Frequency of PPAR-γ, FTO and ABCC8 genetic variation in Pakistani cardiovascular smokers

Rehman, Kanwal; Tahir, Ayesha; Niaz, Sania; Shabbir, Sara; Jabeen, Komal; Faheem, Amna; Akash, Muhammad Sajid Hamid

doi:10.1007/s11356-020-10226-z

Cited by 3 publications

(5 citation statements)

References 30 publications

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“…It belongs to the ATP binding cassette transporter superfamily, which regulates multidrug resistance of cells by transporting various molecules across extra and intracellular membranes. Numerous studies have indicated the association between ABCC8 and diabetes, hypertension, cardiac diseases, and metabolic disorders (Rehman et al, 2022;Rehman et al, 2020). In the nerve system, ABCC8 has been found to control the activity of ATP-sensitive potassium channels (Martin et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

“…ABCC8 variant was linked with diabetes and hypertension by numerous studies (Beltrand et al, 2020;de Franco et al, 2020;Flagg et al, 2007;Southgate et al, 2020). Recently, Rehman et al (2022Rehman et al ( , 2020 also reported that the genetic variant of ABCC8 is associated with cardiac diseases and metabolic disorders. Loss-of-function mutations of ABCC8 were also reported by Bohnen et al (2018) to be associated with pulmonary arterial hypertension (Bohnen et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

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ABCC8 is correlated with immune cell infiltration and overall survival in lower grade glioma

GONG¹,

Jia²

2023

Biocell

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ATP binding cassette subfamily C member 8 (ABCC8) encodes a protein regulating the ATP-sensitive potassium channel. Whether the level of ABCC8 mRNA in lower grade glioma (LGG) correlates with immune cell infiltration and patient outcomes has not been evaluated until now. Comparisons of ABCC8 expression between different tumors and normal tissues were evaluated by exploring publicly available datasets. The association between ABCC8 and tumor immune cell infiltration, diverse gene mutation characteristics, tumor mutation burden (TMB), and survival in LGG was also investigated in several independent datasets. Pathway enrichment analysis was conducted to search for ABCC8-associated signaling pathways. Through an online database, we found that ABCC8 expression in LGG was lower than in normal tissues. Then, the association of ABCC8 expression and immune cell infiltration in LGG was discussed. As we expected, the ABCC8 mRNA levels were negatively associated with non-T immune cell infiltration levels in all datasets. Consistently, TCGA_LGG RNA-seq data revealed that ABCC8 downregulated several non-T immune cell-associated signaling pathways in gene set enrichment analysis. Different ABCC8 expression groups showed diverse gene mutation characteristics and TMB. The high expression of ABCC8 was linked to improved survival of LGG patients. A pathway enrichment analysis of ABCC8-associated genes indicated that the GABAergic synapse signaling pathway might be involved in regulating immunity in LGG. Our findings show that ABCC8 reflects LGG tumor immunity and is an ideal prognostic biomarker for LGG.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

ABCC8 is correlated with immune cell infiltration and overall survival in lower grade glioma

GONG¹,

Jia²

2023

Biocell

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“…CVDs include coronary artery disease (CAD), myocardial infarction (MI), cardiomyopathy, and congenital heart defects. Various risk factors like smoking, being overweight, raised cholesterol level, poor diet, lack of exercise, diabetes mellitus (DM), socioeconomic status, gender, and demography lead to CVDs (Chauhdary et al, 2021;Cheng et al, 2017;Rehman et al, 2020b). Other risk factors involve lipoprotein-associated phospholipase A2, Creactive protein, fibrinogen, low-density lipoprotein particle number, lipoprotein a, triglycerides, plasminogen activator inhibitors, and interleukin-6 (Cornelis et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

“…M235T polymorphism in the AGT gene MI is a multifactorial disease affected by genetic mutation and various environmental factors like diet, stress, daily routine, etc. A wide range of risk factors, including smoking, hypertension, and hyperlipidemia, lead to MI (Rehman et al, 2020b). Atherosclerosis and thrombogenesis also contribute to the pathogenesis of MI.…”

Section: Introductionmentioning

confidence: 99%

Biochemical association between the prevalence of genetic polymorphism and myocardial infarction

Shahid¹,

Rehman²,

Akash³

et al. 2023

Biocell

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Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction (MI).Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state. A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants. Genetic polymorphism of angiotensinogen (AGT) M235T, AGT T174M, and angiotensin-1-converting enzyme (ACE) I/D, endothelial nitric oxide synthase (eNOS), and methylenetetrahydrofolate reductase (MTHFR) can be a risk factor for MI. However, it is important to study the prevalence of genetic polymorphisms of these genes among different populations. MI is influenced by genetic polymorphism of various genes, including AGT, ACE, eNOS, MTHFR, etc. However, the association of genetic polymorphism of these genes varies among different populations, but different ethnic groups could show contradictory results. These genes have shown a positive association with risks of MI in some populations, whereas the results have not been consistent with every ethnic group. In this article, we have summarized the genetic variations in the aforementioned genes and their association with MI.

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“…The KATP variants are associated with T2D-related stroke in the Poles (e.g., rs1799854 ) ( 18 ), coronary atherosclerotic heart disease (CAD) in the British (e.g., rs757110 and rs61688134 ) ( 9 , 19 ), HF in the Ukrainians (e.g., rs5210 , rs5219 and rs757110 ) ( 20 ) and the Americans (e.g., rs5219 ) ( 21 ), and AF in the Americans (e.g., rs72554071 ) ( 22 ). Importantly, these cardiovascular risks may be higher under the crosstalk between KATP mutation (e.g., rs757110 ) and traditional risk factors (e.g., smoking) ( 23 ).…”

Section: Introductionmentioning

confidence: 99%

Associations of ATP-Sensitive Potassium Channel’s Gene Polymorphisms With Type 2 Diabetes and Related Cardiovascular Phenotypes

Liu

Lai

Guan

et al. 2022

Front. Cardiovasc. Med.

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Type 2 diabetes (T2D) is characterized by increased levels of blood glucose but is increasingly recognized as a heterogeneous disease, especially its multiple discrete cardiovascular phenotypes. Genetic variations play key roles in the heterogeneity of diabetic cardiovascular phenotypes. This study investigates possible associations of ATP-sensitive potassium channel (KATP) variants with cardiovascular phenotypes among the Chinese patients with T2D. Six hundred thirty-six patients with T2D and 634 non-diabetic individuals were analyzed in the study. Nine KATP variants were determined by MassARRAY. The KATP rs2285676 (AA + GA, OR = 1.43, 95% CI: 1.13–1.81, P = 0.003), rs1799858 (CC, OR = 1.42, 95% CI: 1.12–1.78, P = 0.004), and rs141294036 (CC, OR = 1.45, 95% CI: 1.15–1.83, P = 0.002) are associated with increased T2D risk. A follow-up of at least 45.8-months (median) indicates further association between the 3 variants and risks of diabetic-related cardiovascular conditions. The associations are categorized as follows: new-onset/recurrent acute coronary syndrome (ACS) (rs2285676/AA + GA, HR = 1.37, 95% CI: 1.10–1.70, P = 0.005; rs141294036/TT + CT, HR = 1.59, 95% CI: 1.28–1.99, P < 0.001), new-onset stroke (rs1799858/CC, HR = 2.58, 95% CI: 1.22–5.43, P = 0.013; rs141294036/CC, HR = 2.30, 95% CI: 1.16–4.55, P = 0.017), new-onset of heart failure (HF) (rs1799858/TT + CT, HR = 2.78, 95% CI: 2.07–3.74, P < 0.001; rs141294036/TT + CT, HR = 1.45, 95% CI: 1.07–1.96, P = 0.015), and new-onset atrial fibrillation (AF) (rs1799858/TT + CT, HR = 2.05, 95% CI: 1.25–3.37, P = 0.004; rs141294036/CC, HR = 2.31, 95% CI: 1.40–3.82, P = 0.001). In particular, the CC genotype of rs1799858 (OR = 2.38, 95% CI: 1.11–5.10, P = 0.025) and rs141294036 (OR = 1.95, 95% CI: 1.04–3.66, P = 0.037) are only associated with the risk of ischemic stroke while its counterpart genotype (TT + CT) is associated with the risks of HF with preserved ejection fraction (HFpEF) (rs1799858, OR = 3.46, 95% CI: 2.31–5.18, P < 0.001) and HF with mildly reduced ejection fraction (HFmrEF) (rs141294036, OR = 2.74, 95% CI: 1.05–7.15, P = 0.039). Furthermore, the 3 variants are associated with increased risks of abnormal serum levels of triglyceride (TIRG) (≥ 1.70 mmol/L), low-density lipoprotein cholesterol (LDL-C) (≥ 1.40 mmol/L), apolipoprotein B (ApoB) (≥ 80 mg/dL), apolipoprotein A-I (ApoA-I) level (< 120 mg/dL), lipoprotein(a) Lp(a) (≥ 300 mg/dL) and high-sensitivity C-reactive protein (HsCRP) (≥ 3.0 mg/L) but exhibited heterogeneity (all P < 0.05). The KATP rs2285676, rs1799858, and rs141294036 are associated with increased risks of T2D and its related cardiovascular phenotypes (ACS, stroke, HF, and AF), but show heterogeneity. The 3 KATP variants may be promising markers for diabetic cardiovascular events favoring “genotype-phenotype” oriented prevention and treatment strategies.

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Frequency of PPAR-γ, FTO and ABCC8 genetic variation in Pakistani cardiovascular smokers

Cited by 3 publications

References 30 publications

ABCC8 is correlated with immune cell infiltration and overall survival in lower grade glioma

ABCC8 is correlated with immune cell infiltration and overall survival in lower grade glioma

Biochemical association between the prevalence of genetic polymorphism and myocardial infarction

Associations of ATP-Sensitive Potassium Channel’s Gene Polymorphisms With Type 2 Diabetes and Related Cardiovascular Phenotypes

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