Identification of single nucleotide variations in the Toll-like receptor 9 (TLR9) gene and its association to mastitis susceptibility in dairy cattle

Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccoud’s arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position −1237 with psychosis and anemia (p < 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p < 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.

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Association study of Single Nucleotide Polymorphisms (SNP) in Toll-likeReceptor 9 gene with bovine tuberculosis

Indian Journal of Animal Research ◽

10.18805/ijar.v0iof.7257 ◽

2017 ◽

Author(s):

Anuj Chauhan ◽

Ashish Bhaladhare ◽

Deepak Sharma ◽

Amit Kumar ◽

Arvind Sonwane ◽

...

Keyword(s):

Immune Response ◽

Bovine Tuberculosis ◽

Genetic Basis ◽

Adaptive Immune Response ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Single Nucleotide ◽

Adaptive Immune ◽

Tlr9 Gene ◽

Subsequent Activation

Toll-like Receptor 9 (TLR9) play an important role in recognition of components of intracellular pathogens like Mycobacterium bovis and subsequent activation of both innate and adaptive immune response and is potential strong candidates for investigating genetic basis of disease resistance. Present investigation was aimed at exploring the association of four SNPs in TLR9 gene with susceptibility/resistance against bovine tuberculosis infection in cattle. Three of SNPs under investigation (rs210982793, rs207807011, rs209190268) revealed polymorphism whereas monomorphism was observed in SNP rs55617140. SNP loci rs210982793 and rs207807011 were significantly (P less than 0.01) associated with susceptibility to bovine tuberculosis in the case control population. Both these SNPs loci were non-synonymous, thus suggestive of their functional role in the immune response against bovine tuberculosis.

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Association study of a single nucleotide polymorphism in the exon 2 region of toll-like receptor 9 (TLR9) gene with susceptibility to systemic lupus erythematosus among Chinese

Molecular Biology Reports ◽

10.1007/s11033-008-9440-z ◽

2009 ◽

Vol 36 (8) ◽

pp. 2245-2248 ◽

Cited By ~ 33

Author(s):

Chang-Juan Xu ◽

Wen-Hui Zhang ◽

Hai-Feng Pan ◽

Xiang-Pei Li ◽

Jian-Hua Xu ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Single Nucleotide Polymorphism ◽

Association Study ◽

Lupus Erythematosus ◽

Toll Like Receptor ◽

Nucleotide Polymorphism ◽

Systemic Lupus ◽

Single Nucleotide ◽

Exon 2 ◽

Tlr9 Gene

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Lactoferrin gene variants, their expression in the udder and mastitis susceptibility in dairy cattle

Animal Production Science ◽

10.1071/an13389 ◽

2015 ◽

Vol 55 (8) ◽

pp. 999 ◽

Cited By ~ 5

Author(s):

Adrianna Pawlik ◽

Grażyna Sender ◽

Magdalena Sobczyńska ◽

Agnieszka Korwin-Kossakowska ◽

Henryka Lassa ◽

...

Keyword(s):

Dairy Cattle ◽

Somatic Cell ◽

Cell Count ◽

Somatic Cell Count ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Holstein Friesian ◽

Lactoferrin Gene ◽

Estimated Breeding Values ◽

Mastitis Susceptibility

Lactoferrin gene (LF) is regarded as one of the potential markers of mastitis susceptibility/resistance in dairy cattle. The study’s aim was therefore, to investigate the feasibility of two single nucleotide polymorphisms (SNP), placed in the 5′-flanking region and 3′-untranslated region of the LF gene, to serve as mastitis markers. The associations between these SNP and the expression of LF, both on mRNA and protein level, were estimated in the milk of Polish Holstein-Friesian cows. The relationships between polymorphisms and cows’ estimated breeding values (EBV) for somatic cell count were also calculated. It was shown that both polymorphisms have a significant impact on lactoferrin content in milk, and that LF+32 SNP is associated with the cow’s EBV for somatic cell count. No association between SNP chosen for the study and lactoferrin mRNA abundance in milk somatic cells was observed. We propose LF+32 SNP for a molecular marker of mastitis resistance in dairy cows.

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Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

Allergy and Asthma Proceedings ◽

10.2500/aap.2019.40.190007 ◽

2020 ◽

Vol 41 (2) ◽

pp. 134-140

Author(s):

Yuriy Bisyuk ◽

Andrew Dubovyi ◽

Ilona DuBuske ◽

Viktor Litus ◽

Lawrence M. DuBuske

Keyword(s):

Late Onset ◽

Adult Population ◽

Additive Models ◽

Atopic Asthma ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Toll Like Receptor 4 ◽

Single Nucleotide ◽

Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

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Strategies for single nucleotide polymorphism (SNP) genotyping to enhance genotype imputation in Gyr (Bos indicus) dairy cattle: Comparison of commercially available SNP chips

Journal of Dairy Science ◽

10.3168/jds.2014-9213 ◽

2015 ◽

Vol 98 (7) ◽

pp. 4969-4989 ◽

Cited By ~ 20

Author(s):

S.A. Boison ◽

D.J.A. Santos ◽

A.H.T. Utsunomiya ◽

R. Carvalheiro ◽

H.H.R. Neves ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Dairy Cattle ◽

Bos Indicus ◽

Snp Genotyping ◽

Genotype Imputation ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Polymorphisms of the toll-like receptor 9 (TLR9) gene with systemic lupus erythematosus in Chinese

Rheumatology ◽

10.1093/rheumatology/kei120 ◽

2005 ◽

Vol 44 (11) ◽

pp. 1456-1457 ◽

Cited By ~ 36

Author(s):

M. W. Ng ◽

C. S. Lau ◽

T. M. Chan ◽

W. H. S. Wong ◽

Y. L. Lau

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Toll Like Receptor ◽

Systemic Lupus ◽

Tlr9 Gene

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Cytosine and adenine deaminase base-editors induce broad and nonspecific changes in gene expression and splicing

Communications Biology ◽

10.1038/s42003-021-02406-5 ◽

2021 ◽

Vol 4 (1) ◽

Author(s):

Jiao Fan ◽

Yige Ding ◽

Chao Ren ◽

Ziguo Song ◽

Jie Yuan ◽

...

Keyword(s):

Gene Expression ◽

Double Strand Breaks ◽

Great Promise ◽

Single Nucleotide ◽

Strand Breaks ◽

Dna Base ◽

Target Dna ◽

Single Nucleotide Variations ◽

Adenine Deaminase ◽

Target Rna

AbstractCytosine or adenine base editors (CBEs or ABEs) hold great promise in therapeutic applications because they enable the precise conversion of targeted base changes without generating of double-strand breaks. However, both CBEs and ABEs induce substantial off-target DNA editing, and extensive off-target RNA single nucleotide variations in transfected cells. Therefore, the potential effects of deaminases induced by DNA base editors are of great importance for their clinical applicability. Here, the transcriptome-wide deaminase effects on gene expression and splicing is examined. Differentially expressed genes (DEGs) and differential alternative splicing (DAS) events, induced by base editors, are identified. Both CBEs and ABEs generated thousands of DEGs and hundreds of DAS events. For engineered CBEs or ABEs, base editor-induced variants had little effect on the elimination of DEGs and DAS events. Interestingly, more DEGs and DAS events are observed as a result of over expressions of cytosine and adenine deaminases. This study reveals a previously overlooked aspect of deaminase effects in transcriptome-wide gene expression and splicing, and underscores the need to fully characterize such effects of deaminase enzymes in base editor platforms.

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