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1

'Treasure your exceptions': recent advances in molecular genetics of glomerular disease

100%
Ciechanowicz A., Brodkiewicz A., Binczak-Kuleta A., Parczewski M., Czekalski S.
Journal of Applied Genetics
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2008
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vol. 49
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issue 1
93-99
EN
The glomerular filtration barrier consists of endothelial cells, the glomerular basement membrane, and podocytes. The membrane is a highly crosslinked macromolecular meshwork composed of specific extracellular matrix proteins. The adjacent foot processes of podocytes are bridged along their basolateral surfaces by a slit diaphragm (a porous filter structure of nephrin molecules). Recent discoveries of mutations in the range of genes encoding proteins involved in the structure or function of the glomerular filtration barrier have provided new insights into mechanisms of glomerular diseases. In this review, we summarize recent progress in the elucidation of the genetic basis of some glomerulopathies in humans.
2

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

86%
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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vol. 50
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issue 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.
3

DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study

86%
Binczak-Kuleta A., Rozanski J., Domanski L., Myslak M., Ciechanowski K., Ciechanowicz A.
Journal of Applied Genetics
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2006
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vol. 47
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issue 4
383-389
EN
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal disorders with genetic heterogeneity. Mutations of two known genes are responsible for this disease: PKD1 at 16p13.3 and PKD2 at 4q21?23. A majority of cases (85%) are caused by mutations in PKD1. Because direct mutation screening remains complex, we describe here the application of an efficient approach to studies based on highly informative dinucleotide and tetranucleotide repeats flanking genes PKD1 and PKD2. Methods: For this study a series of microsatellites closely linked to locus PKD1 (D16S291, D16S663, D16S665, D16S283, D16S407, D16S475) and to locus PKD2 (D4S1563, D4S2929, D4S414, D4S1534, D4S423) were selected. Short (81-242 bp) DNA fragments containing the tandem repeats were amplified by polymerase chain reaction (PCR). The number of repeat units of microsatelite markers was determined by fluorescent capillary electrophoresis. DNA microsatellite analysis was performed in 25 Polish ADPKD families and established the type of disease (21 families PKD1-type, 1 family PKD2-type). While a disease-causing mutation in the PKD1 and PKD2 genes cannot be identified, DNA microsatellite analysis provided an early diagnosis and may be considered in ADPKD families.
4

An age-related decrease in factor V Leiden frequency among Polish subjects

73%
Adler G., Parczewski M., Czerska E., Loniewska B., Kaczmarczyk M., Gumprecht J., Grzeszczak W., Szybinska A., Mossakowska M., Ciechanowicz A.
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vol. 51
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issue 3
337-341
EN
Factor V Leiden (G1691A FV mutation) is a widely acknowledged risk factor of deep vein thrombosis, including pulmonary embolism as the most serious complication. However, its high prevalence of ~5% in the Caucasian population might be related to an unknown evolutionary advantage. It might exert a beneficial effect on the carrier, e.g. protecting women from excessive bleeding during labour or allowing increased survival in severe sepsis or with other inflammatory diseases. The aim of our study was to verify or contradict the hypothesis of a favourable association between the A allele (A1691) and longevity in the Polish population. For this purpose, the G1691A mutation was analyzed by PCR-RFLP in 1016 Poles: 400 neonates (187 female and 312 male), 184 healthy adults (129 female and 55 male), and 432 long-lived individuals (age 95 years: 343 women and 89 men). Frequencies of G1691A carriers and the A1691 allele in long-lived individuals (0.2% and 0.1%, respectively) were significantly lower than in neonates (4.2% and 2.2%, respectively) and adults (3.3% and 1.6%). The frequency of the G1691A factor V Leiden mutation decreased with age, which indicates a shorter survival time among A1691 allele carriers in the Polish population.
5

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

73%
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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vol. 50
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issue 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.
6

Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland

73%
Adler G., Widecka K., Peczkowska M., Dobrucki T., Placha G., Drozd R., Parczewski M., Januszewicz A., Gaciong Z., Ciechanowicz A.
Journal of Applied Genetics
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2005
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vol. 46
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issue 3
329-333
EN
Glucocorticoid-remediable aldosteronism (GRA), also known as familial hyperaldosteronism type I (FH-I, OMIM 103900), is a monogenic form of inherited hypertension caused by the presence of a chimaeric gene originating from an unequal cross-over between the CYP11B1 (11?-hydroxylase) and CYP11B2 (aldosterone synthase) genes. The hybrid gene has the CYP11B1 sequence at the 5' end, including the promoter, and the CYP11B2 sequence at the 3' end. The aim of our study was to evaluate the prevalence of GRA in a Polish population of 129 patients with primary hyperaldosteronism (PHA) and 132 patients with essential hypertension (EH), through the use of a PCR-based test revealing the chimaeric gene. None of our PHA or EH patients was positive for the CYP11B1/CYP11B2 chimaeric gene. These data suggest that GRA is unlikely to be a common cause of hypertension in Polish subjects. However, the real prevalence of GRA in Poland, both in the high-risk group of individuals with primary hyperaldosteronism and in the general population, remains to be established.
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