Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis

2019 ◽  
Author(s):  
Amal Bouzid ◽  
Adel Tekari ◽  
Fida Jbeli ◽  
Amine Chakroun ◽  
Kirtal Hansdah ◽  
...  
Keyword(s):  
Association Study ◽  
Late Onset ◽  
Meta Analysis ◽  
Tunisian Population ◽  
Nucleotide Polymorphisms ◽  
Chromosome 11 ◽  
North African ◽  
North African Population ◽  
Osteoprotegerin Gene ◽  
Control Association

Abstract Background Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss and alteration in the osteoprotegerin (OPG) expression was suggested in the implication of OTSC pathogenesis. A case-control association study of single nucleotide polymorphisms (SNP) in the OPG gene was performed in a Tunisian-North African population composed of 183 unrelated OTSC patients and 177 healthy subjects.Results Rs3102734 and rs2073618 were significantly associated with OTSC which were predominantly detected in females after multiple corrections. The haplotypes A-A-C-G (p = 0.0.001) and A-A-C-C (p = 0.0004) were significantly associated with OTSC suggesting a reduced risk in females. Multilocus association revealed that: rs2073618 in OPG, rs39335, rs39350 and rs39374 in RELN, rs494252 in chromosome 11 and rs1800472 in TGFβ1 showed significant OTSC-associated alleles in the Tunisian samples. In addition, meta-analysis for rs2073618 SNP in Tunisian, Indian and Italian populations revealed evidence of association of the rs2073618 polymorphism with OTSC (Odds ratios of 0.826 (95% CI [0.691–0.987], p = 0.0035)).Conclusions Our findings suggest that rs3102734 and rs2073618 variants are associated with OTSC in an additional North African ethnic Tunisian population. Meta-analysis for rs2073618 based on three ethnic population revealed evidence of association with OTSC.

Three polymorphisms in the IL-10 gene and the risk of HCV infection: a meta-analysis plus a Chinese Association Study involving 1140 subjects

2012 ◽  
Vol 141 (5) ◽  
pp. 893-904 ◽  
Author(s):  
J. LI ◽  
Y. LIU ◽  
F. XU ◽  
J. CHEN ◽  
Y. CHEN
Keyword(s):  
Association Study ◽  
Genetic Model ◽  
Meta Analysis ◽  
Interleukin 10 ◽  
Hcv Infection ◽  
Nucleotide Polymorphisms ◽  
Virus Persistence ◽  
Immunosuppressive Cytokine ◽  
Chinese Association ◽  
Control Association

SUMMARYThe influence of an immunosuppressive cytokine, interleukin-10 (IL-10), on the outcome of hepatitis C virus (HCV) infection has been increasingly reported recently. A number of polymorphisms appear to control the level of IL-10 production. Among them, −592C/A, −819C/T and −1082G/A in the IL-10 gene are three most studied single nucleotide polymorphisms. To provide a more definitive conclusion about their association with the risk of HCV infection, a meta-analysis was performed by combining and summarizing a total of 17 studies. A biological justification for the choice of genetic model was provided. The results indicated no significant association between these IL-10 polymorphisms and the susceptibility to HCV infection [–592C/A: odds ratio (OR) 0·99, 95% confidence interval (CI) 0·78–1·25; –819C/T: OR 0·90, 95% CI 0·69–1·18; –1082G/A: OR 1·34, 95% CI 0·90–2·00]. However, this analysis did not account for the possible risk modifications by other factors, such as ethnicity and virus persistence. Therefore, the effects of ethnicity and virus persistence were investigated using Bayesian meta-regression and subgroup analysis. Finally, an extended case-control association study was conducted in a Chinese population involving 1140 subjects. Both serum level and genotype data of IL-10 −1082G/A were determined. As a result, a low prevalence of G allele was observed. Significantly higher IL-10 production was observed in HCV patients, especially patients with the GG genotype.

scholarly journals Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Zoi Zagoriti ◽  
Marianthi Georgitsi ◽  
Olga Giannakopoulou ◽  
Fotios Ntellos ◽  
Socrates J. Tzartos ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Association Study ◽  
Genetic Variants ◽  
Late Onset ◽  
Interleukin 10 ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Potential Implication ◽  
Common Genetic Variants ◽  
Control Association

Myasthenia gravis (MG) is an heterogeneous autoimmune disease characterized by the production of autoantibodies against proteins of the postsynaptic membrane, in the neuromuscular junction. The contribution of genetic factors to MG susceptibility has been evaluated through family and twin studies however, the precise genetic background of the disease remains elusive. We conducted a case-control association study in 101 unrelated MG patients of Hellenic origin and 101 healthy volunteers in order to assess the involvement of common genetic variants in susceptibility to MG. We focused on three candidate genes which have been clearly associated with several autoimmune diseases, aiming to investigate their potential implication in MG pathogenesis. These are interferon regulatory factor 5 (IRF-5), TNFα-induced protein 3 (TNFAIP3), also known as A20, and interleukin-10 (IL-10), key molecules in the regulation of immune function. A statistical trend of association (P=0.068) betweenIL-10promoter single nucleotide polymorphisms (SNPs) and the subgroups of early and late-onset MG patients was revealed. No statistically significant differences were observed in the rest of the variants examined. As far as we are aware, this is the first worldwide attempt to address the possible association betweenIRF-5andTNFAIP3common genetic variants and the genetic basis of MG.

scholarly journals Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPβ1 gene

2020 ◽  
Author(s):  
João Paulo L. F. Guilherme ◽  
Tacito P Souza-Junior ◽  
Antônio H Lancha Júnior
Keyword(s):  
Association Study ◽  
Nucleotide Polymorphisms ◽  
Combat Sport ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Sport Athlete ◽  
World Class ◽  
Control Association ◽  
Brazilian Cohort ◽  
Aerobic Energy Production

Combat sports have an intermittent nature, with mixed anaerobic and aerobic energy production. Here, we investigated whether polymorphisms that have been previously suggested as genetic markers for endurance or power phenotypes were associated with combat-sport athletic status. A total of 23 previously reported performance-related polymorphisms were examined in a Brazilian cohort of 1,129 individuals (164 combat-sport athletes and 965 controls), using a case-control association study. We found that the GABPβ1 gene (also known as NRF2) was associated with athletic status, with the minor G (rs7181866) and T (rs8031031) alleles overrepresented in athletes (P ≤ 0.003), especially among world-class competitors (P ≤ 0.0002). These findings indicate that single nucleotide polymorphisms (SNPs) within the GABPβ1 gene increase the likelihood of an individual being a combat-sport athlete, possibly due to a better mitochondrial response to intermittent exercises.

scholarly journals Identification of 20 novel loci associated to ischemic stroke. Epigenome-Wide Association Study

2019 ◽  
Author(s):  
Carolina Soriano-Tárraga ◽  
Uxue Lazcano ◽  
Eva Giralt-Steinhauer ◽  
Carla Avellaneda-Gómez ◽  
Ángel Ois ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Ischemic Stroke ◽  
Association Study ◽  
Genetic Variants ◽  
Meta Analysis ◽  
Epigenetic Mechanism ◽  
Regulatory Sequence ◽  
Nucleotide Polymorphisms ◽  
Stroke Subtypes ◽  
Discovery Sample

ABSTRACTRationaleDNA methylation is dynamic, varies throughout the life course, and its levels are influenced by lifestyle and environmental factors, as well as by genetic variation. The leading genetic variants at stroke risk loci identified to date explain roughly 1–2% of stroke heritability. Most of these single nucleotide polymorphisms are situated within a regulatory sequence marked by DNase I hypersensitivity sites, which would indicate involvement of an epigenetic mechanism.ObjectiveTo detect epigenetic variants associated to stroke occurrence and stroke subtypes.Methods and ResultsA two-stage case-control epigenome-wide association study was designed. The discovery sample with 401 samples included 218 ischemic stroke (IS) patients, assessed at Hospital del Mar (Barcelona, Spain) and 183 controls from the REGICOR cohort. In two independent samples (N=226 and N=166), we replicated 22 CpG sites differentially methylated in IS in 21 loci, including 2 CpGs in locus ZFHX3, which includes known genetic variants associated with stroke. The pathways associated to these loci are inflammation and angiogenesis. The meta-analysis identified 384 differentially methylated CpGs, including loci of known stroke and vascular risk genetic variants, enriched by loci involved in lipid metabolism, adipogenesis, circadian clock, and glycolysis pathways. Stratification analysis by stroke subtypes revealed distinct methylation patterns.ConclusionsWe identified a set of 22 CpGs in 21 loci associated with IS. Our analysis suggests that DNA methylation changes may contribute to orchestrating gene expression that contributes to IS.

Analysis of multiple genetic loci reveals MPDZ-NF1B rs1324183 as a putative genetic marker for keratoconus

2018 ◽  
Vol 102 (12) ◽  
pp. 1736-1741 ◽  
Author(s):  
Yu Meng Wang ◽  
Li Ma ◽  
Shi Yao Lu ◽  
Tommy Chung Yan Chan ◽  
Jason C S Yam ◽  
...  
Keyword(s):  
Genetic Marker ◽  
Meta Analysis ◽  
Severe Form ◽  
Sphere Diameter ◽  
Nucleotide Polymorphisms ◽  
Genetic Loci ◽  
Cross Sectional ◽  
Individual Snps ◽  
Chinese Cohort ◽  
Control Association

ObjectiveTo investigate the associations between 16 single-nucleotide polymorphisms (SNPs) in 14 genetic loci and keratoconus in an independent Chinese cohort.MethodsThis cross-sectional, case-control association study included a Chinese cohort of 133 patients with keratoconus and 371 control subjects. In a recent meta-analysis study, we identified association of 16 SNPs in 14 gene loci with keratoconus. In this study, we genotyped these 16 SNPs in all the patients and controls and analysed their association with keratoconus, its clinical severities and progression profiles. We also analysed the genotype-phenotype correlation between individual SNPs and steep keratometry, flat keratometry (Kf), average keratometry (Avg K) and best-fit sphere diameter (BFS) of the anterior and posterior corneal surface.ResultsAmong the 16 selected SNPs, rs1324183 in the MPDZ-NF1B locus showed a significant association with keratoconus (OR=2.22; 95% CI 1.42 to 3.45, p=4.30×10–4), especially severe keratoconus (OR=5.10, 95% CI 1.63 to 15.93, p=0.005). The rs1324183 A allele was positively associated with anterior Kf (p=0.008), anterior Avg K (p=0.017), posterior Kf (p=0.01) and negatively associated with apex pachymetry (p=0.007) and anterior BFS (p=0.023) in keratoconus. The other 15 SNPs had no significant association with keratoconus or genotype-phenotype correlations.ConclusionsThis study confirmed the association of SNP rs1324183 in MPDZ-NF1B with keratoconus and revealed the association of this SNP with keratoconus severity and corneal parameters. It is thus a putative genetic marker for monitoring the progression of keratoconus to a severe form and facilitating early intervention.

scholarly journals A genome-wide association study of reproduction traits in four pig populations with different genetic backgrounds

2020 ◽  
Vol 33 (9) ◽  
pp. 1400-1410
Author(s):  
Yao Jiang ◽  
Shaoqing Tang ◽  
Wei Xiao ◽  
Peng Yun ◽  
Xiangdong Ding
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Nucleotide Polymorphisms ◽  
Multiple Trait ◽  
Multiple Populations ◽  
Genome Wide ◽  
A Genome ◽  
Reproduction Traits

Objective: Genome-wide association study and two meta-analysis based on GWAS performed to explore the genetic mechanism underlying variation in pig number born alive (NBA) and total number born (TNB).Methods: Single trait GWAS and two meta-analysis (single-trait meta analysis and multitrait meta analysis) were used in our study for NBA and TNB on 3,121 Yorkshires from 4 populations, including three different American Yorkshire populations (n = 2,247) and one British Yorkshire populations (n = 874).Results: The result of single trait GWAS showed that no significant associated single nucleotide polymorphisms (SNPs) were identified. Using single-trait meta analysis and multi-trait meta analysis within populations, 11 significant loci were identified associated with target traits. Spindlin 1, vascular endothelial growth factor A, forkhead box Q1, msh homeobox 1, and LHFPL tetraspan submily member 3 are five functionally plausible candidate genes for NBA and TNB. Compared to the single population GWAS, single-trait Meta analysis can improve the detection power to identify SNPs by integrating information of multiple populations. The multiple-trait analysis reduced the power to detect trait-specific loci but enhanced the power to identify the common loci across traits.Conclusion: In total, our findings identified novel genes to be validated as candidates for NBA and TNB in pigs. Also, it enabled us to enlarge population size by including multiple populations with different genetic backgrounds and increase the power of GWAS by using meta analysis.

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