Polymorphic sites in the 5´-region of the porcine &amp;lt;i&amp;gt;C8A&amp;lt;/i&amp;gt; gene

Background Helicobacter pylori (H. pylori) infects nearly half of the world’s population with a variation in incidence among different geographic regions. Genetic variants in the promoter regions of the IL1B gene can affect cytokine expression and creates a condition of hypoacidity which favors the survival and colonization of H. pylori. Therefore, the aim of this study was to characterize the polymorphic sites in the 5′- region [−687_ + 297] of IL1B in H. pylori infection using in silico tools. Results A total of five nucleotide variations were detected in the 5′-regulatory region [−687_ + 297] of IL1B which led to the addition or alteration of transcription factor binding sites (TFBSs) or composite regulatory elements (CEs). Genotyping of IL1B − 31 C > T revealed a significant association between -31 T and susceptibility to H. pylori infection in the studied population (P = 0.0363). Comparative analysis showed conservation rates of IL1B upstream [−368_ + 10] region above 70% in chimpanzee, rhesus monkey, a domesticated dog, cow and rat. Conclusions In H. pylori-infected patients, three detected SNPs (− 338, − 155 and − 31) located in the IL1B promoter were predicted to alter TFBSs and CE, which might affect the gene expression. These in silico predictions provide insight for further experimental in vitro and in vivo studies of the regulation of IL1B expression and its relationship to H. pylori infection. However, the recognition of regulatory motifs by computer algorithms is fundamental for understanding gene expression patterns.

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First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population: computational approach

Idris

Idris²,

Ataelmanan

et al. 2021

BMC Microbiol

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Detection of a polymorphic site of the porcine <i>C8G</i> gene and evaluation of association with haemolytic complement activity

Ponsuksili

Muráni

et al. 2012

Arch. Anim. Breed.

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C8 is a component of the membrane attack complex (MAC) of the complement system, which causes lysis of the target cells. C8 consists of three subunits C8A, C8B, and C8G. This study focus on the porcine C8G gene aiming to identify its cDNA sequence, to detect single nucleotide polymorphism (SNP), and to analyse its association with haemolytic complement activity in the classical (CH50) and the alternative (AH50) pathway. The C8G is 840 bp in length encoding 202 amino acids. The C8G is similar (≥65 %) among mammalian species (pig, human, cattle, dog, and mouse) at both the cDNA and the protein level. One SNP was detected at nucleotide 423C→T (SNP c.423C>T; codon 124GAC→GAT). The SNP does not segregate among the European commercial breeds German Landrace and Pietrain but in the Vietnamese autochthonous breed Muong Khuong (Vietnamese potbelly pig) and an experimental F 2 crossbreed population based on Duroc and Berlin Miniature Pig (DUMI). Haemolytic complement activity of animals of the DUMI populations obtained at about 6, 14 and 16 weeks of age before and after vaccinations showed short-termed increments due to the immune stimulation and long-term increase due to aging. Family based association tests indicate effects of C8G on AH50 and CH50 at 16 weeks of age immediately before PRRS vaccination (AH50_PRRS0, P=0.087; CH50_PRRS0, P=0.027). However, the results did not indicate a consistent effect of the respective alleles on haemolytic complement activity in the alternative and the classical pathway. The study provides weak evidence for the candidacy of the porcine C8G for innate immune response and disease resistance in pigs.

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Polymorphic sites in the 5´-region of the porcine <i>C8A</i> gene

Cited by 2 publications

References 31 publications

First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population: computational approach

First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population: computational approach

Detection of a polymorphic site of the porcine <i>C8G</i> gene and evaluation of association with haemolytic complement activity

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Polymorphic sites in the 5´-region of the porcine &lt;i&gt;C8A&lt;/i&gt; gene

Cited by 2 publications

References 31 publications

First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population: computational approach

First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population: computational approach

Detection of a polymorphic site of the porcine &lt;i&gt;C8G&lt;/i&gt; gene and evaluation of association with haemolytic complement activity

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Polymorphic sites in the 5´-region of the porcine <i>C8A</i> gene

Detection of a polymorphic site of the porcine <i>C8G</i> gene and evaluation of association with haemolytic complement activity