المؤلفون: Fa-juan Cheng, Yue-miao Zhang, Ping Hou, Xu-jie Zhou, Hong Zhang, Ming-Hui Zhao, Yuan-yuan Qi

المصدر: Journal of Immunology Research
Journal of Immunology Research, Vol 2016 (2016)

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, 0301 basic medicine, Adult, Male, China, Article Subject, Immunology, Gene Expression, Quantitative trait locus, Polymorphism, Single Nucleotide, Pathogenesis, 03 medical and health sciences, Young Adult, Asian People, Polymorphism (computer science), MHC class I, Immunology and Allergy, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, Allele, Gene, Alleles, Genetic Association Studies, Genetics, biology, Gene Expression Profiling, Histocompatibility Antigens Class I, Case-control study, General Medicine, Gene expression profiling, 030104 developmental biology, Case-Control Studies, biology.protein, Female, lcsh:RC581-607, Databases, Nucleic Acid, Research Article

الوصف: Objectives. The variant rs3828903 withinMICB, a nonclassicalMHCclass I chain-related gene, was detected to contribute to systemic lupus erythematosus (SLE) in a Caucasian population. This study aimed to investigate the association in a northern Han Chinese population.Methods. We recruited 1077 SLE patients and 793 controls for analysis. rs3828903 was genotyped by TaqMan allele discrimination assay. Using the public databases, its functional annotations and gene differential expression analysis ofMICBwere evaluated.Results. Significant association between the allele G of rs3828903 and risk susceptibility to SLE was observed after adjusting for sex and age (P=1.87×10-2).In silicoanalyses predicted a higher affinity to transcription factors for allele G (risk) andcis-expression quantitative trait loci (cis-eQTL) effects of rs3828903 in multiple tissues (Pranging from2.79×10-6to6.27×10-38). Furthermore, higher mRNA expressions ofMICBwere observed in B cells, monocytes, and renal biopsies from SLE patients compared to controls.Conclusion. An association between rs3828903 and susceptibility to SLE has been detected in a Chinese population. This together with the functional annotations of rs3828903 convertsMICBinto a main candidate in the pathogenesis of SLE.

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2689570f265510afbf716fc147495b9Test

المؤلفون: Hong Zhang, Ming-Hui Zhao, Fa-juan Cheng, Ping Hou, Xu-jie Zhou, Yue-miao Zhang, Yuan-yuan Qi

المصدر: Journal of Immunology Research
Journal of Immunology Research, Vol 2015 (2015)

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Adult, Male, Article Subject, Genotype, Immunology, Lupus nephritis, Gene Expression, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Autophagy-Related Protein 5, Young Adult, Asian People, Gene Frequency, Polymorphism (computer science), Databases, Genetic, medicine, Immunology and Allergy, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, Genotyping, Allele frequency, Genetic Association Studies, Oligonucleotide Array Sequence Analysis, Genetics, Lupus erythematosus, General Medicine, medicine.disease, Lupus Nephritis, Expression quantitative trait loci, Female, lcsh:RC581-607, Microtubule-Associated Proteins, Research Article

الوصف: Objectives. Numerous loci were identified to perturb gene expression intrans. As elevatedATG5expression was observed in systemic lupus erythematosus (SLE), the study was conducted to analyze the genome-wide genetic regulatory mechanisms associated withATG5expression in a Chinese population with lupus nephritis (LN).Methods. The online expression quantitative trait loci database was searched fortrans-expression single nucleotide polymorphisms (trans-eSNPs) ofATG5. Taggingtrans-eSNPs were genotyped by a custom-made genotyping chip in 280 patients and 199 controls. For positive findings, clinical information and bioinformation analyses were performed.Results. Fourtrans-eSNPs were observed to be associated with susceptibility to LN (P< 0.05), including ANKRD50 rs17008504, AGA rs2271100, PAK7 rs6056923, and TET2 rs1391441, while seven othertrans-eSNPs showed marginal significant associations (0.05

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23fdff44a3b3109be6e217ba5b1ca7e2Test
https://pubmed.ncbi.nlm.nih.gov/26509176Test