The rs10885122 polymorphism of the adrenoceptor alpha 2A (ADRA2A) gene in Euro-Brazilians with type 2 diabetes mellitus

Welter, Marciane; Frigeri, Henrique Ravanhol; Réa, Rosângela Roginski; Souza, Emanuel Maltempi de; Alberton, Dayane; Picheth, Geraldo

doi:10.1590/2359-3997000000006

Cited by 5 publications

(3 citation statements)

References 29 publications

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“…However, several studies have reported no association between FTO rs8050136 and T2D or GDM. Studies in the Euro-Brazilians [46], a European population [44], a Russian population [47], and multiethnic populations from North America [48][49][50] have shown no association with T2D. Similar results were obtained from studies on Asian populations with different ethnicities, including, East Asian, South Asian, and Middle Eastern [51][52][53].…”

Section: Introductionsupporting

confidence: 63%

“…In this study, a total of 70070 samples consisting of 26231 cases and 43839 controls from 24 different publications and 25 different studies were analyzed [ 20 , 21 , 34 – 40 , 43 – 46 , 51 , 72 – 81 ]. The heterogeneity between studies was high, with I 2 ranging from 52% to 68% for all comparisons except for the AA vs. AC model, where it was 37%, thus the random effect model was employed to calculate the ORs and 95% CIs for all genetic models ( S3 Table ).…”

Section: Resultsmentioning

confidence: 99%

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Type 2 diabetes linked FTO gene variant rs8050136 is significantly associated with gravidity in gestational diabetes in a sample of Bangladeshi women: Meta-analysis and case-control study

Amin,

Rahman,

Hasan

et al. 2023

PLoS ONE

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Objective Gestational diabetes mellitus (GDM) is a growing public health concern that has not been extensively studied. Numerous studies have indicated that a variant (rs8050136) of the fat mass-associated gene, FTO, is associated with both GDM and Type 2 diabetes mellitus(T2DM). We conducted a meta-analysis on the association between the FTO single nucleotide polymorphism (SNP) rs8050136 and T2DM, followed by a case-control study on the association of the said SNP and GDM in a sample of Bangladeshi women. Method A total of 25 studies were selected after exploring various databases and search engines, which were assessed using the Newcastle-Ottawa Scale (NOS). The MetaGenyo web tool was used to conduct this meta-analysis. A case-control study was performed on 218 GDM patients and 284 controls to observe any association between FTO rs8050136 and GDM. Genotyping was performed using the tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS) method, and statistical analyses were performed using various statistical softwares. Results In the meta-analysis 26231 cases and 43839 controls were examined. Pooled association analyses revealed a statistically significant relationship between the FTO rs8050136 polymorphism and an elevated risk of T2DM under all genetic models (P<0.05). In the case-control study, synergistic analyses of the SNP and gravida with GDM revealed a significant (P<0.01) association with an increase in odds by 1.6 to 2.4 folds in multigravida and decrease in odds by 2 folds in primigravida. A positive family history of diabetes and the minor allele of this SNP collectively increased the risk of developing GDM by many-fold (1.8 to 2.7 folds). However, after accounting for family history of diabetes and gravidity, analyses showed no significant association with GDM. Conclusion Our meta-analysis revealed a significant association between SNP rs8050136 of FTO with T2DM, and this variant was substantially associated with an increased risk of GDM in a sample of Bangladeshi multigravida women.

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Section: Introductionsupporting

confidence: 63%

Section: Resultsmentioning

confidence: 99%

Type 2 diabetes linked FTO gene variant rs8050136 is significantly associated with gravidity in gestational diabetes in a sample of Bangladeshi women: Meta-analysis and case-control study

Amin,

Rahman,

Hasan

et al. 2023

PLoS ONE

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“…Complex traits are mainly driven by noncoding variations that presumably affect gene regulation (Pickrell, 2014; Welter et al, 2015). Recently, the tag‐SNP rs17728461 in 22q12.2 is highly associated with lung cancer risk (Hu et al, 2011), and we have found preliminary evidence for a putative lung cancer‐promoting enhancer in this chromatin region.…”

Section: Introductionmentioning

confidence: 99%

The enhancer rare germline variation rs548071605 contributes to lung cancer development

Wang

Yang

et al. 2021

Human Mutation

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Rare germline variations contribute to the missing heritability of human complex diseases including cancers. Given their very low frequency, discovering and testing disease‐causing rare germline variations remains challenging. The tag‐single nucleotide polymorphism rs17728461 in 22q12.2 is highly associated with lung cancer risk. Here, we identified a functional rare germline variation rs548071605 (A>G) in a p65‐responsive enhancer located within 22q12.2. The enhancer significantly promoted lung cancer cell proliferation in vitro and in a xenograft mouse model by upregulating the leukemia inhibitory factor (LIF) gene via the formation of a chromatin loop. Differential expression of LIF and its significant correlation with first progression survival time of patients further supported the lung cancer‐driving effects of the 22q‐Enh enhancer. Importantly, the rare variation was harbored in the p65 binding sequence and dramatically increased the enhancer activity by increasing responsiveness of the enhancer to p65 and B‐cell lymphoma 3 protein, an oncoprotein that assisted the p65 binding. Our study revealed a regulatory rare germline variation with a potential lung cancer‐driving role in the 22q12.2 risk region, providing intriguing clues for investigating the “missing heritability” of cancers, and also offered a useful experimental model for identifying causal rare variations.

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Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches

Sayed

Nabi

2020

Advances in Experimental Medicine and Biology

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The rs10885122 polymorphism of the adrenoceptor alpha 2A (ADRA2A) gene in Euro-Brazilians with type 2 diabetes mellitus

Cited by 5 publications

References 29 publications

Type 2 diabetes linked FTO gene variant rs8050136 is significantly associated with gravidity in gestational diabetes in a sample of Bangladeshi women: Meta-analysis and case-control study

Type 2 diabetes linked FTO gene variant rs8050136 is significantly associated with gravidity in gestational diabetes in a sample of Bangladeshi women: Meta-analysis and case-control study

The enhancer rare germline variation rs548071605 contributes to lung cancer development

Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches

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