Wyniki wyszukiwania - Biblioteka Nauki

1

Predicting outcome in haematological stem cell transplantation

100%

Dickinson A. M. , Cavet J. , Cullup H. , Wang X. N. , Jarvis M. , Sviland L. , Middleton P. G.

Archivum Immunologiae et Therapiae Experimentalis

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2002

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tom 50

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nr 6

369-376

EN

This present review summarises recent results investigating the role of certain cytokine gene polymorphisms, including TNF, IFN, IL-6, IL-10 and IL1 Ra, in allogeneic stem cell transplantation. The review discusses their role in predicting outcome and the development of a genetic risk index for Graft versus Host Disease in HLA matched sibling transplants. By the comparative use of an in vitro human skin explant model initial results suggest that certain cytokine gene polymorphisms may be associated with more severe disease.

2

Effect of ABCG2, PPARGC1A, OLR1 and SCD1 gene polymorphism on estimated breeding values for functional and production traits in Polish Holstein-Friesian bulls.

100%

Komisarek J. , Dorynek Z.

Journal of Applied Genetics

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2009

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tom 50

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nr 2

125-132

EN

This study investigated the impact of 6 polymorphisms located in the ABCG2, PPARGC1A, OLR1 and SCD1 genes on estimated breeding values for milk production, longevity, somatic cell count and reproductive traits. The analysis was conducted on 453 Polish Holstein-Friesian bulls. Genotypes were identified using PCR-RFLP, and haplotype inferences were performed for 3 linked mutations of PPARGC1A. The most significant associations were found between the A/C polymorphism located in exon 14 of ABCG2 and milk fat production traits as well as calving-to-first insemination interval, and between the T/C substitution in intron 9 of the PPARGC1A and non-return rate in heifers.

3

Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele

100%

Strauss E. , Waliszewski K. , Gabriel M. , Zapalski S. , Pawlak A. L.

Journal of Applied Genetics

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2003

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tom 44

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nr 1

85-93

EN

Abdominal aortic aneurysm (AAA) presents itself as a progressive dilation of the abdominal aorta, leading ? if untreated ? to rupture. It is a common disease of the elderly, with a complex etiology. Several genetic, biochemical and environmental factors are recognized as relevant for the pathogenesis of AAA. We determined the polymorphism of the MTHFR (methylenetetrahydrofolate reductase) gene within the fourth exon (C677T) in 63 patients with AAA and compared it to that in 75 subjects of the population sample. The frequencies of the C/C, C/T and T/T genotypes were 65%, 27%, and 8% in the population sample and 33%, 60%, and 6% in the patients. This corresponds to a 4.4-fold greater risk of AAA in subjects who have the 677C/T variant of MTHFR, as compared with those who are 677C/C (p<0.0001; 95% CI=2.11-9.34). The frequency of allele MTHFR 677T in patients (0.37) was higher than in the population sample (0.21; p < 0.007). This association between the common allele of the MTHFR gene ? MTHFR 677T ? and the development of AAA suggests that elevated homocysteine (Hcy) may disturb the function of the aortic wall. The disturbance may involve enhancement of elastin degradation, the process enhanced by mild hyperhomocysteinemia in minipigs. The magnitude of this effect, which refers to the AAA patients unselected for familial occurrence, indicates that the disturbance of aortic wall physiology caused by the presence of the MTHFR 677T allele is greater than the effect of the earlier described allele disequilibrium at the polymorphic alleles of the PAI1 (plasminogen activator inhibitor 1) gene seen only in familial cases of AAA.

4

Polymorphism of the TAP1 gene in Polish patients with psoriasis vulgaris

100%

Witkowska-Tobola A. M. , Szczerkowska-Dobosz A. , Nedoszytko B. , Roszkiewicz J.

Journal of Applied Genetics

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2004

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tom 45

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nr 3

391-393

EN

Psoriasis vulgaris is a HLA-associated common and persistent inflammatory skin disease of unknown aetiology. The transporters associated with antigen processing (TAP) genes are polymorphic genes located in the HLA class II region and due to their essential involvement in class I antigen presentation might be additional susceptibility genes to psoriasis. To investigate the possible involvement of the TAP1 gene in the pathogenesis of psoriasis, we analysed its polymorphism in 169 Polish patients with psoriasis vulgaris and compared them with 66 healthy controls. The frequency of TAP1*D was significantly increased in the patients, compared to the control group. The TAP alleles were also analysed with respect to the age of onset of psoriasis in the patients but no significant differences were recorded. In conclusion, our data suggest that the TAP1*D allele could lead to genetic susceptibility to psoriasis vulgaris in Poles.

5

Polymorphism of the porcine growth hormone gene and its linkage to hormone gene and its linkage to microsatellites S0083 and S0090

88%

Korwin-Kossakowska A. , Pierzchala M. , Kuryl J. , Zwierzchowski L. , Cymerowska-Prokopczyk I. , SiadkowskaE.

Journal of Applied Genetics

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1999

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tom 40

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nr 2

85-91

EN

Polymorphism of microsatellites S0083 and S0090 as well as of the second exon and second intron of the pGH (porcine growth hormone) gene was determined for 293 pedigrees obtained from crossing of 12 F1 (Zlotnicka Spotted x Polish Large White) boars with 64 F1 (Zlotnicka Spotted x Polish Large White) sows, experimental material arranged for a QTL mapping project. Microsatellites were genotyped by capillary electrophoresis of PCR products in an ABI PRISM 310 Genetic Analyser PERKIN-ELMER. The PCR-RFLP polymorphism of the GH gene was identified using HaeII and MspI restriction endonucleases. The following order of linked loci was established: GH-S0083-S0090. This is important information for the mapping of QTLs on chromosome 12.

6

C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of ischemic stroke in Polish subjects

88%

Goracy I. , Cyrylowski L. , Kaczmarczyk M. , Fabian A. , Koziarska D. , Goracy J. , Ciechanowicz A.

Journal of Applied Genetics

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2009

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tom 50

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nr 1

63-67

EN

Hyperhomocysteinemia is reported to be an independent risk factor for the development of ischemic stroke. Several studies on genetic variants of methylenetetrahydrofolate reductase (MTHFR, which plays a crucial role in regulation of plasma homocysteine concentration) reported an association between C677T gene polymorphism and stroke in some Asian populations. No study but one detected this association in Caucasians. The purpose of the present case-control study was to find a relationship between MTHFR genotypes and stroke in a Polish population. MTHFR genotypes were determined by PCR in 152 patients with ischemic stroke from northwestern Poland and in 135 consecutive newborns from the same population. The TT genotype and the T allele were significantly more frequent in patients than in the control group (11.8% vs. 4.4%, and 34.5% vs. 21.5%, P < 0.01). When males and females were analyzed separately, the differences were statistically significant in both genders. It is concluded that presence of the T allele is a risk factor for ischemic stroke in Polish subjects.

7

Gene polymorphisms of the renin-angiotensin-aldosterone system and essential arterial hypertension in childhood

88%

Petrovic D. , Bidivec M. , Peterlin B.

Folia Biologica

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2002

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tom 50

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nr 1-2

53-56

EN

In order to investigate the contribution of candidate genes in the renin-angiotensin- -aldosterone system (RAAS) in pathogenesis of essential arterial hypertension (EAH), the I/D polymorphism of ACE gene, the M235T polymorphism of the angiotensinogen gene, and the angiotensin II type 1 receptor (AGT1R) A1166C gene polymorphism in a group of children with EAH were analyzed. Fifty-seven children, aged 8-19 years, with the diagnosis of EAH were included in the association study and were compared with 57 subjects with normal blood pressure (the control group). Arterial hypertension was defined as systolic/diastolic blood pressure measurements higher than 95 age-gender-height percentile of the adopted reference values. A trend was found towards an association between the M235T angiotensinogen gene polymorphism and EAH in childhood in a dominant model (odds ratio (OR) 2.1; 95 % confidence interval (CI) 0.9-5.1; P=0.077), whereas the authors failed to demonstrate an association between the ACE I/D gene polymorphism, or the A1166C AGT1R gene polymorphism and EAH in childhood. Additionally, evidence was found of interaction between the angiotensinogen-TT genotype and obesity on the risk of EAH in childhood (OR 19.3; 95% CI 1.1-77.3; P=0.014). In conclusion, the M235T angiotensinogen gene polymorphism is considered alone as well as in interaction with obesity to be risk factors for EAH in childhood.

8

Polymorphism of methylenetetrahydrofolate reductase gene (Mthfr) and occurrence of the hyperhomocyteinemia-related diseases

88%

Pawlak A. L. , Strauss E. , Pawlak A. L.

Postępy Higieny i Medycyny Doświadczalnej

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2001

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tom 55

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nr 2

233-256

EN

Methylenetetrahydrofolate reductase (MTHFR), is a cytosolic enzyme, the product of which is N5-metyltetrahydrofolate, the main form of folates in tissues and the carbon donor for methylation of homocysteine to methionine. In MTHFR gene a series of the pathogenic mutations is known which lead to loss of enzymatic activity as well as the two polymorphic alleles (MTHFR 677T and 1298C) with products displaying the lowered enzyme activity resulting in hyperhomocysteinaemia. These polymorphic alleles of MTHFR represent the main genetic factor contributing to hyperhomocysteinaemia. The better known allele MTHFR 677T is found in different populations with frequency between ca. 0,1 and 0,36. In persons inheriting the variant alleles of MTHFR the increase in the level of homocysteine is noted resulting in the increased susceptibility to vascular diseases and the neural tube defects in the progeny. The procedure recommended for the prevention of effects of deficiency of MTHFR activity consists of the supplementation of the diet with 0,4 mg of folic acid daily.

9

Restriction fragment length polymorphism of exon 2 Ovar-DRB1 gene in Polish Heath Sheep and Polish Lowland Sheep

88%

Gruszczynska J. , Brokowska K. , Charon K. M. , Swiderek W. P.

Journal of Applied Genetics

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2005

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tom 46

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nr 3

311-314

EN

Exon 2 of the Ovar-DR gene is known to encode the MHC outer domain (alpha or beta chain) that forms the binding area to antigens presented. The study was aimed at analysing exon 2 Ovar -DRB1 gene polymorphism in Polish Heath Sheep and Polish Lowland Sheep (Zelazna variety). A total of 101 and 99 ewes of the respective breeds were included in this study. We identified 65 different haplotypes in Polish Heath Sheep and 68 in Polish Lowland Sheep. The PCR-RFLP method and PCR products sequencing made it possible to identify two new sequences of exon 2 Ovar-DRB1 gene (AY230000 and AY248695). A distinct polymorphism in the exon 2 sequence presents possibilities for immune response toward a great variety of pathogens.

10

Polymerase chain reaction-heteroduplex (PCR-HD) polymorphism within the bovine STAT5A gene

88%

Flisikowski K. , Zwierzchowski L.

Journal of Applied Genetics

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2003

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tom 44

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nr 2

185-189

EN

Signal transducers and activators of transcription (STATs) are transcription factors mediating signals of various hormones and cytokines. STAT5A, previously known as the mammary gland factor (MGF), mediates the action of prolactin on milk protein gene expression in mammary epithelial cells. We used polymerase chain reaction-heteroduplex (PCR-HD) and sequencing methods for detection of nucleotide sequence polymorphism in intron 15 of the bovine STAT5A gene. A 281-bp gene fragment, from nt 12525 to nt 12806 (GenBank AJ 237937), was amplified with PCR, denatured and subjected to polyacrylamide gel electrophoresis to detect PCR-HD polymorphism. Three genotypes and two alleles were identified. DNA samples derived from homozygotes AA and BB were sequenced. A trinucleotide CCT deletion was found in the variant B of the STAT5A gene at position 12549. In a group of 72 beef bulls of various breeds and 49 Friesian bulls genotyped by PCR-HD mostly the AA genotype was found (from 83 to 61% depending on breed). The frequency of allele A varied between 0.91 and 0.77. Animals of genotype BB were found in Charolaise and Limousine breeds only.

11

Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population

75%

Jelonek K. , Gdowicz-Klosok A. , Pietrowska M. , Borkowska M. , Korfanty J. , Rzeszowska-Wolny J. , Widlak P.

Journal of Applied Genetics

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2010

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tom 51

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nr 3

343-352

EN

Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Asp148Glu, NBS1 Glu185Gln, and XPA G-4A) and in a gene involved in regulation of the cell-cycle (CCND1 A870G). We compared their frequencies in groups of colon, head and neck, and breast cancer patients, and 2 healthy control groups: (1) matched healthy Polish individuals and (2) a NCBI database control group. Highly significant differences in the distribution of genotypes of the APE1, XRCC1 and CCND1 genes were found between colon cancer patients and healthy individuals. The 148Asp APE1 allele and the 399Gln XRCC1 allele apparently increased the risk of colon cancer (OR = 1.9-2.3 and OR = 1.5-2.1, respectively). Additionally, frequencies of XPD genotypes differed between healthy controls and patients with colon or head and neck cancer. Importantly, no differences in the distribution of these polymorphisms were found between healthy controls and breast cancer patients. The data clearly indicate that the risk of colon cancer is associated with single-nucleotide polymorphism in genes involved in base-excision repair and DNA-damage-induced responses.