P061Allele-level genotyping of KIR2DL4 in large european population samples reveals highly significant heterozygote excess for 9A/10A allelic variants

2018 ◽  
Vol 79 ◽  
pp. 106
Author(s):  
Gerhard Schöfl ◽  
Jürgen Sauter ◽  
Steffen Klasberg ◽  
Alexander H. Schmidt ◽  
Vinzenz Lange
2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 406.2-407
Author(s):  
K. Pavelcova ◽  
J. Bohata ◽  
B. Stiburkova

Background:The level of uric acid is largely determined by the functions of urate transporters, which are located in the kidney and intestine. The ABCG2 protein is the major excretor of uric acid and its dysfunction may lead to the development of hyperuricemia and gout.Objectives:The aim of our study was to detect the occurrence and frequency of allelic variants in the ABCG2 gene that can lead to impaired function of the ABCG2 protein and to the development of hyperuricemia and gout.Methods:We examined allelic variants of ABCG2 using PCR amplification and Sanger sequencing of all coding regions and exon-intron boundaries in 359 patients with primary hyperuricemia and gout.Results:We found a rare in-frame deletion p.K360del and 15 missense variants, two of which were common (p.V12M, p.Q141K) and 13 were very rare (p.M71V, p.G74D, p.M131I, p.R147W, p.T153M, p.I242T, p.R236X, p.F373C, p.T421A, p.T434M, p.S476P, p.S572R, p.D620N). The p.R236X variant leads to a premature stop codon. The p.V12M variant probably has a protective effect against gout (minor allele frequency – MAF – in our cohort = 0,025 / MAF in the European population = 0,061), while the p.Q141K variant increases the risk of gout (MAF in our cohort = 0,213 / MAF in the European population = 0,094) (1). As for the rare variants, the p.R147W, p.T153M, p.F373C, p.T434M, p.S476P and p.S572R according to functional analyzes reduce the function of the ABCG2 protein (2). Based on in silico prediction, the impact on reduced function is expected for variants p.M71V, p.G74D, p.M131I, p.R147W, p.I242T, p.F373C, p.T434M, p.S476P and p.S572R.Conclusion:Our data suggest that the common variant p.Q141K and most of the rare variants in the ABCG2 gene affect the function of the ABCG2 urate transporter and are a genetic risk factor for hyperuricemia and gout.References:[1]Stiburkova B, et al. Functional non-synonymous variants of ABCG2 and gout risk. Rheumatology (Oxford). 2017 Nov 1; 56(11):1982-1992.[2]Toyoda Y, et al. Functional characterization of clinically-relevant rare variants in ABCG2 identified in a gout and hyperuricemia cohort. Cells. 2019 Apr 18;8(4).Acknowledgements:This study was supported by the project for conceptual development of research organization 00023728 (Institute of Rheumatology) and RVO VFN64165.Disclosure of Interests:None declared


2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Julie Bienertová-Vašků ◽  
Filip Zlámal ◽  
Aneta Pohořalá ◽  
Ondřej Mikeš ◽  
Monika Goldbergová-Pávková ◽  
...  

2012 ◽  
Vol 142 (8) ◽  
pp. 1403-1409 ◽  
Author(s):  
Markéta Pavlíková ◽  
Jitka Sokolová ◽  
Bohumila Janošíková ◽  
Petra Melenovská ◽  
Lucie Krupková ◽  
...  

2001 ◽  
Vol 120 (5) ◽  
pp. A607-A607
Author(s):  
N BROUTET ◽  
M PLEBANI ◽  
C SAKAROVITCH ◽  
P SIPPONEN

2016 ◽  
Vol 86 (5-6) ◽  
pp. 242-248 ◽  
Author(s):  
Genc Burazeri ◽  
Jolanda Hyska ◽  
Iris Mone ◽  
Enver Roshi

Abstract.Aim: To assess the association of breakfast skipping with overweight and obesity among children in Albania, a post-communist country in the Western Balkans, which is undergoing a long and difficult political and socioeconomic transition towards a market-oriented economy. Methods: A nationwide cross-sectional study was carried out in Albania in 2013 including a representative sample of 5810 children aged 7.0 – 9.9 years (49.5% girls aged 8.4 ± 0.6 years and 51.5% boys aged 8.5 ± 0.6 years; overall response rate: 97%). Children were measured for height and weight, and body mass index (BMI) calculated. Cut-off BMI values of the World Health Organization (WHO) and the International Obesity Task Force (IOTF) were used to define overweight and obesity in children. Demographic data were also collected. Results: Upon adjustment for age, sex, and place of residence, breakfast skipping was positively related to obesity (WHO criteria: OR = 1.5, 95% CI = 1.3–1.9; IOTF criteria: OR = 1.9, 95% CI = 1.4–2.5), but not overweight (OR = 1.1, 95% CI = 0.9–1.3 and OR = 1.1, 95% CI = 0.9–1.4, respectively). Furthermore, breakfast skipping was associated with a higher BMI (multivariable-adjusted OR = 1.05, 95% CI = 1.02–1.07). Conclusions: Our findings point to a strong and consistent positive relationship between breakfast skipping and obesity, but not overweight, among children in this transitional southeastern European population. Future studies in Albania and other transitional settings should prospectively examine the causal role of breakfast skipping in the development of overweight and obesity.


2011 ◽  
Vol 39 (3) ◽  
pp. 386-393 ◽  
Author(s):  
E. Martínez-Cruz ◽  
E. Espitia-Rangel ◽  
H. Villaseñor-Mir ◽  
J. Molina-Galán ◽  
I. Benítez-Riquelme ◽  
...  

2018 ◽  
Vol 51 ◽  
pp. 185-192
Author(s):  
S. Kruhlyk ◽  
V. Dzitsiuk ◽  
V. Spyrydonov

Genetic variability of domestic dogs is a source for effective process of breed formation and creating unique gene complexes. In the world, for preservation of genetic resources of dogs, there are dog training associations which have great confidence: American Club Dog Breeders (AKC), the British Kennel Club (KC) and the Federation Cynologique Internationale (FCI), aimed at protecting breeding dogs, standards creation, registration of a breed, and issuance of accurate pedigrees. Evaluation of the genetic diversity of dog breeds is able to significantly complement and improve their breeding programs. Since breeds of dog differ in morphological and economic characteristics, the problem of finding of the breed features in the genome of animals is becoming more topical. From this point of view, French Bulldog is an interesting breed of dog (FRANC.BULLDOGGE, FCI standard number 101) which belongs by the classification of breeds, adopted in FCI, to the group IX – a dog-companion for health and fun, but to a subgroup of fighting dogs of a small format. French Bulldog breed has been researched slightly not only in Ukraine and also abroad, as the main work of all dog association is focused on solving theoretical and practical issues of breeding, keeping, feeding, veterinary protection and others. The study was conducted at Research Department of Molecular Diagnostic Tests of Ukrainian Laboratory of Quality and Safety of Agricultural Products. 33 animals of French Bulldog breed, admitted to use in dog breeding of Ukrainian Kennel Union (UKU), were involved for the genetic analysis using DNA markers. The materials of the research were buccal epithelial cells, selected before the morning feeding of animals by scraping mucous membrane of oral cavity with disposable, dry, sterile cotton swab. Genomic DNA was extracted using KIT-set of reagents for DNA isolation according to the manufacturer's instructions. PEZ1, PEZ3, PEZ6, PEZ8, FHC 2010, FHC 2054 markers, recommended by International Society for Animal Genetics (ISAG), ACN, КC and FCI, were used for research. As a result of research 25 alleles for all the loci were detected in the experimental sample of dogs. The average number of alleles at the locus Na, obtained by direct counting, was 4.16. The most polymorphic loci for this breed were PEZ6 and PEZ3 with 8 and 6 allelic variants. Monomorphic loci were PEZ8 and FHC 2054 which had 4 and 3 alleles and the lowest level of polymorphism was observed for PEZ 1 and FHC 2010 loci in which only 2 alleles were identified. On analyzing the molecular genetic characteristics of dogs of French Bulldog breed, we found a high variability of genotype on rare alleles, which included alleles: M, C, D, E, J, K, L, O, N and representing 60% of the total number of the identified alleles. C, D, E alleles for PEZ3 locus and O allele at PEZ6 locus are unique to the sampling of dogs because they are not repeated in other loci. Typical alleles: N, F, R, I, P, K, M are 40% of the total. But F, R alleles for PEZ3 locus and P allele for locus PEZ6 are not repeated either in standard allelic variants or in rare one, indicating a high information content of these alleles and loci to be used for further monitoring of allele pool, genetic certification and identification of dogs. Microsatellite DNA loci were analyzed as a result of investigations of French Bulldogs and the most informative: PEZ3, PEZ6 and PEZ8 were found, which have high efficiency in individual and breed certification of dogs due to high variability. These data allow further monitoring of the state of genetic diversity of the breed and the development of measures for improvement of breeding to preserve the structure of breeding material. The study of individual and population genetic variability is advisable to continue for breeding of French Bulldogs "in purity" and preserving valuable gene complexes. The results are the basis for further monitoring of the proposed informative panels of microsatellite DNA markers for genotyping dog of French Bulldog breed and their complex evaluation.


2019 ◽  
Vol 54 (1) ◽  
pp. 45
Author(s):  
Grzegorz Maciorowski ◽  
Jakub Kosicki ◽  
Michał Polakowski ◽  
Maria Urbańska ◽  
Piotr Zduniak ◽  
...  

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