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分析印度银屑病患者的 CARD14 基因表达情况。

Profiling CARD14 gene expression in Indian Psoriasis patients.

机构信息

ICMR-National Institute of Pathology, New Delhi, 110029, India.

Bioinformatics Centralized Core Research Facility-AIIMS, New Delhi, 110029, India.

出版信息

Sci Rep. 2024 Nov 20;14(1):28798. doi: 10.1038/s41598-024-78267-9.

Abstract

Several Genome Wide linkage Studies on psoriasis performed to gain insight of genetic architecture of the disease. Caspase Recruitment Domain-containing family 14 (CARD14) also known as CARMA2 or BIMP2; cytogenic location: 17q25.3, is a scaffold protein that primarily controls the skin epidermis's nuclear factor kB (NF-kB) signaling pathway activity in skin epidermis, a master gene for inflammation, has been shown to be linked with rare, heritable form of psoriasis. CARD14 is predominantly expressed in keratinocytes and epithelial cells, but also in unidentified dermal cells. For better understanding of molecular processes involved in CARD14 underlying Indian psoriatic patients, we analyzed gene expression of 42 moderates to severe cases of plaque psoriasis and same number of controls using qPCR and its validation through Immunohistochemistry (IHC). This study identifies that the expression of CARD14 in dermal endothelial cells among patients with psoriasis and explores the potential functional consequences associated with an overactive CARD14 gene. Furthermore, the expression data from the western population was consistent with the results of the qPCR validation of the candidate gene. There is a significant correlation between Indian psoriasis vulgaris patients and CARD14 up-regulation, as evidenced by a roughly two-fold shift in lesional tissue expression. This provides insights into the pathways and genes linked to the pathogenesis of psoriasis.

摘要

已经进行了几项全基因组连锁研究,以深入了解银屑病的遗传结构。半胱氨酸天冬氨酸蛋白酶募集结构域家族 14(CARD14)也称为 CARMA2 或 BIMP2;染色体位置:17q25.3,是一种支架蛋白,主要控制皮肤表皮的核因子 kB(NF-kB)信号通路活性,是炎症的主基因,已被证明与罕见的、可遗传形式的银屑病有关。CARD14 主要在角质形成细胞和上皮细胞中表达,但也在未鉴定的真皮细胞中表达。为了更好地理解 CARD14 在印度银屑病患者中的分子过程,我们使用 qPCR 分析了 42 例中度至重度斑块状银屑病患者和相同数量的对照者的基因表达,并通过免疫组织化学(IHC)进行了验证。这项研究确定了 CARD14 在银屑病患者真皮内皮细胞中的表达,并探讨了与 CARD14 基因过度活跃相关的潜在功能后果。此外,来自西方人群的数据与候选基因的 qPCR 验证结果一致。印度寻常型银屑病患者存在 CARD14 上调的显著相关性,病变组织表达的大约两倍变化证明了这一点。这为了解与银屑病发病机制相关的途径和基因提供了线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae61/11579362/77dff5ed67bf/41598_2024_78267_Fig1_HTML.jpg

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