<i>CYP2D6</i>genetic polymorphisms in Saudi systemic lupus erythematosus patients

Hassen, Lena M; Daghestani, Maha H.; Omair, Mohammed A.; Althomali, Arwa; Al-Mukaynizi, Fatimah Basil; Almaghlouth, Ibrahim

doi:10.15537/smj.2023.44.3.20220581

Cited by 2 publications

(1 citation statement)

References 37 publications

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“…Intriguingly, the T allele of rs2004511 was more effective in reducing DBP than the C allele, displaying a lower frequency in the Uygur population [19,37] and East Asian populations in genomic databases (Table 3). Moreover, polymorphisms such as rs28371725 and rs28371702 were associated with different clinical conditions, highlighting their potential roles in personalized medicine strategies [31,[38][39][40].…”

Section: Discussionmentioning

confidence: 99%

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Yang,

Zhang,

Shu

et al. 2024

Pharmacogenetics and Genomics

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Objective The CYP2D6 enzyme is crucial for the metabolism and disposition of a variety of drugs. This study was conducted to examine the relationship between CYP2D6 gene polymorphisms and the response to angiotensin receptor blocker (ARB)-based treatment in patients of Chinese Bai ethnicity with hypertension. Methods Seventy-two hypertensive adults from the Chinese Bai ethnic group, exhibiting systolic blood pressure (SBP) ≥ 140 mmHg or diastolic blood pressure (DBP) ≥ 90 mmHg, were recruited. Targeted regional sequencing was utilized to genotype single nucleotide polymorphisms in the CYP2D6 gene, aiming to assess their frequency and to evaluate their influence on the therapeutic efficacy of ARB medications. Results Our research identified nine significant CYP2D6 polymorphisms associated with the efficacy of ARB treatment in the Bai hypertensive cohort. Specifically, patients possessing certain mutant genotype at rs111564371 exhibited substantially greater reductions in SBP and DBP, with P-values of 0.021 and 0.016, respectively, compared to those carrying the wild genotype. Additionally, these mutant genotype at rs111564371 and rs112568578 were linked to approximately 20% higher overall efficacy rates and a 10% increased achievement rate relative to the wild genotype. Conclusion Our research with the Bai hypertensive group shows that certain CYP2D6 polymorphisms significantly influence ARB treatment outcomes. Mutations at rs111564371 led to better blood pressure control (P-values: 0.021 for SBP, 0.016 for DBP), improving ARB efficacy by appromixately 20% and increasing treatment goal achievement by 10% over the wild-type genotype. Statements Our investigation into CYP2D6 polymorphisms within the Bai hypertensive cohort marks a substantial advancement towards personalized healthcare, underscoring the pivotal influence of genetic constitution on the effectiveness of ARB therapy.

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Section: Discussionmentioning

confidence: 99%

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Yang,

Zhang,

Shu

et al. 2024

Pharmacogenetics and Genomics

View full text Add to dashboard Cite

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Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population

Luo,

Du,

Zhao

et al. 2024

Lupus

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Objective This study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population. Methods Expanding on the results of a prior single-center observational study involving 60 systemic lupus erythematosus patients, a subsequent single-center prospective observational study was conducted on SLE patients undergoing treatment at Nanfang Hospital Affiliated to Southern Medical University from 2021 to 2023. The identification process for drug-related target genes entailed an extensive search across PharmGKB ( https://www.pharmgkb.org/ ), the Clinical Pharmacogenetics Implementation Consortium (CPIC),and PubMed literature databases, to pinpoint common drugs and target single nucleotide polymorphisms(SNPs)for SLE. Blood samples were individually collected and genotyped using MassARRAY® high-throughput nucleic acid mass spectrometry. Genotype frequency differences were assessed through Chi-square tests against both the larger East Asian population as well as kidney transplant recipients. Data collection relied on electronic medical records, encompassing demographic details(age, gender),medication regimens(hormones, NSAIDs, hydroxychloroquine, DMARDs, biologic agents, stomach medications, calcitriol, etc.),laboratory indicators(RF, Anti-CCP antibody, ESR, CRP, anti-ANA antibodies, dsDNA antibodies, anti-SM antibodies, S m. RNP antibodies, A LT, ALB, CR, UA, WBC, PLT, HGB, Ca, K, Glu, CHOL, TG, LDL-C, HDL-C) and lupus activity scores(SLEDAI-2K). Possible disease susceptibility genes were categorized, and SPSS26 software facilitated statistical analyses. Results The research encompassed a total of 137 SLE patients along with 50 SNPs. After conducting statistical analyses, it emerged that there existed significant disparities in CYP2D6 gene (rs1065852) distribution when compared against allele mutation rates within both East Asian populations ( p < .05) and kidney transplant patients( p < .05). Wild-type gene (GG) constituted 14% of cases while mutant gene (GA + AA) constituted 86%. Allele mutation rate (A63.6%) was significantly higher among SLE patients (RR = 0.802; p = .0355). Furthermore, the variant rs1065852 genotype (GA + AA) demonstrated significant associations with lower CRP levels, higher HGB levels, and higher HDL-C levels ( p < 0 0.05). Conclusion The metabolic enzyme CYP2D6 may be used as susceptibility gene for predicting systemic lupus erythematosus and are correlated with CRP and other indicators.

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CYP2D6genetic polymorphisms in Saudi systemic lupus erythematosus patients

Cited by 2 publications

References 37 publications

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population

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