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 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.

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.  

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