Genetic variations in autoimmune genes and VKH disease
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REVIEW
Genetic variations in autoimmune genes and VKH disease Alia M. Albalawi . Maan A. Al-Barry
Received: 1 October 2019 / Accepted: 28 April 2020 Ó Springer Nature B.V. 2020
library, and Scopus was searched using combination of keywords. Results It was found that variants in HLA genes, IL12b, TNFSF4, and miR-20-5p genes are significantly associated with VKH; however, variants in genes ATG10, TNIP1 and CLEC16A did not achieve significant genome-wide association threshold. Moreover, polymorphisms in TNIP1 and CLEC16A play a protective role against VKH. Conclusion The authors conclude that increased sample size and a more homogeneous VKH patient population may reveal a significant association of variants in ATG10, TNIP1 and CLEC16A genes with VKH disease.
Abstract Purpose Vogt-Koyanagi-Harada (VKH) disease is a rare autoimmune disease. The autoimmune response in VKH disease is against the melanin-producing cells; therefore, in affected individuals melanocytecontaining organs manifest disease symptoms including eyes, ears, skin and nervous system. VKH is a multifactorial disease, and the precise cause of the VKH disease is unknown. Studies have suggested that both environmental and genetic factors are responsible for the VKH disease. In this review, the authors have collected all the available literature on the genetics of VKH to their knowledge and discussed the role of genetic variants in causing VKH disease. Methods An extensive literature search was performed in order to review all the published studies regarding VKH clinical phenotyping and genetic variants in VKH disease. Medline, PubMed, Cochrane
Keywords Autoimmune genes Association studies Gene variations Polymorphisms VKH disease
A. M. Albalawi Department of Biology, College of Science, King AbdulAziz University Jeddah, Jeddah, Saudi Arabia
Introduction
A. M. Albalawi Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarah, Medina, Saudi Arabia M. A. Al-Barry (&) Department of Ophthalmology, College of Medicine, Taibah University Almadinah Almunawwarah, Medina, Saudi Arabia e-mail: [email protected]
Vogt–Koyanagi–Harada (VKH) disease is a rare disorder of the immune system. It affects several parts of the body including the eyes, ears, nervous system and skin. The first characterisation of VKH was written in the twelfth century by an Arab physician, Mohammad-al-Ghaˆfiqıˆ. At the beginning of the twentieth century, a Swiss physician, Alfred Vogt, and Japanese researchers Yoshiz Koyanagi (1914) and
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Einosuke Harada (1926) named the disease. It is therefore called Vogt–Koyanagi–Harada and is now agreeable as a single disease with clinical variations [1]. The signs and symptoms of VKH disease appear due to the chronic inflammation of melanocytes. In this disorder, immune cells attack melanocytes. Melanocytes are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melani
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