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The -112G>A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves' disease in subsets of patients with elevated levels of immunoglobulin E.

https://arctichealth.org/en/permalink/ahliterature138513
Source
J Appl Genet. 2011 May;52(2):201-7
Publication Type
Article
Date
May-2011
Author
Dimitry A Chistiakov
Natalia V Voronova
Rust I Turakulov
Kirill V Savost'anov
Author Affiliation
Department of Molecular Diagnostics, National Research Center GosNIIgenetika, 1st Dorozhny Proezd 1, 117545, Moscow, Russia. dimitry.chistiakov@lycos.com
Source
J Appl Genet. 2011 May;52(2):201-7
Date
May-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Asthma - genetics
Case-Control Studies
Female
Genetic Association Studies
Genetic markers
Genetic Predisposition to Disease
Genotype
Graves Disease - epidemiology - genetics
Humans
Hypersensitivity - genetics
Immunoglobulin E - blood
Male
Odds Ratio
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Russia - epidemiology
Secretoglobins
Sequence Analysis, DNA
Uteroglobin - blood - genetics
Young Adult
Abstract
The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a susceptibility locus to several autoimmune and inflammatory diseases, including asthma and Graves' disease (GD). Recently, association between the marker rs1368408 (-112G?>A), located in the promoter region of the SCGB3A2 gene, and susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to evaluate whether this polymorphism confers GD susceptibility in a large population cohort comprising 1,474 Russian GD patients and 1,619 controls. The marker rs1368408 was studied using a TaqMan allele discrimination assay. Serum levels of UGRP1 and immunoglobulin E (IgE) were assessed using enzyme-linked immunosorbent assay (ELISA) analyses. Association between the allele A of SCGB3A2 and a higher risk of GD (odds ratio [OR] = 1.33, P = 2.9 × 10(-5)) was shown. Both affected and non-affected carriers of the higher risk genotype A/A had significantly decreased levels of serum UGRP1 compared to the subjects homozygous for G/G (93 ± 37 pg/ml vs. 132 ± 45 pg/ml, P = 0.0011 for GD patients; 77 ± 28 pg/ml vs. 119 ± 33 pg/ml, P = 0.0019 for controls). Serum IgE levels were significantly higher in non-affected subjects homozygous for A/A compared to control individuals homozygous for G/G (153 ± 46 IU/ml vs. 122 ± 40 IU/ml, P = 0.0095). Our data suggest that the carriage of the SCGB3A2 -112A/A variant increases the risk for GD in subsets of patients with elevated levels of IgE, a hallmark of allergic asthma. Therefore, the SCGB3A2 -112G?>A polymorphism may be considered as a likely marker linking susceptibility to allergy/asthma and GD on chromosome 5q31-33.
PubMed ID
21170691 View in PubMed
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Confirmation of a susceptibility locus for diabetic nephropathy on chromosome 3q23-q24 by association study in Russian type 1 diabetic patients.

https://arctichealth.org/en/permalink/ahliterature178427
Source
Diabetes Res Clin Pract. 2004 Oct;66(1):79-86
Publication Type
Article
Date
Oct-2004
Author
Dimitry A Chistiakov
Kirill V Savost'anov
Marina V Shestakova
Lyudmila A Chugunova
Minara Sh Samkhalova
Ivan I Dedov
Valery V Nosikov
Author Affiliation
Laboratory of Aquatic Ecology, Katholieke Universiteit Leuven, Ch. de Beriotstraat 32, B-3000 Leuven, Belgium. dimitry.chistiakov@bio.kuleuven.ac.be
Source
Diabetes Res Clin Pract. 2004 Oct;66(1):79-86
Date
Oct-2004
Language
English
Publication Type
Article
Keywords
Adult
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Diabetes Mellitus, Type 1 - genetics
Diabetic Nephropathies - genetics
European Continental Ancestry Group
Female
Genetic markers
Genetic Predisposition to Disease - genetics
Humans
Male
Polymorphism, Genetic
Russia
Abstract
Family-based studies and segregation analyses suggest that inherited factors play a significant role in susceptibility to diabetic nephropathy (DN). Moczulski et al. [Diabetes 47 (1998) 1164-1169] found a susceptibility locus for DN in type 1 diabetes covering a 20cM region on chromosome 3q, with a peak of linkage close to the angiotensin II type 1 receptor (AT1) gene. We examined eight polymorphic markers (D3S1512, D3S1550, D3S1557, D3S1744, D3S2326, D3S3599, D3S3694, and a (CA)(n) dinucleotide repeat polymorphism in the 3' flanking region of the AT1 gene) spanning about 6.2 megabases (Mb) in the region of maximal linkage with DN on chromosome 3q23-q24. The markers were used to genotype a total of 381 Russian type 1 diabetic subjects, 195 of whom had DN and 186 had no clinical nephropathy. Four of the markers tested, D3S1512, D3S1550, D3S2326, and D3S3599, showed an association with DN in type 1 diabetes mellitus. These markers are located within a 1.0Mb interval that starts about 4.4Mb centromeric to the AT1 gene. Thus, our results suggest the existence of the DN susceptibility locus previously described by Moczulski et al. on chromosome 3q.
PubMed ID
15364165 View in PubMed
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Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set.

https://arctichealth.org/en/permalink/ahliterature175129
Source
J Autoimmun. 2005 May;24(3):243-50
Publication Type
Article
Date
May-2005
Author
Dimitry A Chistiakov
Yuri A Seryogin
Rustam I Turakulov
Kirill V Savost'anov
Elena V Titovich
Lyubov' I Zilberman
Tamara L Kuraeva
Ivan I Dedov
Valery V Nosikov
Author Affiliation
Laboratory of Aquatic Ecology, Katholieke Universiteit Leuven, B-3000 Leuven, Belgium.
Source
J Autoimmun. 2005 May;24(3):243-50
Date
May-2005
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Chromosomes, Human, Pair 6 - genetics
Diabetes Mellitus, Type 1 - genetics
Family
Female
Genetic Predisposition to Disease
Humans
Male
Polymorphism, Single Nucleotide
Quantitative Trait Loci - genetics
Russia
Abstract
Type 1 diabetes (T1D) susceptibility locus, IDDM8, has been accurately mapped to 200 kilobases at the terminal end of chromosome 6q27. This is within the region which harbours a cluster of three genes encoding proteasome subunit beta 1 (PMSB1), TATA-box binding protein (TBP) and a homologue of mouse programming cell death activator 2 (PDCD2). In this study, we evaluated whether these genes contribute to T1D susceptibility using the transmission disequilibrium test of the data set from 114 affected Russian simplex families. The A allele of the G/A1180 single nucleotide polymorphism (SNP) at the PDCD2 gene, which was significant in its preferential transfer from parents to diabetic children (75 transmissions vs. 47 non-transmissions, chi2=12.85, P corrected=0.0038), was found to be associated with T1D. G/A1180 dimorphism and two other SNPs, C/T771 TBP and G/T(-271) PDCD2, were shown to share three common haplotypes, two of which (A-T-G and A-T-T) have been associated with higher development risk of T1D. The third haplotype (G-T-G) was related to having a lower risk of disease. These findings suggest that the PDCD2 gene is a likely susceptibility gene for T1D within IDDM8. However, it was not possible to exclude the TBP gene from being another putative susceptibility gene in this region.
PubMed ID
15848047 View in PubMed
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Further studies of genetic susceptibility to Graves' disease in a Russian population.

https://arctichealth.org/en/permalink/ahliterature191108
Source
Med Sci Monit. 2002 Mar;8(3):CR180-4
Publication Type
Article
Date
Mar-2002
Author
Dimitry A Chistiakov
Kirill V Savost'anov
Rustam I Turakulov
Natal'ya Petunina
Mikhail I Balabolkin
Valery V Nosikov
Author Affiliation
INSERM U36, College de France, 121 rue Saint-Jacques, 75231 Paris Cedex 05, France. dimitry.chistiakov@eudoramail.com
Source
Med Sci Monit. 2002 Mar;8(3):CR180-4
Date
Mar-2002
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Amino Acids - chemistry
Estrogen Receptor alpha
Estrogen Receptor beta
Female
Genetic Predisposition to Disease
Genotype
Graves Disease - genetics
Heterozygote
Humans
Male
Microsatellite Repeats
Middle Aged
Polymorphism, Genetic
Receptors, Estrogen - genetics - metabolism
Receptors, Thyrotropin - blood - genetics
Russia
Abstract
Graves' disease (GD) is a polygenic autoimmune thyroid syndrome. Some of the genes implicated in its pathogenesis may encode thyroid-stimulating hormone receptor (TSHR) and estrogen receptors 1 (ESR1) and 2 (ESR2). We examined dinucleotide repeat polymorphisms in the ESR1 and ESR2 genes and D727E amino acid substitution in the TSHR gene for possible association with GD in a Russian population.
The polymorphic regions of the target genes were amplified by polymerase chain reaction (PCR) on the basis of genomic DNA isolated from blood of 78 unrelated Russian patients with GD and 93 control subjects. To detect the D727E TSHR polymorphism, the PCR product was additionally digested with Eco72I restriction endonuclease. The genotype and allele frequencies in the groups studied were compared by c2 test. The odds ratios and 95% confidence intervals (CI) were calculated to assess the strength of the relationship between the polymorphisms tested and GD.
For polymorphic dinucleotide microsatellites at ESR1 and ESR2, no significant difference was observed in allele frequencies between affected and nonaffected patients. For the D727E TSHR polymorphism, the E allele and the DE genotype were significantly more frequent (p
PubMed ID
11887032 View in PubMed
Less detail

Loss-of-function mutations E6 27X and I923V of IFIH1 are associated with lower poly(I:C)-induced interferon-ß production in peripheral blood mononuclear cells of type 1 diabetes patients.

https://arctichealth.org/en/permalink/ahliterature141303
Source
Hum Immunol. 2010 Nov;71(11):1128-34
Publication Type
Article
Date
Nov-2010
Author
Dimitry A Chistiakov
Natalia V Voronova
Kirill V Savost'Anov
Rustam I Turakulov
Author Affiliation
Department of Molecular Diagnostics, National Research Center, Moscow, Russia. dimitry.chistiakov@lycos.com
Source
Hum Immunol. 2010 Nov;71(11):1128-34
Date
Nov-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age of Onset
Child
DEAD-box RNA Helicases - genetics
Diabetes Mellitus, Type 1 - epidemiology - genetics - immunology
Disease Progression
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Interferon-beta - biosynthesis - genetics
Leukocytes, Mononuclear - immunology - metabolism - pathology
Lymphocyte Activation - genetics
Male
Mutation - genetics
Poly I-C - immunology - metabolism
Polymorphism, Genetic
Risk
Russia
Abstract
Melanoma differentiation-associated 5 (MDA5), a product of the IFIH1 gene, is responsible for sensing double-stranded viral double-stranded RNA (RNA). In this study, we showed a significant association of two rare IFIH1 variants, rs35744605 (E627X) and rs35667974 (I923V), with decreased risk of type 1 diabetes (T1D) in a Russian population (for the allele X627, odds ratio [OR] = 0.39, 95% confidence interval [95% CI] = 0.22-0.69, p = 0.0015; for the allele V923, OR = 0.45, 95% CI, 0.30-0.66, p = 5.4 × 10(-5)). We detected a 3.5-fold greater frequency of enteroviral RNA in T1D subjects compared with controls (p
PubMed ID
20736039 View in PubMed
Less detail

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

https://arctichealth.org/en/permalink/ahliterature265815
Source
Clin Chim Acta. 2014 Sep 25;436:112-20
Publication Type
Article
Date
Sep-25-2014
Author
Dimitry A Chistiakov
Kirill V Savost'anov
Lyudmila M Kuzenkova
Anait K Gevorkyan
Alexander A Pushkov
Alexey G Nikitin
Alexander V Pakhomov
Nato D Vashakmadze
Natalia V Zhurkova
Tatiana V Podkletnova
Nikolai A Mayansky
Leila S Namazova-Baranova
Alexander A Baranov
Source
Clin Chim Acta. 2014 Sep 25;436:112-20
Date
Sep-25-2014
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Animals
CHO Cells
Child
Cricetinae
Cricetulus
DNA Mutational Analysis
Female
Gene Expression Regulation, Enzymologic
Glycosaminoglycans - metabolism - urine
Humans
Male
Molecular Sequence Data
Mucopolysaccharidoses - enzymology - genetics - metabolism - urine
Russia
Abstract
The mucopolysaccharidoses (MPSs) are rare genetic disorders caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). In this study, we analyzed a total of 48 patients including MPSI (n=6), MPSII (n=18), MPSIIIA (n=11), MPSIVA (n=3), and MPSVI (n=10).
In MPS patients, urinary GAGs were colorimetrically assayed. Enzyme activity was quantified by colorimetric and fluorimetric assays. To find mutations, all IDUA, IDS, SGSH, GALNS, and ARSB exons and intronic flanks were sequenced. New mutations were functionally assessed by reconstructing mutant alleles with site-directed mutagenesis followed with expression of wild-type and mutant genetic variants in CHO cells, measuring enzymatic activity, and Western blot analysis of protein expression of normal and mutated enzymes in cell lysates.
A total of five novel mutations were found including p.Asn348Lys (IDUA) in MPSI, p.Tyr240Cys (GALNS) in MPSIVA, and three ARSB mutations (p.Gln110*, p.Asn262Lysfs*14, and pArg315*) in MPSVI patients. In case of mutations p.Asn348Lys, p.Asn262Lysfs*14, and p.Gln110*, no mutant protein was detected while activity of the mutant protein was
PubMed ID
24875751 View in PubMed
Less detail

The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.

https://arctichealth.org/en/permalink/ahliterature172566
Source
Autoimmunity. 2005 Jun;38(4):283-93
Publication Type
Article
Date
Jun-2005
Author
Dimitry A Chistiakov
Ana Chernisheva
Kirill V Savost'anov
Rustam I Turakulov
Tamara L Kuraeva
Ivan I Dedov
Valery V Nosikov
Author Affiliation
Laboratory of Aquatic Ecology, Katholieke Universiteit Leuven, Ch. De Beriotstraat 32, B-3000 Leuven, Belgium. dimitry.chistiakov@eudoramail.com
Source
Autoimmunity. 2005 Jun;38(4):283-93
Date
Jun-2005
Language
English
Publication Type
Article
Keywords
Adult
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 1 - genetics
DNA - chemistry - genetics
Diabetes Mellitus, Type 1 - genetics
Female
Genetic Predisposition to Disease
Humans
Male
Microsatellite Repeats
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Russia
Sequence Analysis, DNA
TATA-Binding Protein Associated Factors - genetics
Transcription Factor TFIID - genetics
Abstract
Type 1 diabetes (T1D) is a multifactorial autoimmune disease, with strong genetic component. Several susceptibility loci contribute to genetic predisposition to T1D. One of these loci have been mapped to chromosome 1q42 in UK and US joined affected family data sets but needs to be replicated in other populations. In this study, we evaluated sixteen microsatellites located on 1q42 for linkage with T1D in 97 Russian affected sibling pairs. A 2.7-cm region of suggestive linkage to T1D between markers D1S1644 and D1S225 was found by multipoint linkage analysis. The peak of linkage was shown for D1S2847 (P = 0.0005). Transmission disequilibrium test showed significant undertransmission of the 156-bp allele of D1S2847 from parents to diabetic children (28 transmissions vs. 68 nontransmissions, P = 0.043) in Russian affected families. A preferential transmission from parents to diabetic offspring was also shown for the T(-25) and T1362 alleles of the C/T(-25) and C/T1362 dimorphisms, both located at the TAF5L gene, which is situated 103 kb from D1S2847. Together with the A/C744 TAF5L SNP, these markers share common T(-25)/A744/T1362 and C(-25)/C744/T1362 haplotypes associated with higher and lower risk of diabetes (Odds Ratio = 2.15 and 0.62, respectively). Our results suggest that the TAF5L gene, encoding TAF5L-like RNA polymerase II p300/CBP associated factor (PCAF)-associated factor, could represent the susceptibility gene for T1D on chromosome 1q42 in Russian affected patients.
PubMed ID
16206511 View in PubMed
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7 records – page 1 of 1.