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土耳其人群中种系亚甲基四氢叶酸还原酶基因多态性与银屑病风险之间的可能关联。

Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population.

作者信息

Kilic S, Ozdemir O, Silan F, Isik S, Yildiz O, Karaagacli D, Silan C, Ogretmen Z

机构信息

Department of Dermatology, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.

Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.

出版信息

Clin Exp Dermatol. 2017 Jan;42(1):8-13. doi: 10.1111/ced.12909.

Abstract

BACKGROUND

Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association.

AIM

To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population.

METHODS

The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis. DNA was extracted from peripheral blood samples of patients and HCs, and real-time PCR was used for genotyping. Results were compared by Pearson χ² test and multiple logistic regression models.

RESULTS

The frequency of both the MTHFR 677TT and A1298C (homozygous) genotypes was statistically significantly different from HCs. Point mutations were detected in all patients with early-onset psoriasis (before the age of 20 years). The T allele of MTHFR 677 and the C allele of MTHFR 1298 increased psoriasis risk by 12.4- and 17.0-fold, respectively, in patients compared with HCs.

CONCLUSION

A possible association was detected betweengermline MTHFR 677 C>T and 1298 A>C genotypes and psoriasis risk in a Turkish population. These results need to be confirmed in further studies with larger sample sizes.

摘要

背景

银屑病是一种由遗传和表观遗传因素引起的常见慢性炎症性皮肤病。关于银屑病与亚甲基四氢叶酸还原酶基因(MTHFR)之间的关联,文献中的结果相互矛盾,从强连锁到无关联不等。

目的

在土耳其人群中研究种系MTHFR基因多态性C677T和A1298C与银屑病风险之间的关联。

方法

该研究纳入了84例银屑病患者和212名无银屑病病史的健康对照者(HCs)。从患者和HCs的外周血样本中提取DNA,并使用实时聚合酶链反应进行基因分型。通过Pearson卡方检验和多元逻辑回归模型比较结果。

结果

MTHFR 677TT和A1298C(纯合子)基因型的频率与HCs相比在统计学上有显著差异。在所有早发性银屑病患者(20岁之前)中均检测到点突变。与HCs相比,患者中MTHFR 677的T等位基因和MTHFR 1298的C等位基因分别使银屑病风险增加了12.4倍和17.0倍。

结论

在土耳其人群中,检测到种系MTHFR 677 C>T和1298 A>C基因型与银屑病风险之间可能存在关联。这些结果需要在更大样本量的进一步研究中得到证实。

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