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rs1544410和rs7975232多态性及血清维生素D水平与银屑病易感性和严重程度的关联:埃及患者的病例对照研究

Association of rs1544410 and rs7975232 Polymorphisms and Serum Vitamin D Levels with Psoriasis Susceptibility and Severity: A Case-Control Study in Egyptian Patients.

作者信息

Mohamed Amal Ahmed, Elhussain Eman, Fawzy Naglaa, Sakr Yasser, Salah El-Dien Marwa, Abbas Abbas Mohammed, Hussein Maha S, Nassar Nourelhuda, Ezzat Omnia, El-Amir Reham Yousry, Ibrahim Sarah, Bedair Nermeen Ibrahim

机构信息

Department of Biochemistry and Molecular Biology, National Hepatology and Tropical Medicine Research institute, Cairo, Egypt.

Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Giza, Egypt.

出版信息

Clin Cosmet Investig Dermatol. 2022 Jul 7;15:1271-1281. doi: 10.2147/CCID.S364267. eCollection 2022.

Abstract

BACKGROUND

Vitamin D is a regulatory factor for skin immune functions through vitamin D receptor, which is expressed on many immune cells. Vitamin D receptor is located on chromosome 12q 13.11 and has many single nucleotide polymorphisms. Some of them were hypothesized to be associated with psoriasis. Psoriasis is a genetic disease that is greatly affected by environmental factors.

METHODS

A total of 135 psoriasis patients and 114 healthy controls were recruited. Both had a measurement of serum vitamin D and two vitamin D receptor variants:, rs1544410: G > A (HGVS:NC_000012.12:g.47846052) and rs7975232: C > A (HGVS: NC_000012.12:g.47845054). We assessed the relationship between vitamin deficiency as well as the two gene polymorphisms with psoriasis susceptibility and severity.

RESULTS

Serum vitamin D levels were not significantly different between cases and controls. However, a significant association between vitamin D levels and severity was observed. We attributed this to our finding that rs7975232 was more significantly polymorphic among cases than controls, while rs1544410 polymorphism did not show a significant difference among the 2 groups.

CONCLUSION

We did not find a significant difference in serum vitamin D levels between cases and controls. Yet, psoriasis severity was significantly associated with serum vitamin D levels. We attributed this to other findings that the vitamin D receptor rs7975232 gene is polymorphic in psoriasis patients. At the same time, rs1544410 was not significantly more polymorphic in psoriasis patients. Both genes' polymorphisms were associated with severe psoriasis.

摘要

背景

维生素D是一种通过维生素D受体调节皮肤免疫功能的因子,该受体在许多免疫细胞上表达。维生素D受体位于12号染色体q13.11上,有许多单核苷酸多态性。其中一些被认为与银屑病有关。银屑病是一种受环境因素影响很大的遗传性疾病。

方法

共招募了135例银屑病患者和114名健康对照者。对两者都进行了血清维生素D测量以及两种维生素D受体变体的检测:rs1544410:G>A(HGVS:NC_000012.12:g.47846052)和rs7975232:C>A(HGVS:NC_000012.12:g.47845054)。我们评估了维生素缺乏以及这两种基因多态性与银屑病易感性和严重程度之间的关系。

结果

病例组和对照组的血清维生素D水平无显著差异。然而,观察到维生素D水平与严重程度之间存在显著关联。我们将此归因于我们的发现,即rs7975232在病例组中的多态性比对照组更显著,而rs1544410多态性在两组之间未显示出显著差异。

结论

我们未发现病例组和对照组血清维生素D水平有显著差异。然而,银屑病严重程度与血清维生素D水平显著相关。我们将此归因于其他发现,即维生素D受体rs7975232基因在银屑病患者中具有多态性。同时,rs1544410在银屑病患者中的多态性并不显著。这两种基因的多态性均与重度银屑病有关。

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Clin Med (Lond). 2021 May;21(3):170-173. doi: 10.7861/clinmed.2021-0257.
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Optimisation of children z-score calculation based on new statistical techniques.基于新统计技术的儿童 Z 分数计算优化。
PLoS One. 2018 Dec 20;13(12):e0208362. doi: 10.1371/journal.pone.0208362. eCollection 2018.

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