scholarly journals Effect of single-nucleotide polymorphisms on specific reproduction parameters in Hungarian Large White sows

2019 ◽  
Vol 67 (2) ◽  
pp. 256-273
Author(s):  
Eszter Erika Balogh ◽  
György Gábor ◽  
Szilárd Bodó ◽  
László Rózsa ◽  
József Rátky ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mixed Model ◽  
Chromosome 8 ◽  
Chromosome 1 ◽  
Nucleotide Polymorphisms ◽  
Large White ◽  
Single Nucleotide ◽  
Litter Weight ◽  
Minor Alleles ◽  
Data Screening

The aim of this study was to reveal the effect of single-nucleotide polymorphisms (SNPs) on the total number of piglets born (TNB), the litter weight born alive (LWA), the number of piglets born dead (NBD), the average litter weight on the 21st day (M21D) and the interval between litters (IBL). Genotypes were determined on a high-density Illumina Porcine SNP 60K BeadChip. Data screening and data identification were performed by a multi-locus mixed-model. Statistical analyses were carried out to find associations between individual genotypes of 290 Hungarian Large White sows and the investigated reproduction parameters. According to the analysis outcome, three SNPs were identified to be associated with TNB. These loci are located on chromosomes 1, 6 and 13 (−log10P = 6.0, 7.86 and 6.22, the frequencies of their minor alleles, MAF, were 0.298, 0.299 and 0.364, respectively). Two loci showed considerable association (−log10P = 10.35 and 10.46) with LWA on chromosomes 5 and X, the MAF were 0.425 and 0.446, respectively. Seven loci were found to be associated with NBD. These loci are located on chromosomes 5, 6, 13, 14, 15, 16 and 18 (−log10P = 10.95, 5.43, 8.29, 6.72, 6.81, 5.90, and 5.15, respectively). One locus showed association (−log10P = 5.62) with M21D on chromosome 1 (the MAF was 0.461). Another locus was found to be associated with IBL on chromosome 8 (−log10P = 7.56; the MAF was 0.438). The above-mentioned loci provide a straightforward possibility to assist selection by molecular tools and, consequently, to improve the competitiveness of the Hungarian Large White (HLW) breed.

scholarly journals Effect of single-nucleotide polymorphisms on the breeding value of fertility and breeding value of beef in Hungarian Simmental cattle

2018 ◽  
Vol 66 (2) ◽  
pp. 215-225 ◽  
Author(s):  
István Anton ◽  
Balázs Húth ◽  
Imre Füller ◽  
György Gábor ◽  
Gabriella Holló ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mixed Model ◽  
Breeding Value ◽  
Nucleotide Polymorphisms ◽  
Molecular Tools ◽  
Single Nucleotide ◽  
Chip Data ◽  
Minor Alleles ◽  
Simmental Cattle ◽  
Data Screening

The objective of this study was to estimate the effect of single-nucleotide polymorphisms (SNPs) on the breeding value of fertility (BVF) and the breeding value of beef (BVB) in Hungarian Simmental cattle. Genotypes were determined on a high-density Illumina Bovine DNA Chip. Data screening and data identification were performed by multi-locus mixed-model. Statistical analyses were carried out to find associations between individual genotypes and the investigated quality values. Three loci showed considerable association with BVF (–log10 P = 9.5, 9.9 and 14.5, respectively) on chromosomes 9, 28 and 29, respectively. The frequencies of their minor alleles (MAF) were 0.375, 0.355 and 0.354, respectively. Two loci showed association with BVB (–log10 P = 25.3 and 22.7) on chromosomes 2 and 11, respectively (their MAF were 0.438 and 0.229). The abovementioned loci provide a straightforward possibility to assist selection by molecular tools.

scholarly journals Associations of fifty single nucleotide polymorphisms within candidate genes with meatness in pigs

2014 ◽  
Vol 59 (No. 5) ◽  
pp. 227-237 ◽  
Author(s):  
A. Borowska ◽  
T. Szwaczkowski ◽  
M. Koćwin-Podsiadła ◽  
S. Kamiński ◽  
A. Ruść ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Linear Model ◽  
Generalized Linear Model ◽  
Continuous Variable ◽  
Chromosome 1 ◽  
Nucleotide Polymorphisms ◽  
Entropy Analysis ◽  
Large White ◽  
Single Nucleotide

The objective of the paper was to classify 50 SNPs (from 17 chromosomes) according to their contribution to the meatness of 293 boars of two breeds (Polish Landrace and Polish Large White) using entropy analysis and standard association analysis. The collected data were classified into two groups (according to the official EUROP procedure) and used for entropy analysis. Associations of single genotypes versus their groups (located at single chromosomes) with the trait studied were estimated by the use of the Generalized Linear Model (GLM). Thus meatness was included as a continuous variable. The most important contributions have been estimated by both approaches for the following SNPs: SULT1A1:g.76G>A (SSC3), PKLR:g.384C>T (SSC4), MYOD1:c.566G>C (SSC2), TNNT3:g.153T>C (SSC2), GAA:g.38T>C (SSC12), LDLRR1:c.459A>G (SSC8), MYF6:g.255T>C (SSC5), CAS:g.499A>C (SSC2), PPARGC:c.678T>A (SSC15). Moreover, interactions among some studied loci are suggested, especially for the loci at chromosome 1.  

scholarly journals The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Annalisa Lonetti ◽  
Valentina Indio ◽  
Irma Dianzani ◽  
Ugo Ramenghi ◽  
Lydie Da Costa ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Glucocorticoid Receptor ◽  
Compensatory Mechanism ◽  
Nucleotide Polymorphisms ◽  
Disease Manifestation ◽  
Single Nucleotide ◽  
Diamond Blackfan Anemia ◽  
Glucocorticoid Response ◽  
Minor Alleles ◽  
Population Demographic

NR3C1, the gene encoding the glucocorticoid receptor, is polymorphic presenting numerous single nucleotide polymorphisms (SNPs) some of which are emerging as leading cause in the variability of manifestation and/or response to glucocorticoids in human diseases. Since 60–80% of patients with Diamond Blackfan anemia (DBA), an inherited pure red cell aplasia induced by mutations in ribosomal protein genes became transfusion independent upon treatment with glucocorticoids, we investigated whether clinically relevant NR3C1 SNPs are associated with disease manifestation in DBA. The eight SNPs rs10482605, rs10482616, rs7701443, rs6189/rs6190, rs860457, rs6198, rs6196, and rs33388/rs33389 were investigated in a cohort of 91 European DBA patients. Results were compared with those observed in healthy volunteers (n=37) or present in public genome databases of Italian and European populations. Although, cases vs. control analyses suggest that the frequency of some of the minor alleles is significantly altered in DBA patients with respect to healthy controls or to the Italian or other European registries, lack of consistency among the associations across different sets suggests that overall the frequency of these SNPs in DBA is not different from that of the general population. Demographic data (47 females and 31 males) and driver mutations (44 S and 29 L genes and eight no-known mutation) are known for 81 patients while glucocorticoid response is known, respectively, for 81 (36 responsive and 45 non-responsive) and age of disease onsets for 79 (55 before and 24 after 4months of age) patients. Neither gender nor leading mutations were associated with the minor alleles or with disease manifestation. In addition, none of the SNPs met the threshold in the response vs. non-responsive groups. However, two SNPs (rs6196 and rs860457) were enriched in patients manifesting the disease before 4months of age. Although the exact biomechanistical consequences of these SNPs are unknown, the fact that their configuration is consistent with that of regulatory regions suggests that they regulate changes in glucocorticoid response during ontogeny. This hypothesis was supported by phosphoproteomic profiling of erythroid cells expanded ex vivo indicating that glucocorticoids activate a ribosomal signature in cells from cord blood but not in those from adult blood, possibly providing a compensatory mechanism to the driving mutations observed in DBA before birth.

Association between Single Nucleotide Polymorphisms of Atp2B1 Gene and Bone Parameters of Laying Hens

2018 ◽  
Vol 11 (3) ◽  
pp. 178-182
Author(s):  
Eliska Horecka ◽  
Cenek Horecky ◽  
Lenka Kovarikova ◽  
Anna Musilova ◽  
Ales Knoll ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Egg Production ◽  
Laying Hens ◽  
Compact Bone ◽  
Chromosome 1 ◽  
Nucleotide Polymorphisms ◽  
Bone Thickness ◽  
Single Nucleotide ◽  
Experimental Group ◽  
Exon 10

Experiments were performed in 110 ISA Brown egg production hens (Gallus gallus), kept from 15 to 26 weeks of age in enriched (furnished) housing technology. The present objective was to investigate the presence of single nucleotide polymorphisms (SNPs) of the ATP2B1 gene and their effects on calcium homeostasis in laying hens. The plasma membrane calcium-transporting ATPase 1 gene (ATP2B1) in hens is located on chromosome 1, region 43 273 706 – 43 305 815 bp. The ATP2B1 gene has 21 exons, and in this study three were genotyped. In each experimental group of animals, only alleles without deletions in exon 10 and only allele A in exon 12 were found. In exon 8, only genotypes CC/CC, TT/CC and TT/TT were found. These genotypes are associated with femur breaking strength, bone diameter, bone marrow diameter and compact bone thickness. No significant effects of SNPs in exon 8 on bone characteristics were found.

scholarly journals Identification of 1093-bp intron A, SNPS and indels discovered in the porcine pregnancy-associated glycoprotein 2-like (pPAG2-L) gene subfamily in pigs

Genetika ◽  
2020 ◽  
Vol 52 (3) ◽  
pp. 851-866
Author(s):  
Martyna Bieniek-Kobuszewska ◽  
Grzegorz Panasiewicz ◽  
Bożena Szafranska
Keyword(s):  
Genetic Variation ◽  
Single Nucleotide Polymorphisms ◽  
General Knowledge ◽  
Nucleotide Polymorphisms ◽  
Porcine Genome ◽  
Large White ◽  
Bac Clone ◽  
Single Nucleotide ◽  
Noncoding Regions ◽  
Gene Subfamily

The objective of this study was to identify the intron A sequence (between exons 1 and 2) of pPAG2-L, novel single nucleotide polymorphisms (SNPs) and mutations (InDels) within intron A in the crossbreed (Landrace x Large White), Hirshmann hybrid and Duroc pigs. Genomic templates were isolated from leukocytes, amplified, and the gel-out were purified and then sequenced. Positive amplification control included CH242-60C13 BAC clone (Duroc) containing pPAG1-L and pPAG2-L. This is the first report that describes the 1093-bp intron A sequence from the pPAG2-L (Acc. No. KF471015; GenBank), which increased general knowledge of the porcine genome. Novel SNPs/InDels were identified within the intron A of the pPAG2-L in the crossbreeds (72), Duroc (45) and Hirshmann hybrids (17). This is a pioneer study describing identification of the intron A and SNPs/InDels in crossbreeds that provides a novel major pattern that represents a large portion of the genetic variation within the porcine genome. This information should be valuable when genotyping (coding and noncoding regions) multiparous sows from many breeds, in which reproductive phenotypes are known.

scholarly journals Association of DEAR1 Tagging Single Nucleotide Polymorphisms With Breast Cancer in a Sample of Colombian Population: A Case Control Study

2020 ◽  
Vol 14 ◽  
pp. 117822342090493
Author(s):  
Angela P Beltrán ◽  
Edgar Benitez ◽  
Martin Rondon ◽  
Yeimy V Ariza ◽  
Fabio A Aristizabal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Logistic Regression ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Conditional Logistic Regression ◽  
Case Control ◽  
Chromosome 1 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Control Study

Purpose: Ubiquitin ligase genes can act as oncogenes or tumor suppressor genes. They play a role in various diseases, including development and progression of breast cancer; the objective of this study was to evaluate the association of common variants in the ductal-epithelium-associated RING chromosome 1 ( DEAR1) gene with breast cancer risk in a sample of Colombian population. Methods: We carried out a case-control study to investigate associations of variants in DEAR1 with breast cancer in women from Colombia. Single nucleotide polymorphisms (SNPs) rs584298, rs2927970, rs59983645, and rs599167 were genotyped in 1022 breast cancer cases and 1023 healthy controls using the iPLEX® and Kompetitive Allele Specific PCR (polymerase chain reaction) (KASP) method. The associations between SNPs and breast cancer were examined by conditional logistic regression. The associations between SNPs and epidemiological/histopathological variables were examined by multinomial logistic regression. Results: Associations were found between tag SNPs and breast cancer adjusted for the epidemiological risk factors rs584298 genotypes AG and GG ( P = .048 and P = .004, respectively). The analysis of the disease characteristics showed that SNP rs584298 (genotype AG) ( P = .015) shows association with progesterone receptor (PR) status and (genotype AA) ( P = .048) shows association with human epidermal growth factor receptor 2 (HER2) status. Conclusions: The SNP rs584298 in DEAR1 showed associations with breast cancer and the expression of HER2 receptor; when this receptor is amplified, the result is aggressive tumoral subtype and expression of PR receptor that is associated with high-proliferative tumor grade. Validation of this SNP is important to establish whether this variant or the tagged variant is the cause for the risk association showed.

Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status

2017 ◽  
Vol 27 (6) ◽  
pp. 533-542 ◽  
Author(s):  
João Paulo Limongi França Guilherme ◽  
Antonio Herbert Lancha
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Endurance Athletes ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Minor Alleles ◽  
Representative Cohort

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

scholarly journals Single Nucleotide Polymorphisms Associated with Methotrexate-induced Nausea in Juvenile Idiopathic Arthritis

2021 ◽  
Author(s):  
Nini Kyvsgaard ◽  
Torben Stamm Mikkelsen ◽  
Thomas D. Als ◽  
Anne Estmann Christensen ◽  
Thomas J. Corydon ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Single Nucleotide Polymorphisms ◽  
Snp Analysis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Minor Alleles ◽  
Genes Encoding ◽  
Metabolizing Enzyme ◽  
The Impact

Abstract BackgroundContext: Methotrexate (MTX) is a cornerstone in the treatment of juvenile idiopathic arthritis (JIA). MTX treatment is commonly associated with nausea. Large inter-individual variation exists in the level of MTX-induced nausea, possibly due to genetic factors. Purpose: To investigate whether MTX-induced nausea was associated with single nucleotide polymorphisms (SNPs) in genes encoding MTX-transporter proteins, a MTX metabolizing enzyme and a nausea receptor.FindingsMethods: Children aged ≥9 years treated with MTX for JIA were eligible. MTX-induced nausea was registered by the children’s completion of a nausea diary (min. 7 days) and the parents’ completion of the MTX intolerance severity score (MISS). The selected SNPs were: SLCO1B1 (rs4149056; rs4149081), SLCO1B3 (rs2117032), SLC19A1 (rs1051266), ABCC2 (rs2273697; rs3740066; rs717620), ABCB1 (rs2032582; rs1045642), MTHFR (rs1801131, rs1801133), HTR3A (rs1062613; rs1985242; rs1176713) and HTR3B (rs1176744). Results: Enrolled were 121 JIA patients (82 girls: 39 boys) with a median age of 13.3 years (IQR: 11.3-15.1). The median MTX dose was 9.7 mg/m2/week (IQR: 9.0-10.9). The median MTX treatment duration prior to enrolment was 340 days (IQR: 142-766). The SNP analysis was available for 119 patients. MTX intolerance was associated with the genotype distribution of rs1801133 (MTHFR) (p= 0.02). There was no additive effect of the minor alleles for any of the selected SNPs, nor any significant haplotype associations. Conclusion Summary: MTX-induced nausea may be influenced by genetic polymorphisms in a MTX metabolizing enzyme (rs1801133; MTHFR). Implications: Further analyses involving inclusion of larger cohorts are needed to understand the impact of SNPs on MTX-induced nausea in JIA.

Sign in / Sign up

Export Citation Format

Share Document