Dataset Information

Association between RAGE variants and the susceptibility to atherosclerotic lesions in Chinese Han population.

ABSTRACT: Receptor for advanced glycation end products (RAGE) is a major proinflammatory receptor and its role in atherosclerosis has only been emphasized recently. Increasing evidence has demonstrated an association between RAGE and the susceptibility to atherosclerosis development. Therefore, the role of RAGE in atherogenesis and the possible impact of genetic variations in RAGE on the atherosclerotic process in subjects with coronary artery disease (CAD) was investigated in the present study. The RAGE expression in carotid specimens was analyzed by immunohistochemistry and sequence variations of the RAGE gene selected from the Hapmap database were also screened. The plasma levels of S100 calcium binding protein B (S100B) were determined by ELISA. Immunohistochemical staining of tissue samples demonstrated an increased RAGE expression in atherosclerotic carotid plaques compared with that in normal arteries. Furthermore, compared with the corresponding wild-type genotype, the rs2269422 single-nucleotide polymorphism of RAGE was associated with the susceptibility of patients with CAD to atherosclerosis. Furthermore, reverse transcription polymerase chain reaction and western blot analyses indicated increased coronary artery RAGE mRNA levels and protein expression, respectively, in CAD patients vs. control subjects. Furthermore, the plasma levels of S100B in CAD patients that were carriers of the AA/AT genotype of the rs2269422 variant of RAGE was increased compared with that in TT genotype carriers; as this was also identified in control subjects, it may not be CAD-specific. The RAGE rs2269422 variant is therefore significantly associated with an increased occurrence of CAD in the present Han Chinese population. Thus, RAGE variants significantly impact the risk of CAD in Han Chinese subjects.

SUBMITTER: Zhang X

PROVIDER: S-EPMC6364181 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Association between RAGE variants and the susceptibility to atherosclerotic lesions in Chinese Han population.

Zhang Xiaolin X Cheng Minghui M Tong Fangnian F Su Xue X

Experimental and therapeutic medicine 20190109 3

Receptor for advanced glycation end products (RAGE) is a major proinflammatory receptor and its role in atherosclerosis has only been emphasized recently. Increasing evidence has demonstrated an association between RAGE and the susceptibility to atherosclerosis development. Therefore, the role of RAGE in atherogenesis and the possible impact of genetic variations in RAGE on the atherosclerotic process in subjects with coronary artery disease (CAD) was investigated in the present study. The RAGE ...[more]

PMID: 30783474

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Project description:BackgroundPrevious studies have shown that individuals with schizophrenia have a greater risk for psoriasis than a typical person. This suggests that there might be a shared genetic etiology between the 2 conditions. We aimed to characterize the potential shared genetic susceptibility between schizophrenia and psoriasis using genome-wide marker genotype data.MethodsWe obtained genetic data on individuals with psoriasis, schizophrenia and control individuals. We applied a marker-based coheritability estimation procedure, polygenic score analysis, a gene set enrichment test and a least absolute shrinkage and selection operator regression model to estimate the potential shared genetic etiology between the 2 diseases. We validated the results in independent schizophrenia and psoriasis cohorts from Singapore.ResultsWe included 1139 individuals with psoriasis, 744 with schizophrenia and 1678 controls in our analysis, and we validated the results in independent cohorts, including 441 individuals with psoriasis (and 2420 controls) and 1630 with schizophrenia (and 1860 controls). We estimated that a large fraction of schizophrenia and psoriasis risk could be attributed to common variants (h2SNP = 29% ± 5.0%, p = 2.00 × 10-8), with a coheritability estimate between the traits of 21%. We identified 5 variants within the human leukocyte antigen (HLA) gene region, which were most likely to be associated with both diseases and collectively conferred a significant risk effect (odds ratio of highest risk quartile = 6.03, p < 2.00 × 10-16). We discovered that variants contributing most to the shared heritable component between psoriasis and schizophrenia were enriched in antigen processing and cell endoplasmic reticulum.LimitationsOur sample size was relatively small. The findings of 5 HLA gene variants were complicated by the complex structure in the HLA region.ConclusionWe found evidence for a shared genetic etiology between schizophrenia and psoriasis. The mechanism for this shared genetic basis likely involves immune and calcium signalling pathways.

Project description:Tuberculosis (TB) is an important public health problem. Studies indicated that TAP plays a key role in the presentation and transport of antigenic peptides during anti-M.tb infection. Given the important biological role of the TAP gene involved in anti-M.tb infection, a family-based case-control study including 133 tuberculosis patients, 107 healthy household contacts, and 173 healthy controls was conducted to assess the association between TAP gene polymorphisms and TB susceptibility. The basic information of subjects and their blood samples were collected. Four SNPs including rs1135216, rs1057141, rs241447, and rs3819721 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our results suggested that BMI, residence, bedroom crowding, indoor humidity, fitness activities, history of smoking, and TB exposure history were associated with the occurrence of tuberculosis (P < 0.05). A significant association was observed between the TAP1 rs1135216 CT/CC genotype and increased TB risk, and the ORs were 2.56 (95% CI 1.31-4.99) and 6.73 (95% CI 1.33-34.02), respectively. TAP2 rs3819721 GG genotype carriers also showed an increased risk of TB when compared TB patients to healthy household contacts. Haplotype analysis revealed that the haplotype CT at rs1057141 and rs1135216 (OR = 11.34, 95% CI 1.49-86.56; OR = 7.45, 95% CI 1.43-38.76), as well as TA at rs241447 and rs3819721 (OR = 2.20, 95% CI 1.07-4.56) had a significantly increased risk of TB. The genetic risk scores (GRS) analysis of the four loci indicated that the risk of tuberculosis increased with increasing GRS scores in TB vs HHC (Ptrend = 0.010) and in TB vs HC (Ptrend = 0.001). In conclusion, our findings suggested that the SNPs of rs1135216 and rs3819721 were associated with TB susceptibility among the tuberculosis-prone families in the Chinese Han population and the risk of developing tuberculosis increases with the number of risk alleles, which could help identify high-risk groups in time and take scientific preventive measures. Further cohort studies with large samples are needed to validate the role of TAP gene variants on TB susceptibility.

Dataset Information

Association between RAGE variants and the susceptibility to atherosclerotic lesions in Chinese Han population.

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Association between RAGE variants and the susceptibility to atherosclerotic lesions in Chinese Han population.

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