南非印度和高加索银屑病关节炎患者的MTHFR C677T rs1801133和TP53 Pro72Arg rs1042522基因变异

IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Genetics and Molecular Biology Pub Date : 2025-01-10 eCollection Date: 2025-01-01 DOI:10.1590/1678-4685-GMB-2023-0325
Pragalathan Naidoo, Ajesh B Maharaj, Terisha Ghazi, Anil A Chuturgoon
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引用次数: 0

摘要

亚甲基四氢叶酸还原酶(MTHFR)基因参与同型半胱氨酸和叶酸代谢。肿瘤抑制蛋白TP53基因维持细胞和遗传的完整性。迄今为止,没有研究将MTHFR C677T rs1801133和TP53 Pro72Arg rs1042522与银屑病关节炎(PsA)患者的CRP水平和甲氨蝶呤(一种叶酸拮抗剂)治疗结果联系起来。本研究旨在探讨MTHFR rs1801133和TP53 rs1042522基因变异是否影响南非印度和高加索PsA患者的CRP水平和甲氨蝶呤治疗结果。采用RFLP-PCR对PsA患者(114例)和健康对照(100例)进行rs1801133和rs1042522基因分型。(i) rs1801133基因分型结果:高加索患者与健康高加索对照相比,变异t等位基因的频率更高(40%对22%;OR=2.31, 95% CI=1.10-4.88, p=0.0379)。与野生型CC基因型相比,变异CT+TT基因型患者在基线时的中位CRP水平更高(11.70 (5.3-28.80)mg/mL vs 7.40 (5.00-15.05) mg/mL, p=0.0355)。甲氨蝶呤治疗6个月后,基因型之间的中位CRP水平降低并保持相似。(ii) rs1042522基因分型结果:印度患者与健康的印度对照相比,arg等位基因变异的频率更高(42%对29%;OR=1.75, 95% CI=1.07-2.86, p=0.0275)。综上所述,携带MTHFR rs1801133变异t等位基因的患者CRP水平升高,可通过甲氨蝶呤改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
MTHFR C677T rs1801133 and TP53 Pro72Arg rs1042522 gene variants in South African Indian and Caucasian psoriatic arthritis patients.

Methylenetetrahydrofolate reductase (MTHFR) gene is involved in homocysteine and folic acid metabolism. Tumour suppressor protein TP53 gene maintains cellular and genetic integrity. To date, no studies associated the MTHFR C677T rs1801133 and TP53 Pro72Arg rs1042522 with CRP levels and methotrexate (a folic acid antagonist) treatment outcomes in psoriatic arthritis (PsA) patients. The present study aimed to investigate whether the MTHFR rs1801133 and TP53 rs1042522 gene variants influences CRP levels and methotrexate treatment outcomes in South African Indian and Caucasian PsA patients. PsA patients (n=114) and healthy controls (n=100) were genotyped for the rs1801133 and rs1042522 using RFLP-PCR. (i) Results for rs1801133 genotyping: Caucasian patients had a higher frequency of the variant T-allele versus healthy Caucasian controls (40% versus 22%; OR=2.31, 95% CI=1.10-4.88, p=0.0379). Patients with the variant CT+TT genotypes had higher median CRP levels at baseline versus wildtype CC genotypes (11.70 (5.3-28.80) mg/mL versus 7.40 (5.00-15.05) mg/mL, p=0.0355). After 6 months of methotrexate treatment median CRP levels between genotypes reduced and remained similar. (ii) Results for rs1042522 genotyping: Indian patients had a higher frequency of the variant Arg-allele versus healthy Indian controls (42% versus 29%; OR=1.75, 95% CI=1.07-2.86, p=0.0275). In conclusion, patients with the MTHFR rs1801133 variant T-allele have elevated CRP levels, which can be ameliorated with methotrexate.

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来源期刊
Genetics and Molecular Biology
Genetics and Molecular Biology 生物-生化与分子生物学
CiteScore
4.20
自引率
4.80%
发文量
111
审稿时长
3 months
期刊介绍: Genetics and Molecular Biology (formerly named Revista Brasileira de Genética/Brazilian Journal of Genetics - ISSN 0100-8455) is published by the Sociedade Brasileira de Genética (Brazilian Society of Genetics). The Journal considers contributions that present the results of original research in genetics, evolution and related scientific disciplines. Manuscripts presenting methods and applications only, without an analysis of genetic data, will not be considered.
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