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Systemic sclerosis (SSc) is a rare disease with a prevalence ranging from 7 to 700 cases per million. Like with most autoimmune diseases, both environmental and genetic factors are involved in the pathogenesis of the SSc. Though the incidence of SSc in the family members of those affected and the concordance rate in twins is very low, inheritance is still the strongest risk factor of SSc. Thus, multiple studies have been conducted to identify the genes responsible for this inheritance including candidate gene association studies and genome-wide analyses. Variations and mutations in the genes encoding cytokines, adhesion molecules, and signaling proteins involved in the interaction between endothelial cells, fibroblasts, and immune cells have been found to be associated with SSc susceptibility. In this chapter, these genes and their contribution to the pathogenesis of the SSc are discussed in detail. These genes are categorized into five major groups of HLA genes, genes involved in the innate immune responses, genes affecting adaptive immune responses, genes with a role in the fibrogenesis pathways, and apoptosis, autophagy, and pyroptosis-related genes., (© 2022. Springer Nature Switzerland AG.)

Behcet's disease (BD) is an autoimmune disorder that affects the blood vessels and thus could entangle virtually every organ of the body. Oral ulceration, genital aphthous lesions, and ocular inflammation are the main manifestations of the disease that tend to have a chronic, relapsing-remitting course. The disease comes from an association between environmental and genetic backgrounds. The clustering of cases in families and the high rate of co-occurrence of the disease in siblings were the initial findings that proposed a genetic basis for BD. Later on, multiple case-control studies and genome-wide association studies were able to clarify particular genes included in the etiopathogenesis of BD. The major gene polymorphisms include HLA and HLA-related genes, interleukins, and other genes involved in inflammation and transcription activation. Herein we have summarized the susceptibility genes that are associated with BD. Investigations on the genetics of BD could potentially clarify the disease pathogenesis and provide insights for the development of better treatments., (© 2022. Springer Nature Switzerland AG.)

Lupus erythematosus (LE) is a heterogeneous disease with a wide range of manifestations ranging from localized lesions in cutaneous lupus erythematosus (CLE) to severe disseminated disease in systemic lupus erythematosus (SLE).Lupus results from a complex interaction between genetic and epigenetic backgrounds and environmental triggers that cause loss of tolerance to self-antigens and the formation of autoantibodies. Genetic susceptibility plays a key role in the pathogenesis of lupus erythematosus. In most cases, multiple common alleles with modest effect sizes are combined to result in the polygenic inheritance of the disease but monogenic variants of lupus have also been described. Genes from the innate and adaptive immune system along with genes involved in apoptosis and immunoglobulin clearance have been linked to SLE. This chapter aims to explore the functions of these genes and their contribution to the pathogenesis of the disease., (© 2022. Springer Nature Switzerland AG.)

Non-infectious granulomatous skin diseases are a wide category of well-defined reactive inflammatory conditions that share main similarities. While cutaneous sarcoidosis is the prototype of non-infectious (sterile) granulomatous dermatitides, there are several other entities in this group including granuloma annulare and necrobiosis lipoidica. Non-infectious granulomatous diseases are caused by complex associations between genetic situations and environmental triggers resulting in a variety of cutaneous and systemic manifestations. The genetic backgrounds of these diseases are the main topic of this manuscript., (© 2022. Springer Nature Switzerland AG.)