Wyniki wyszukiwania - Biblioteka Nauki

1

Human leukocyte antigens as psoriasis inheritance and susceptibility markers

100%

Szczerkowska_ D. A.

Archivum Immunologiae et Therapiae Experimentalis

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2005

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tom 53

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nr 5

428-433

EN

Psoriasis is a multifactoral and heterogenetically inherited disease. The role of hereditary transmission is supported by familial association, twin studies, and correlation with human leukocyte antigens (HLA). Numerous studies have proved that B13, B17, Cw6, and DR7 antigens are positively associated with psoriasis. Cw6 antigen has been repeatedly indicated to be the most significant marker for the risk prediction of the disease. On the basis of epidemiological studies and HLA analysis, a concept of two distinct disease patterns of psoriasis vulgaris was proposed. In type I psoriasis the disease has an early onset, strong correlation with Cw6, B13, B17, and DR7 antigens, and familiar inheritance. Type II psoriasis has a late onset, weak correlation with HLA antigens, and sporadic familiar occurrence. Both types seem to differ clinically. Moreover, some extended haplotypes were shown to be correlated with the disease, especially with the type I psoriasis. Although a psoriasis susceptibility gene(s) has not been yet identified, a number of candidate genes were studied, with evidence for a major locus located within the major histocompatibility complex (PSORS 1). Cw6 allele is the most extensively investigated candidate gene, but present evidence suggests that it is rather in strong linkage disequilibrium with the PSORS 1 gene than the susceptibility allele itself. This article reviews past and current data on the genetic background of psoriasis with special attention to its correlation with HLA antigens.

2

Genetic polymorphisms of the DNA repair gene MPG may be associated with susceptibility to rheumatoid arthritis

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Chen S. Y. , Wan L. , Huang C. M. , Huang Y. C. , Sheu J. J. C. , Lin Y. J. , Liu S. P. , Lan Y. C. , Lai C. H. , Lin C. W. , Tsai C. H. , Tsai F. J.

Journal of Applied Genetics

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2010

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tom 51

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nr 4

519-521

EN

Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. A previous study indicated that a DNA repair system was involved in the development of RA. In this study, we investigated the association of four N-methylpurine-DNA glycosylase (MPG) gene polymorphisms (rs3176364, rs710079, rs2858056, and rs2541632) with susceptibility to RA in 384 Taiwanese individuals (192 RA patients and 192 control subjects). Our data show a statistically significant difference in genotype frequency distributions at rs710079 and rs2858056 SNPs between RA patients and control groups (P = 0.040 and 0.029, respectively). Our data also indicated that individuals with the GG genotype at rs2858056 SNP may have a higher risk of developing RA. In addition, compared with the haplotype frequencies between case and control groups, individuals with the GCGC haplotype appeared to be at a greater risk of RA progression (P = 0.003, OR = 1.75; 95% CI = 1.20-1.55). Our results suggest that rs710079 and rs2858056 polymorphisms and the GCGC haplotype in the MPG gene are associated with the risk of RA progression, and thus may be used as molecular markers of RA if they are confirmed by further research.

3

Deletion/insertion polymorphism of the prion protein gene (PRNP) in Polish Holstein-Friesian cattle

100%

Czarnik U. , Zabolewicz T. , Strychalski J. , Grzybowski G. , Bogusz M. , Walawski K.

Journal of Applied Genetics

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2007

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tom 48

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nr 3

69-71

EN

The aim of the present study was to identify the deletion/insertion polymorphism of the bovine prion protein gene (PRNP) within the promoter sequence (23 bp), intron 1 (12 bp) and 3' untranslated region (14 bp). DNA was isolated from blood of 234 randomly tested Polish Holstein-Friesian cows and from semen of 47 sires used for artificial insemination (AI) in 2004. No statistically significant differences were found in the frequency of genotypes and alleles between cows and breeding bulls in the 3 analysed polymorphic sites within the PRNP gene. Only 3 haplotypes were identified in sires and 4 haplotypes in cows.

4

Regulation of cytokine transcription in the context of chromatin

100%

Nikolajczyk B.

Archivum Immunologiae et Therapiae Experimentalis

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2006

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tom 54

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nr 5

295-305

EN

Understanding the transcriptional regulation of an important class of innate and adaptive immune system effector molecules, the cytokines, is increasingly important given the promise cytokine regulation holds for treating various autoimmune and inflammatory diseases. Studies defining the mechanisms regulating cytokine transcription initially focused on identifying the cis-acting elements and trans-acting factors that activate cytokine promoters and enhancers. In the past, these studies were largely completed in the absence of constraints instituted by cellular chromatin. Over the past decade it has become obvious that changes in chromatin accessibility critically control, rather than simply correlate with, the transcriptional activation of most genes, including cytokines. Hence candidate transcriptional activators are being re-evaluated for potency in the context of cellular chromatin. Several distinct mechanisms for manipulating the generally repressive context of chromatin have been identified for cytokine genes. Most recently, single nucleotide polymorphisms in cytokine transcriptional regulatory elements have been shown to play measurable roles in regulating cytokine levels in the context of naturally selected haplotypes. Overall, subtle differences in DNA sequence and nucleoprotein complex composition, including protein post-translational modification, come together in cell type-specific combinations to explain the normal variation in cytokine transcription throughout the human populace.

5

Family-based association analysis of the MAPT gene in Parkinson disease

100%

Wang K. S. , Mullersman J. E. , Liu X. F.

Journal of Applied Genetics

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2010

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tom 51

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nr 4

509-514

EN

The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 with PD and age at onset, by using 443 discordant sib pairs in PD from a public dataset (Mayo-Perlegen LEAPS Collaboration). Association with PD was assessed by the FBAT using generalized estimating equations (FBAT-GEE), while the association with age at onset as a quantitative trait was evaluated using the FBAT-logrank statistic. Five SNPs were significantly associated with PD (P < 0.05) in an additive model, and 9 SNPs were associated with PD (P < 0.05) in dominant and recessive models. Interestingly, 8 PD-associated SNPs were also associated with age at onset of PD (P < 0.05) in dominant and recessive models. The SNP most significantly associated with PD and age at onset was rs17649641 (P = 0.015 and 0.021, respectively). Two-SNP haplotypes inferred from rs17563965 and rs17649641 also showed association with PD (P = 0.018) and age at onset (P = 0.026). These results provide further support for the role of MAPT in development of PD.

6

Deletion/insertion polymorphism of the prion protein gene (PRNP) in Polish Holstein-Friesian cattle

100%

Czarnik U. , Zabolewicz T. , Strychalski J. , Grzybowski G. , Bogusz M. , Walawski K.

Journal of Applied Genetics

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2007

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tom 48

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nr 1

69-71

EN

The aim of the present study was to identify the deletion/insertion polymorphism of the bovine prion protein gene (PRNP) within the promoter sequence (23 bp), intron 1 (12 bp) and 3' untranslated region (14 bp). DNA was isolated from blood of 234 randomly tested Polish Holstein-Friesian cows and from semen of 47 sires used for artificial insemination (AI) in 2004. No statistically significant differences were found in the frequency of genotypes and alleles between cows and breeding bulls in the 3 analysed polymorphic sites within the PRNP gene. Only 3 haplotypes were identified in sires and 4 haplotypes in cows.

7

Sequence variants of chemokine receptor genes and susceptibility to HIV-1 infection

88%

Parczewski M. , Leszczyszyn-Pynka M. , Kaczmarczyk M. , Adler G. , Binczak-Kuleta A. , Loniewska B. , Boron-Kaczmarska A. , Ciechanowicz A.

Journal of Applied Genetics

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2009

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tom 50

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nr 2

159-165

EN

Genetic susceptibility to HIV infection was previously proven to be influenced by some chemokine receptor polymorphisms clustering on chromosome 3p21. Here the influence of 5 genetic variants was studied: D32 CCR5, G(?2459)A CCR5, G190A CCR2, G744A CX3CR1 and C838T CX3CR1. They were screened in a cohort of 168 HIV-1 positive adults [HIV(+) group] and 151 newborns [control group] from northwestern Poland. PCR-RFLP was performed to screen for the variants (except for D32 CCR5 polymorphism, where PCR fragment size was sufficient to identify the alleles) and then electrophoresed on agarose gel to determine fragment size. Distribution of genotypes and alleles was not significantly different between the groups except for the CCR5 polymorphisms, with the D32 allele and the (?2459)A CCR5 allele more frequent among neonates than in the HIV(+) group. No D32/D32 homozygotes were found in the HIV(+) group, but 16.1% were D32/wt heterozygotes. In the control group, 1.3% were D32/D32 homozygotes and 26.0% were D32/wt heterozygotes. Linkage between the chemokine polymorphisms was calculated using the most informative loci for haplotype reconstruction. Haplotypes containing D32 CCR5, 190G CCR2 and 744A CX3CR1 were found to be significantly more common in the control group. This suggests an association between these haplotypes and resistance to HIV-1 infection.

8

Associations between 2 paternal casein haplotypes and milk yield traits of Swiss Fleckvieh cattle

88%

Braunschweig M. H.

Journal of Applied Genetics

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2008

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tom 49

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nr 1

69-74

EN

Associations between casein haplotypes and milk yield traits of offspring from 5 Swiss Fleckvieh AI test bulls were investigated. The analysis was performed by using a daughter design, where each daughter inherited either paternal haplotype B-A1-A-A or B-A2-A-A for alleles of alpha s1-, beta, alpha s2- and -casein genes. The substitution effects of paternal CSN2 A1 versus A2 on protein yield deviations (YDs) were significant (P < 0.05), whereas their effects on milk and fat YDs were not. The paternal substitution effects of the CSN2 A1 versus the A2 allele on protein YDs within the 5 sires did not reach the significance level. This is due to the contrary allele substitution effect of a sire compared to the other 4 sires. The effects of maternal haplotypes on milk, protein and fat YDs were not significant. However, it is noteworthy that the effects of haplotypes with a low frequency in the population deviate largely from the most frequent haplotype B-A2-A-A. The effects of beta-lactoglobulin (BLG) genotypes were significant for protein YDs but not for milk and fat YDs. The association between the paternal CSN2 A1 and A2 alleles and milk protein YDs within sires but not milk and fat YDs indicate an interaction, which might be a consequence of CSN2 heterogeneity or a closely linked gene that is contributing to the estimated effects.

9

A review of asthma genetics: gene expression studies and recent candidates

75%

Malerba G. , Pignatti P. F.

Journal of Applied Genetics

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2005

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tom 46

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nr 1

93-104

EN

Recent evidence indicates an important role of inflammation pathways, airways remodeling and epithelium activation in asthma genetics. In particular, transcriptome studies have detected differentially expressed genes involved in eosinophil apoptosis, the arginase pathway, response to allergens or interleukins, and to inhaled corticosteroids. Candidate gene and genome wide studies have localized genetic regions involved in the disease, such as the A1AR and CLCA1 genes (chromosome 1), IL-1RN and DPP10 (2q14), HLA-G and TNF- (6p21), GPRA (7p14), FcRI and GSTP1 (11q13), NOS1, IFNG, STAT6, VDR, and other genes (12q13-26), PHF11 and flanking genes (13q14), AACT and PTGDR (14q), and ADAM33 (20p13). The role of these and other genetic determinants has to be confirmed in future, preferably longitudinal, studies.