in T2DM patients. This can provide new insight into the role of renalase gene in the pathophysiology of microvascular complications of diabetes.
MeSH term(s)	Case-Control Studies ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/genetics ; Diabetic Retinopathy/genetics ; Humans ; Monoamine Oxidase/genetics ; Polymorphism, Single Nucleotide
Chemical Substances	Monoamine Oxidase (EC 1.4.3.4) ; renalase (EC 1.4.3.4.)
Language	English
Publishing date	2021-06-22
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1097676-0
ISSN	1432-5233 ; 0940-5429
ISSN (online)	1432-5233
ISSN	0940-5429
DOI	10.1007/s00592-021-01740-8
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Article ; Online: LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients.

Buraczynska, Monika / Jacob, Jerry / Gwiazda-Tyndel, Karolina / Ksiazek, Andrzej

BMC nephrology

2021 Volume 22, Issue 1, Page(s) 316

Abstract: Background: The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of ... ...

Abstract	Background: The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. The purpose of this study was to assess the potential association of the LDLR rs688 polymorphism with cardiovascular disease (CVD) in patients with end-stage kidney disease (ESKD) undergoing hemodialysis. Methods: In this case-control study the polymorphism was genotyped by the allele specific PCR method in 800 patients with ESKD and 500 healthy controls. The genotype and allele distribution was compared in subgroups of patients with CVD (552) versus those without CVD (248). Results: A significant difference was observed in genotype distribution among ESKD patients and healthy controls. The frequencies of the T allele and TT genotype in ESKD group were significantly higher, with OR (95% CI) 2.2 (1.87-2.6), p < 0.0001 and 5.84 (3.94-8.65), p < 0.0001, respectively. In the he ESKD cohort the distribution of the rs688 was compared between CVD+ and CVD- subgroups. A strong association of the polymorphism with the CVD risk was observed in this analysis. The frequencies of the T allele and TT genotype were significantly higher in CVD+ subgroup, with OR (95% CI) 3.4 (2.71-4.26), p < 0.0001 and 13.2 (7.87-22.09), p < 0.0001, respectively. A multivariate logistic regression analysis was performed to estimate the association between rs688 T variant and risk of CVD. After adjustment for age, sex, BMI, hypertension and diabetes, both CT and TT genotypes were associated with an increased risk of developing CVD in the dominant, recessive and codominant models of inheritance. No significant differences in serum LDL cholesterol levels were found when compared between genotypes. Conclusions: The present study is the first to demonstrate the association of the LDLR gene polymorphism with increased susceptibility to cardiovascular disease in ESKD patients. This finding needs further investigation to confirm that LDLR rs688 might be a novel genetic risk factor with some prognostic capacity for CVD in ESKD patients.
MeSH term(s)	Aged ; Cardiovascular Diseases/etiology ; Cardiovascular Diseases/genetics ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Genotype ; Heart Disease Risk Factors ; Humans ; Kidney Failure, Chronic/complications ; Kidney Failure, Chronic/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Receptors, LDL/genetics
Chemical Substances	LDLR protein, human ; Receptors, LDL
Language	English
Publishing date	2021-09-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2041348-8
ISSN	1471-2369 ; 1471-2369
ISSN (online)	1471-2369
ISSN	1471-2369
DOI	10.1186/s12882-021-02532-6
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Article ; Online: Interleukin-4 Gene Intron 3 VNTR Polymorphism in Type 2 Diabetes Patients with Peripheral Neuropathy.

Buraczynska, Monika / Buraczynska, Kinga / Zukowski, Pawel / Ksiazek, Andrzej

Immunological investigations

2017 Volume 47, Issue 2, Page(s) 146–153

Abstract: Objective: Diabetic peripheral neuropathy (DPN) is one of late complications of diabetes mellitus. The aim of this study was to evaluate the association between variable number tandem repeat (VNTR) polymorphism in intron 3 of interleukin-4 gene and risk ...

Abstract	Objective: Diabetic peripheral neuropathy (DPN) is one of late complications of diabetes mellitus. The aim of this study was to evaluate the association between variable number tandem repeat (VNTR) polymorphism in intron 3 of interleukin-4 gene and risk of DPN. Methods: We examined 926 T2DM patients and 420 healthy controls. In the patient group, 44% had DPN. Genomic DNA was isolated from all subjects and genotyped for the IL-4 VNTR polymorphism by polymerase chain reaction (PCR). Results: No significant difference was observed in the frequency of minor P1 allele between T2DM patients and controls (OR 1.00, 95% CI 0.81-1.23, p = 0.988). The distribution of IL-4 VNTR polymorphism was compared between patients with DPN and those without it. The polymorphism was not significantly associated with DPN in studied subjects. In comparison of 406 T2DM patients with DPN and 520 patients without it, the OR (95% CI) for P1 allele was 0.82 (0.65-1.04), p = 0.10 and for P1P1 genotype 1.00 (0.53-1.89), p = 0.991. When two subgroups of patients with DPN, those with cardiovascular disease (CVD) and without CVD, were compared, subgroup with coexisting CVD had significantly higher frequency of P1 allele than patients without CVD, with odds ratio for the P1 allele 3.27 (95% CI 1.83-5.83), p = 0.0001. Conclusion: Our results demonstrated that VNTR polymorphism in the IL-4 gene is associated with DPN in type 2 diabetes patients with coexisting CVD.
MeSH term(s)	Aged ; Cardiovascular Diseases/epidemiology ; Cardiovascular Diseases/genetics ; Comorbidity ; Diabetic Neuropathies/epidemiology ; Diabetic Neuropathies/genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-4/genetics ; Introns/genetics ; Male ; Middle Aged ; Minisatellite Repeats/genetics ; Poland/epidemiology ; Polymorphism, Genetic
Chemical Substances	Interleukin-4 (207137-56-2)
Language	English
Publishing date	2017-11-28
Publishing country	England
Document type	Journal Article
ZDB-ID	632565-8
ISSN	1532-4311 ; 0882-0139
ISSN (online)	1532-4311
ISSN	0882-0139
DOI	10.1080/08820139.2017.1407334
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