Genetic association of &lt;i&gt;ARID5B&lt;/i&gt; with the risk of colorectal cancer within Jammu and Kashmir, India

Sharma, Bhanu; Angurana, Shabab; Shah, Ruchi; Verma, Sonali; Bhat, Amrita; Bhat, G. M.; Bakshi, Divya; Jamwal, Rajeshwer Singh; Tanwar, Mukesh; Singh, Supinder; Bhat, Audesh; Vaishnavi, Samantha; Kumar, Rakesh

doi:10.1266/ggs.21-00010

Cited by 3 publications

(2 citation statements)

References 29 publications

(23 reference statements)

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“…Variants in the ARID5B gene have also been related to ALL regarding relapse and treatment response [ 49 ]. It has also been associated with risk of developing colorectal cancer [ 50 ], participation in breast cancer metabolism [ 51 ], and with a protein with unregulated function in prostate cancer [ 52 ]. These findings suggest that this gene plays an important role in the carcinogenic process.…”

Section: Discussionmentioning

confidence: 99%

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia

Pantoja

Azevedo²,

Carvalho

et al. 2022

Genes

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Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm derived from the balanced reciprocal translocation of chromosomes 9 and 22 t (9q34 and 22q11), which leads to the formation of the Philadelphia chromosome and fusion of the BCR-ABL genes. The first-line treatment for CML is imatinib, a tyrosine kinase inhibitor that acts on the BCR-ABL protein. However, even though it is a target-specific drug, about 25% of patients do not respond to this treatment. The resistance mechanisms involved in this process have been investigated and studies have shown that germinal alterations can influence this mechanism. The aim of this work was to investigate 32 polymorphisms in 24 genes of carcinogenic pathway to verify the influence of these genetic variants on the response to treatment with imatinib. Our results demonstrated that individuals with the recessive GG genotype for the rs2372536 variant in the ATIC gene are approximately three times more likely to experience treatment failure with imatinib (p = 0.045, HR = 2.726, 95% CI = 0.9986–7.441), as well as individuals with the TT genotype for the rs10821936 variant in the ARID5B gene, who also have a higher risk for treatment failure with imatinib over time (p = 0.02, HR = 0.4053, IC 95% = 0.1802–0.911). In conclusion, we show that variants in the ATIC and ARIDB5 gene, never screened in previous studies, could potentially influence the therapeutic response to imatinib in patients treated for CML.

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Section: Discussionmentioning

confidence: 99%

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia

Pantoja

Azevedo²,

Carvalho

et al. 2022

Genes

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“…The chi-squared test was used to evaluate the Hardy-Weinberg equilibrium or allele frequencies of all SNPs [ 23 , 24 ]. Unconditional logistic regression was conducted to calculate the adjusted odds ratio (OR) and 95% confidence intervals (95% CI).…”

Section: Methodsmentioning

confidence: 99%

The impact of ABCB1 and CES1 polymorphisms on the safety of dabigatran in patients with non-valvular atrial fibrillation

Zhu

Qian

et al. 2022

BMC Cardiovasc Disord

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Background This study aimed to analyze associations between genetic variants and plasma concentrations along with clinical outcomes in dabigatran in patients with non-valvular atrial fibrillation (NVAF). Methods We conducted a prospective study and enrolled NVAF patients treated with dabigatran in the real world. A total of 86 patients treated with 110 mg DE twice daily were recruited for this study. Blood samples were obtained from each patient and used for genotyping and determination of plasma dabigatran concentration. All bleeding and thromboembolic complications were recorded during the 1.5 years of follow-up. Results Eighty-three patients provided samples at the trough plasma level of dabigatran, and 58 patients provided samples at the peak plasma level of dabigatran. There was a significant association between the CES1 SNP rs8192935 and trough plasma concentrations of dabigatran (P = 0.013). Our results showed that the CES1 SNP rs8192935 significantly influenced dabigatran trough concentrations in the Chinese population, and carriers of the G allele had increased trough plasma concentrations of dabigatran compared to noncarriers. The ABCB1 SNP c.2482-2236G > A (rs4148738) was associated with major bleeding events in the addictive model (P = 0.046, OR = 3.29) and dominant model (P = 0.040, OR = 8.17). Additionally, the ABCB1 SNP c.3435 C > T (rs1045642) was associated with the incidence of major bleeding events in the addictive model (P = 0.043, OR = 3.34) and dominant model (P = 0.046, OR = 7.77). However, no significant associations were found between all the SNPs and the incidence of minor bleeding events. Conclusion Our results indicated that the CES1 polymorphism rs8192935 was associated with trough plasma concentrations of dabigatran. Carriers of the G allele had increased trough plasma concentrations of dabigatran compared to noncarriers. The ABCB1 polymorphisms rs4148738 and rs1045642 were associated with an increased risk for major bleeding events for the first time in a Chinese population.

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ARID5B promoted the histone demethylation of SORBS2 and hampered the metastasis of ovarian cancer

Deng,

Dong,

et al. 2023

Pathology - Research and Practice

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Genetic association of <i>ARID5B</i> with the risk of colorectal cancer within Jammu and Kashmir, India

Cited by 3 publications

References 29 publications

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia

The impact of ABCB1 and CES1 polymorphisms on the safety of dabigatran in patients with non-valvular atrial fibrillation

ARID5B promoted the histone demethylation of SORBS2 and hampered the metastasis of ovarian cancer

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