<i>GDF15(MIC1)</i>H6D Polymorphism Does Not Influence Cardiovascular Disease in a Latin American Population with Rheumatoid Arthritis

Amaya-Amaya, Jenny; Rojas-Villarraga, Adriana; Molano-González, Nicolas; Montoya-Sánchez, Laura; Nath, Swapan K.; Anaya, Juan Manuel

doi:10.1155/2015/270763

Cited by 5 publications

(5 citation statements)

References 35 publications

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“…They found that significant differences concerning rs1058587 polymorphism were not obtained between RA patients and controls. 20 Our findings were partly similar to the above findings. For example, regarding rs4808793, our results also showed no significant differences between RA patients and controls.…”

Section: Discussionsupporting

confidence: 92%

“… 19 The authors reported that the distribution of genotypes GG and GC of rs1058587 differed significantly between RA patients and controls. 19 Moreover, Amaya-Amaya et al 20 evaluated rs1058587 polymorphism with RA risk in 310 Latin Americans by TaqMan allelic discrimination assay. They found that significant differences concerning rs1058587 polymorphism were not obtained between RA patients and controls.…”

Section: Discussionmentioning

confidence: 99%

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Association of Growth and Differentiation Factor 15 in Rheumatoid Arthritis

YW¹,

CS²

2022

JIR

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Purpose Rheumatoid arthritis (RA) is an inflammatory rheumatic disease, which has been demonstrated to correlate with mutated genetics. Growth and differentiation factor 15 (GDF-15) is a member of the transforming growth factor-β superfamily and is expressed in different organs, tissues and immune cells. To date, limited studies have evaluated plasma levels of GDF-15 in RA patients, and whether GDF-15 gene polymorphisms correlate with RA risk in the Chinese Han population has not been clarified. Patients and Methods This case-control study recruited 910 age- and sex-matched RA patients and healthy controls. Plasma levels of GDF-15 were examined by enzyme linked immunosorbent assay, and polymorphisms (rs1055150, rs1058587, rs3787023, and rs4808793) were genotyped by KASP method. Results RA patients had higher levels of GDF-15 as compared to that in healthy controls. Patients with positive CRP also showed higher levels of GDF-15 when compared to that in patients with negative CRP. Levels of GDF-15 correlated with disease activity score. Frequencies of GG, GC, GG+GC genotypes and G allele in GDF-15 gene rs1058587 were significantly elevated in RA patients compared to controls. Frequencies of CC genotype and C allele in GDF-15 gene rs3787023 were higher in RA patients compared to controls. Other polymorphisms did not correlate with RA susceptibility. Moreover, the four polymorphisms were not correlated with levels of GDF-15. Conclusion Plasma levels of GDF-15 were elevated in RA patients and GDF-15 gene polymorphisms were related to RA risk in the Chinese Han population.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Association of Growth and Differentiation Factor 15 in Rheumatoid Arthritis

YW¹,

CS²

2022

JIR

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“…The wild-type variant (H) is associated with HG in this study, and has been associated with increased serum GDF15, and with a reduction in body weight, abdominal fat, body mass index and obesity. 16,33 Cryo-EM predicted H6D is an interface residue that may partially alter GDF15-GFRAL interaction.…”

Section: R E Su Ltsmentioning

confidence: 99%

Whole‐exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum

Fejzo

MacGibbon

First

et al. 2022

BJOG

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Objective: A genome-wide association study (GWAS) linked the placenta and appetite hormone gene GDF15 to hyperemesis gravidarum (HG). This paradigmchanging finding has shifted the field away from the prevailing hypotheses, but more evidence is needed. This study was performed to identify coding variants in addition to the non-coding variants implicated by GWAS.Setting: Case-control research study performed in a university setting.Design: Case-control study.Population: Hyperemesis gravidarum cases requiring intravenous fluid treatment for disease (n = 926) and controls with normal or no nausea and vomiting of pregnancy (n = 660), from the USA.Methods: Whole exome-wide sequencing and genome informatics were performed using the standard Regeneron pipeline. All variants were compared between cases and controls using dominant, recessive, and allelic models to identify variants with exome-wide significant p values (p < 10 −6 ). Odds ratios and associated p values were calculated for exome-wide significant allele(s) in subgroups of genetically predicted ancestries. Variants were filtered to identify rare pathogenic variants occurring in ≥10 cases and in no controls.Main outcome measures: Identification of exome-wide significant and rare genetic variant(s) associated with HG.Results: A common coding variant in GDF15 was the only exome-wide significant association, and a rare coding variant in GDF15 was the only predicted diseasecausing variant occurring in 10 or more cases. Conclusions:This study confirms the GWAS finding that GDF15 is the greatest genetic risk factor for HG. The new variants identified may have implications for prediction and diagnosis. The findings provide insight into the cause, and molecular mechanisms for developing therapeutics for HG.

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“…Genetic studies are useful for determining predictive factors for diagnosing patients, and numerous studies regarding the genetics of RA have been performed (6)(7)(8). It is assumed that genetic factors account for 60% of the cause of RA susceptibility.…”

Section: Introductionmentioning

confidence: 99%

Lectin, galactoside-binding, soluble, 3 rs4652 A/C gene variation and the risk for rheumatoid arthritis

et al. 2017

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Rheumatoid arthritis (RA) is a complex genetic disease. The lectin, galactoside-binding, soluble, 3 (LGALS3) gene, encodes a member of the galectin family of carbohydrate binding proteins, and is one of the best examples of a non-human leukocyte antigen gene associated with a risk for RA in various populations. In the current study, the association between LGALS3 rs4652 gene polymorphism and RA was examined. This case-control study was performed on the 120 patients with RA and 120 healthy subjects. Genomic DNA was extracted from whole blood, and gene polymorphism was tested using a tetra-primer amplification refractory mutation system-polymerase chain reaction. The results demonstrated that LGALS3 rs4652 AC genotype increased the risk of RA (OR=11.622, 95% CI=4.473-28.656; P=0.001) when compared with the AA genotype. However, the CC genotype and the C allele were not associated with RA. These findings indicated an association between LGALS3 rs4652 variation and the risk of RA in a sample of Iranian individuals. Further studies with larger sample sizes and populations of different ethnicities are required to validate our findings.

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GDF15(MIC1)H6D Polymorphism Does Not Influence Cardiovascular Disease in a Latin American Population with Rheumatoid Arthritis

Cited by 5 publications

References 35 publications

Association of Growth and Differentiation Factor 15 in Rheumatoid Arthritis

Association of Growth and Differentiation Factor 15 in Rheumatoid Arthritis

Whole‐exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum

Lectin, galactoside-binding, soluble, 3 rs4652 A/C gene variation and the risk for rheumatoid arthritis

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