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Current aspects of vitiligo genetics.

ABSTRACT: Vitiligo is a common acquired depigmentation disorder of the skin manifested by the presence of white macules. The disease occurs at a frequency of approximately 1-4% of the world population. Currently, the most popular theory of vitiligo development is a multifactorial hypothesis according to which genetic conditions predispose vitiligo macules to occur as a result of specific environmental factors. According to the genetic hypothesis, vitiligo inheritance is multigenic. Genetic studies conducted so far concern patients with non-segmental vitiligo. There are three basic techniques of genetic studies: candidate gene association studies, genomewide linkage studies and genome-wide association studies (GWAS). The GWAS are the "gold standard" for detecting susceptibility genes. Up to now, approximately 36 convincing non-segmental vitiligo susceptibility loci have been identified. Approximately 90% of them encode immunoregulatory proteins, while approximately 10% encode melanocyte proteins. The existence of various associations between vitiligo and other autoimmune diseases may provide new knowledge on the causes of many disorders. Examples include the inverse relationship between vitiligo and melanoma and association of vitiligo with other autoimmune diseases. The main goal of all researches is to find new, optimal therapeutic strategies for vitiligo and other autoimmune diseases.

SUBMITTER: Czajkowski R

PROVIDER: S-EPMC4171675 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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Current aspects of vitiligo genetics.

Czajkowski Rafał R Męcińska-Jundziłł Kaja K

Postepy dermatologii i alergologii 20140822 4

Vitiligo is a common acquired depigmentation disorder of the skin manifested by the presence of white macules. The disease occurs at a frequency of approximately 1-4% of the world population. Currently, the most popular theory of vitiligo development is a multifactorial hypothesis according to which genetic conditions predispose vitiligo macules to occur as a result of specific environmental factors. According to the genetic hypothesis, vitiligo inheritance is multigenic. Genetic studies conduct ...[more]

PMID: 25254010

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Project description:Due to its prevalence and its health-related, economic and social consequences, childhood and adult obesity is a complex, medical and civilizational problem, which has been on the increase in the last decade. The results of multi-center investigations reveal that genetic factors play an essential role in the etiopathogenesis of obesity, particularly in the case of extreme cases with very early onset. The Body Mass Index (BMI) is one of the most frequently used indicators of obesity and shows a strong genetic component with a 40-70% degree of heritability. The three types of genetically conditioned obesity are: (1) isolated (nonsyndromic) monogenic obesity, (2) syndromic monogenic obesity associated with dysmorphic features and/or congenital defects, caused by mutations in specific gene(s), (3) chromosomal aberrations, including submicroscopic changes. The most prevalent common (complex) obesity is linked to the presence of various changes in different genomic loci, which are subject to interactions and modifications by environmental (ethnic, dietary, lifestyle, bacterial flora, oxidative stress), as well as epigenetic (i.e., associated with DNA methylation, histone modification) and epistatic (gene-gene interaction) factors. Recent investigations using the modern methods of genome-wide association studies (GWAS), bioinformatics and proteomics, have made it possible to elucidate 8 key genes among the 97 genes most likely to play significant roles in the metabolic effects of obesity. The results of investigations on the pathogenesis of complex obesity do not as yet clarify the potential pathogenic significance of these genomic changes in humans. This article discusses the neuro-endocrinological regulation of the sensation of hunger and thirst, the clinical consequences of mutations in genes associated with the melanocortin pathway, and the features of the most common obesity syndromes, including syndromes conditioned by genomic imprinting. A diagnostic algorithm for cases of suspected syndromic obesity is proposed.

Dataset Information

Current aspects of vitiligo genetics.

Publications

Current aspects of vitiligo genetics.

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