Genetic Markers in a Medieval Case of Ankylosing Spondylitis

The aim of this study was to explore the genetic association of Mediterranean fever (MEFV) gene polymorphisms rs3743930 and rs11466023 with ankylosing spondylitis (AS) susceptibility in a cohort of Chinese Han population.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping MEFV polymorphisms in 131 AS patients and 127 healthy controls. Chi-square test was employed to compare the genotype and allele distributions between the case and control groups. Odds ratio (OR) with 95% confidence interval (CI) was calculated to assess the association between MEFV gene polymorphisms and AS incidence.The frequency of the G allele of MEFV polymorphism rs3743930 in the AS group was significantly higher than that in the healthy control group (36.64% vs 28.35%, P < .05). And individuals carrying the GG genotype showed 2.896 folds higher risk of developing AS when compared with CC genotype carriers (OR = 2.896, 95% CI = 1.115–7.519). But no significant differences were detected in either genotype or allele distributions between case and control groups for the polymorphism rs11466023 (P > .05).MEFV gene polymorphism rs3743930 might be significantly associated with AS susceptibility in Chinese Han population, and its G allele might predict high risk of AS.

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“…As reported in previous literature, a number of genes have been identified to be related to AS risk. [20,21]…”

Section: Discussionmentioning

confidence: 99%

Association between MEFV polymorphisms and the susceptibility to ankylosing spondylitis in a Chinese Han population

Song¹,

Zhao²,

Jiao

et al. 2018

Medicine

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“…45,46 and Laza et al . 47 . Mitochondrial DNA D-loop hypervariable segment I was sequenced from the aDNA extracts by amplifying six overlapping fragments, each with an approximate length of 100 bp, which finally provided the sequencing between nucleotides 15,995 and 16,399 48 .…”

Section: Methodsmentioning

confidence: 99%

Environmental factors modulated ancient mitochondrial DNA variability and the prevalence of rheumatic diseases in the Basque Country

Laza¹,

Hervella²,

Zubieta³

et al. 2019

Sci Rep

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Among the factors that would explain the distribution of mitochondrial lineages in Europe, climate and diseases may have played an important role. A possible explanation lies in the nature of the mitochondrion, in which the energy generation process produces reactive oxygen species that may influence the development of different diseases. The present study is focused on the medieval necropolis of San Miguel de Ereñozar (13th–16th centuries, Basque Country), whose inhabitants presented a high prevalence of rheumatic diseases and lived during the Little Ice Age (LIA). Our results indicate a close relationship between rheumatic diseases and mitochondrial haplogroup H, and specifically between spondyloarthropathies and sub-haplogroup H2. One possible explanation may be the climate change that took place in the LIA that favoured those haplogroups that were more energy-efficient, such as haplogroup H, to endure lower temperatures and food shortage. However, it had a biological trade-off: the increased risk of developing rheumatic diseases.

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“…The sensitivity and specificity of this SNP is >98% for the typing of HLA-B27 [49]. The rest of the alleles of the HLA-B gene were analysed through sequencing, following the methodology proposed by Laza et al, 2016 [56].…”

Section: Genotypingmentioning

confidence: 99%

Is Ankylosing Spondylitis a single disease? A clinical and genetic perspective

Laza

Hervella

Madrigal

et al. 2020

Preprint

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Background:The aim of the present study was to evaluate whether ankylosing spondylitis (AS) and non-radiographic axial spondyloartritis (nr-axSpA) are subsets of a single disease from a genetic perspective. Methods:We analyzed from a clinical and genetic perspective 62 patients from the University Hospital of Basurto (Bilbao, Spain) diagnosed with axial spondyloarthritis. Forty three SNPs previously associated with spondyloarthritis (SpA) were selected. The DNA samples were genotyped through SNP Type Assay, using the BioMark HD platform of Fluidigm. Results:Regarding clinical characteristic we found statistically significant differences between the patients with AS and nr-axSpA in the age at diagnosis, the disease duration, the presence of syndesmophytes and the BASMI index. In relation to genetic markers, we only found statistically significant differences in HLA-B27 allele frequency between the two groups. Regarding the frequencies of the SNPs, no statistically significant differences were found between the two groups. Despite the high genetic heterogeneity observed among the patients, it is worth highlighting that some of the most important risk SNPs associated with AS, located in genes (ERAP1, ERAP2, IL-23R, GPR25) and intergenic region (2p15), appeared at high frequencies in all the patients.Conclusion:We have observed that AS and nr-axSpA have a common genetic background associated with the pathogenic development of these diseases; therefore, we suggest that the two entities constitute two different expressions of the same disease. Among the genetic factors, the present study shows the importance of genes involved in the pathogenesis of AS, such as HLA-B27, ERAP1, ERAP2, IL-23R, GPR25 and intergenic region 2p15, whose role may influence the onset, development and severity of the disease. However, the pathogenesis of SpA is very complex, indicating the involvement of environmental factors (smoking and obesity), in the triggering of the disease, so that patients with different genotypes would have the same pathogenic phenotype.

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Genetic Markers in a Medieval Case of Ankylosing Spondylitis

Cited by 11 publications

References 10 publications

Association between MEFV polymorphisms and the susceptibility to ankylosing spondylitis in a Chinese Han population

Association between MEFV polymorphisms and the susceptibility to ankylosing spondylitis in a Chinese Han population

Environmental factors modulated ancient mitochondrial DNA variability and the prevalence of rheumatic diseases in the Basque Country

Is Ankylosing Spondylitis a single disease? A clinical and genetic perspective

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