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亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与银屑病

MTHFR (methylenetetrahydrofolate reductase) C677T polymorphism and psoriasis.

作者信息

Vasku Vladimir, Bienertova-Vasku Julie, Necas Miroslav, Vasku Anna

机构信息

1st Department of Dermatology, St. Ann's Faculty Hospital, Masaryk University Brno, Pekarská 53, 656 91, Brno, Czech Republic.

出版信息

Clin Exp Med. 2009 Dec;9(4):327-31. doi: 10.1007/s10238-009-0054-0. Epub 2009 May 30.

Abstract

The aim of the study was to evaluate possible association of MTHFR C677T gene polymorphism (NM_005957) with psoriasis. Genotypes of MTHFR C677T gene polymorphism were determined in a sample of 654 Caucasian (Czech) subjects. Case group (n = 410) included patients with psoriasis (plaque psoriasis diagnosed in 285 patients, other subtypes of psoriasis were observed in 125 patients). Control group (n = 244) consisted of healthy subjects without individual history of psoriasis, with similar age and gender characteristics. The MTHFR C677T polymorphism genotypes were determined by a polymerase chain reaction and a subsequent restriction analysis with HinfI. The genotypes of C(677)T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism were determined in a sample of 654 Caucasian (Czech) subjects. We proved a significant difference in genotype distribution (P(g) = 0.03) and allelic frequency (P(a) = 0.02) between psoriatic and control subjects (Table 3). The CC (the thermostabile) genotype was significantly more frequent in psoriatic patients compared to controls [OR = 1.55, 95% confidential interval (CI) = 1.12-2.15, P = 0.004814, P(corr) = 0.01]. But, a significant increase of T allele in MTHFR gene was observed in patients with positive family history of diabetes (P(a) = 0.02) and in those with a frequent tonsillitis/tonsillectomy (P(a) = 0.04). No difference was observed between patients with and without positive family history of psoriasis (P(a) = 0.251). But, when psoriatic patients were described for FHDM, FH-Ps, and PH-T simultaneously, The highest incidence of CT + TT genotypes was calculated for psoriasis patients with positive history of psoriasis and diabetes mellitus together with personal history of repeated tonsillitis/tonsillectomy compared to patients without all these three phenotypes (odds ratio = 3.17, 95% CI 1.33-7.56, P(corr) = 0.04). In conclusion, MTHFR C677T polymorphism is marginally associated with psoriasis. The T allele (thermolabile) appears to be more frequent in psoriasis patients with positive history of psoriasis and diabetes mellitus together with personal history of repeated tonsillitis/tonsillectomy. This could reflect an inborn predisposition in complex regulation in one-carbon moieties transport in psoriatic patients and therefore, MTHFR genotype can be a part of genetic background of psoriasis.

摘要

本研究的目的是评估亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性(NM_005957)与银屑病之间可能存在的关联。在654名高加索(捷克)受试者样本中测定了MTHFR C677T基因多态性的基因型。病例组(n = 410)包括银屑病患者(285例诊断为斑块状银屑病,125例观察到其他银屑病亚型)。对照组(n = 244)由无银屑病个人病史、年龄和性别特征相似的健康受试者组成。通过聚合酶链反应和随后的HinfI酶切分析确定MTHFR C677T多态性的基因型。在654名高加索(捷克)受试者样本中测定了C(677)T亚甲基四氢叶酸还原酶(MTHFR)基因多态性的基因型。我们证实银屑病患者与对照组之间在基因型分布(P(g)=0.03)和等位基因频率(P(a)=0.02)上存在显著差异(表3)。与对照组相比,CC(热稳定)基因型在银屑病患者中显著更常见[比值比(OR)=1.55,95%置信区间(CI)=1.12 - 2.15,P = 0.004814,校正后P = 0.01]。但是,在有糖尿病家族史阳性的患者(P(a)=0.02)和有频繁扁桃体炎/扁桃体切除术史的患者(P(a)=0.04)中观察到MTHFR基因中T等位基因显著增加。银屑病家族史阳性和阴性的患者之间未观察到差异(P(a)=0.251)。但是,当同时描述银屑病患者的家族性高血糖糖尿病(FHDM)、家族性银屑病(FH-Ps)和复发性扁桃体炎/扁桃体切除术(PH-T)时,与无所有这三种表型的患者相比,有银屑病和糖尿病家族史以及复发性扁桃体炎/扁桃体切除术个人史的银屑病患者中CT + TT基因型的发生率最高(比值比 = 3.17,95% CI 1.33 - 7.56,校正后P = 0.04)。总之,MTHFR C677T多态性与银屑病存在一定关联。T等位基因(热不稳定)在有银屑病和糖尿病家族史以及复发性扁桃体炎/扁桃体切除术个人史的银屑病患者中似乎更常见。这可能反映了银屑病患者在一碳基团转运复杂调节中的先天性易感性,因此,MTHFR基因型可能是银屑病遗传背景的一部分。

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