scholarly journals Genetic Association Analysis of Paratuberculosis Forms in Holstein-Friesian Cattle

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Patricia Vázquez ◽  
Otsanda Ruiz-Larrañaga ◽  
Joseba M. Garrido ◽  
Mikel Iriondo ◽  
Carmen Manzano ◽  
...  
Keyword(s):  
Multiple Testing ◽  
Additive Model ◽  
Nuclear Body ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Body Protein ◽  
Holstein Friesian ◽  
Solute Carrier ◽  
Friesian Cattle ◽  
Oligomerization Domain

A genetic susceptibility toMycobacterium aviumsubsp.paratuberculosis(MAP) infections in ruminants has been longtime suspected to exist. Recently, natural infections in cattle have been reclassified intolatentandpatentforms based on histopathological findings and their associations with immunological and microbiological variables. This study aims to explore whether these newly defined phenotypes are associated with twenty-four single-nucleotide polymorphisms (SNPs) in six bovine candidate genes:nucleotide-binding oligomerization domain 2 (NOD2), solute carrier family 11 member A1 (SLC11A1), nuclear body protein SP110 (SP110), toll-like receptors (TLRs) 2and4, andCD209(also known asDC-SIGN, dendritic cell-specific ICAM3-grabbing nonintegrin). SNPs were genotyped for 772 Holstein-Friesian animals (52.6%apparently free; 38.1%latent; 9.3%patent) by TaqMan OpenArray technology. Genotypic-phenotypic associations were assessed by logistic regression analysis adjusted for age at slaughter, under five models (codominant, dominant, recessive, overdominant, and log-additive), and corrected for multiple testing. The rs208222804 C allele (CD209gene) was found to be associated withlatentparatuberculosis (log-additive model:P<0.0034after permutation procedure; OR = 0.64, 95% CI = 0.48–0.86). No significant association was detected between any SNP and thepatentphenotype. Consequently,CD209gene may play a key role in the pathogenesis of bovine paratuberculosis.

scholarly journals Associations of Two Obesity-Related Single-Nucleotide Polymorphisms with Adiponectin in Chinese Children

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Lijun Wu ◽  
Liwang Gao ◽  
Xiaoyuan Zhao ◽  
Meixian Zhang ◽  
Jianxin Wu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Multiple Testing ◽  
Association Studies ◽  
Statistical Significance ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Children ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Purpose. Genome-wide association studies have found two obesity-related single-nucleotide polymorphisms (SNPs), rs17782313 near the melanocortin-4 receptor (MC4R) gene and rs6265 near the brain-derived neurotrophic factor (BDNF) gene, but the associations of both SNPs with other obesity-related traits are not fully described, especially in children. The aim of the present study is to investigate the associations between the SNPs and adiponectin that has a regulatory role in glucose and lipid metabolism. Methods. We examined the associations of the SNPs with adiponectin in Beijing Child and Adolescent Metabolic Syndrome (BCAMS) study. A total of 3503 children participated in the study. Results. The SNP rs6265 was significantly associated with adiponectin under an additive model (P=0.02 and 0.024, resp.) after adjustment for age, gender, and BMI or obesity statuses. The SNP rs17782313 was significantly associated with low adiponectin under a recessive model. No statistical significance was found between the two SNPs and low adiponectin after correction for multiple testing. Conclusion. We demonstrate for the first time that the SNP rs17782313 near MC4R and the SNP rs6265 near BDNF are associated with adiponectin in Chinese children. These novel findings provide important evidence that adiponectin possibly mediates MC4R and BDNF involved in obesity.

scholarly journals Impact of SNPs in ACACA, SCD1, and DGAT1 Genes on Fatty Acid Profile in Bovine Milk with Regard to Lactation Phases

Animals ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 997
Author(s):  
Marzena M. Kęsek-Woźniak ◽  
Edyta Wojtas ◽  
Anna E. Zielak-Steciwko
Keyword(s):  
Milk Fat ◽  
Bovine Milk ◽  
Milk Composition ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Holstein Friesian ◽  
Dgat1 Gene ◽  
Health Promoting ◽  
Lactation Phase ◽  
Friesian Cattle

Milk fat is a dietary source of fatty acids (FA), which can be health promoting or can increase risks of some diseases. FA profile composition depends on many factors, among them gene polymorphism. This study analyzed the relation between polymorphism of acetyl-CoA carboxylase α (ACACA), stearoyl-CoA desaturase 1 (SCD1), diacylglycerol acyltransferase 1 (DGAT1) genes with FA profile in milk from Polish Holstein-Friesian cattle and determined changes of FA percentage during lactation with regard to polymorphism. Milk samples were collected twice: during the first phase of lactation (<90 Days in milk; DIM) and at the end of lactation (>210 DIM). During the first milk collection, blood samples were taken to analyze three chosen single nucleotide polymorphisms (SNPs): AJ312201.1g.1488C > G SNP in ACACA gene, A293V SNP in SCD1 gene, and K232A SNP in DGAT1 gene. Increased concentration of FA that are less beneficial for human health and have lower concentration of healthy FA in homozygotes: GG in ACACA, VV in SCD1, and KK in DGAT1 were observed, as well as a strong influence of the analyzed genes on FA with 18C atoms was also found. Moreover, it was demonstrated that lactation phase significantly affected FA percentage in milk depending on the phenotype. These results may contribute their part to knowledge toward obtaining more beneficial milk composition.

scholarly journals Association of novel polymorphisms in the bovine myocyte enhancer factor 2D (MEF2D) gene with carcass traits of Polish Holstein-Friesian cattle

2013 ◽  
Vol 58 (No. 6) ◽  
pp. 262-269 ◽  
Author(s):  
E. Juszczuk-Kubiak ◽  
K. Wicińska ◽  
J. Oprządek
Keyword(s):  
Carcass Traits ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Myocyte Enhancer Factor ◽  
Holstein Friesian ◽  
Pcr Rflp ◽  
Combined Genotypes ◽  
Strong Candidate ◽  
Friesian Cattle ◽  
Enhancer Factor

In the present study the polymorphism of the myocyte enhancer factor 2D (MEF2D) gene was analyzed as a genetic marker candidate for carcass traits in Polish Holstein-Friesian cattle. Four novel single nucleotide polymorphisms (SNPs): HQ692911:g.93C&gt;T in exon 8, JX088659:g.69C&gt;T in intron 8, JX0692914:g.47C&gt;T in intron 9 as well as JX088658:g.100G&gt;A in the 3&rsquo;flanking region were identified by DNA sequencing. By applying the PCR-RFLP method, the SNPs (g.93C&gt;T/HaeIII and g.47C&gt;T/Tsp45I) were genotyped in 401 Polish Holstein-Friesian bulls and their association with carcass traits was analyzed. Statistical analysis showed that the g.93C&gt;T SNP was significantly associated with weight of lean (WLVC) and fat in valuable cuts (WFVC). Animals with the TT genotype had significantly higher WLVC (P &lt; 0.05) and lower WFVC (P &lt; 0.05) than those with the CC and CT genotypes. No significant relationship with carcass traits was found for the g.47C&gt;T SNP (P &gt; 0.05) in intron 9. Moreover, we found a significant effect of the combined genotypes onWFVC (P &lt; 0.01), percent of lean (PLVC) (P &lt; 0.05), and fat (PFVC) in valuable cuts (P &lt; 0.01). This suggested that MEF2D is a strong candidate gene that affects carcass traits in cattle.&nbsp;

scholarly journals NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

2010 ◽  
Vol 70 (4) ◽  
pp. 668-674 ◽  
Author(s):  
P Dieudé ◽  
M Guedj ◽  
J Wipff ◽  
B Ruiz ◽  
G Riemekasten ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Systemic Sclerosis ◽  
Potential Role ◽  
Additive Model ◽  
Nucleotide Polymorphisms ◽  
Fibrosing Alveolitis ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Caucasian Origin

BackgroundRecent evidence has highlighted a potential role of interleukin 1β (IL-1β) in systemic sclerosis (SSc). NLRP1 provides a scaffold for the assembly of the inflammasome that promotes the processing and maturation of pro-IL-1β. In addition, NLRP1 variants were found to confer susceptibility to autoimmune disorders.ObjectiveTo study a possible association of the NLRP1 rs6502867, rs2670660 and rs8182352, rs12150220 and rs4790797 with SSc in the European Caucasian population.MethodsNLRP1 single nucleotide polymorphisms were genotyped in 3227 individuals comprising a discovery set (870 SSc patients and 962 controls) and a replication set including individuals from Germany (532 SSc patients and 324 controls) and Italy (527 SSc patients and 301 controls), all individuals being of European Caucasian origin.ResultsConditional analyses revealed a significant association for the NLRP1 rs8182352 variant with both anti-topoisomerase-positive and SSc-related fibrosing alveolitis (FA) subsets under an additive model: p=0.0042, OR 1.23 (95% CI 1.07 to 1.41) and p=0.0065 OR 1.19 (95% CI 1.05 to 1.36), respectively. Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.ConclusionsOur results establish NLRP1 as a new genetic susceptibility factor for SSc-related pulmonary fibrosis and anti-topoisomerase-positive SSc phenotypes. This provides new insights into the pathogenesis of SSc, underlining the potential role of innate immunity in particular in the FA-positive SSc subphenotype, which represents a severe subset of the disease.

scholarly journals Associations between neurochemical receptor genes, 2D:4D, impulsivity and relationship quality

2018 ◽  
Vol 14 (12) ◽  
pp. 20180642 ◽  
Author(s):  
Eiluned Pearce ◽  
Rafael Wlodarski ◽  
Anna Machin ◽  
Robin I. M. Dunbar
Keyword(s):  
Relationship Quality ◽  
Multiple Testing ◽  
Romantic Relationship ◽  
Preliminary Evidence ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Digit Ratios ◽  
The Relationship ◽  
Romantic Relationship Quality

The ratio between the second and fourth digits (2D:4D) has been widely used as a proxy for fetal exposure to androgens and has been linked to a number of sociosexual traits in humans. However, the role of genes in this equation remains unknown. Here ( N = 474), we test, firstly, for associations between 2D:4D and single-nucleotide polymorphisms (SNPs) in nine neurochemical receptor genes ( AR, OXTR, AVPR1A, OPRM1, DRD1/2, ANKK1, 5HTR1A/2A ), and secondly, whether digit ratios mediate the relationship between genetic variation and sociosexuality. We demonstrate significant associations between AR , OPRM1 and AVPR1A and 2D:4D. Moreover, mediation analysis indicates that, in women, AR and OPRM1 variation drives digit ratios, which are related positively to impulsivity and, for OPRM1 , negatively to romantic relationship quality. Although these findings are subject to multiple testing issues, this study provides preliminary evidence that in women genetic factors may affect both impulsivity and perceived relationship quality through influencing factors indexed by digit ratios.

scholarly journals Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer

Genes ◽  
2018 ◽  
Vol 10 (1) ◽  
pp. 20 ◽  
Author(s):  
Patricio Gonzalez-Hormazabal ◽  
Maher Musleh ◽  
Marco Bustamante ◽  
Juan Stambuk ◽  
Raul Pisano ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Additive Model ◽  
P Value ◽  
Erk Pathway ◽  
Nucleotide Polymorphisms ◽  
Functional Effect ◽  
Cellular Functions ◽  
Single Nucleotide ◽  
Gastric Cancer Patients ◽  
Control Study

The RAS/RAF/MEK/ERK pathway regulates certain cellular functions, including cell proliferation, differentiation, survival, and apoptosis. Dysregulation of this pathway leads to the occurrence and progression of cancers mainly by somatic mutations. This study aimed to assess if polymorphisms of the RAS/RAF/MEK/ERK pathway are associated with gastric cancer. A case-control study of 242 gastric cancer patients and 242 controls was performed to assess the association of 27 single nucleotide polymorphisms (SNPs) in the RAS/RAF/MEK/ERK pathway genes with gastric cancer. Analyses performed under the additive model (allele) showed four significantly associated SNPs: RAF1 rs3729931 (Odds ratio (OR) = 1.54, 95%, confidence interval (CI): 1.20–1.98, p-value = 7.95 × 10−4), HRAS rs45604736 (OR = 1.60, 95% CI: 1.16–2.22, p-value = 4.68 × 10−3), MAPK1 rs2283792 (OR = 1.45, 95% CI: 1.12–1.87, p-value = 4.91 × 10−3), and MAPK1 rs9610417 (OR = 0.60, 95% CI: 0.42–0.87, p-value = 6.64 × 10−3). Functional annotation suggested that those variants or their proxy variants may have a functional effect. In conclusion, this study suggests that RAF1 rs3729931, HRAS rs45604736, MAPK1 rs2283792, and MAPK1 rs9610417 are associated with gastric cancer.

Sign in / Sign up

Export Citation Format

Share Document