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Background: Recent clinical studies suggest that the pathogenetic mechanisms of vitiligo could be of systemic origin as vitiligo is associated with auditory abnormalities as well as other autoimmune disorders., Objectives: To investigate clinical, genetic characteristics and laboratory findings of vitiligo as well as auditory abnormalities and the association of the disease with the other autoimmune disorders., Materials and Methods: From January to December 2008, we collected-data from 80 vitiligo patients to establish the clinical and epidemiological profile of vitiligo in Turkey., Results: Thirty patients were men and 50 were women, with a mean age of 37 years and a mean onset age of 10 years. Vitiligo vulgaris was the most common type, followed by focal, acrofacial, segmental and universal types. Forty-four (55%) patients had an associated autoimmune disease. These associated diseases were Hashimoto thyroiditis in 25, alopecia areata in 10, pernicious anaemia in seven and diabetes mellitus in two patients. Statistically significant changes in human leukocyte antigen in patients with vitiligo were HLA A24,-30, B63, CW6, DR15, DR51, DQ5,-6. Auditory problems were observed in 37.7% patients. Nine of the 20 patients showed unilateral minimal hearing loss (>30 dB), while the other 11 demonstrated bilateral hearing loss (>30 dB) over a large range of frequencies (2000-8000 Hz)., Conclusion: Our study demonstrates that vitiligo is a part of systemic autoimmune process. Audiological examination should be performed in all patients for auditory problems which are commonly presented as hypoacusis., (© 2010 The Authors. Journal of the European Academy of Dermatology and Venereology © 2010 European Academy of Dermatology and Venereology.)

Objective: In the era of genome-wide association studies, familial risks are used to estimate disease heritability and the likelihood of candidate-gene identification. This study was undertaken to estimate associations of rheumatoid arthritis (RA) with any of 33 autoimmune diseases and related conditions among parents and offspring, singleton siblings, twins, and spouses., Methods: The Multigeneration Register in Sweden was used as a reliable source of information on Swedish families throughout the last century. Data on autoimmune diseases in individual family members were obtained through linkage to the Hospital Discharge Register. The standardized incidence ratio (SIR) was calculated as a measure of the relative risk of RA in family members of patients with RA or any of 33 other autoimmune diseases or related conditions, as compared with the relative risk of RA in those lacking an affected family member., Results: Among a total of 447,704 patients, 47,361 were diagnosed as having RA. The SIRs for RA were 3.02 in offspring of affected parents, 4.64 in siblings, 9.31 in multiplex families, 6.48 in twins, and 1.17 in spouses. Significant associations with the familial risk of RA in offspring according to parental proband were observed for ankylosing spondylitis (SIR 2.96), localized scleroderma (SIR 2.40), Sjögren's syndrome (SIR 2.25), systemic lupus erythematosus (SIR 2.13), systemic sclerosis (SIR 1.65), Hashimoto thyroiditis/hypothyroidism (SIR 1.54), pernicious anemia (SIR 1.53), sarcoidosis (SIR 1.40), psoriasis (SIR 1.36), Wegener's granulomatosis (SIR 1.34), and asthma or polymyalgia rheumatica (SIR 1.32)., Conclusion: This is the first study to compare the familial risks of RA in relation to a large number of autoimmune diseases and related conditions using data from a single population. The high discordant familial risks in this population suggest that there is extensive genetic sharing between RA and the associated diseases.

The autoimmune thyroid diseases (AITD) include Graves' disease (GD) which manifests in hyperthyroidism and Hashimoto's thyroiditis (HT), manifesting as hypothyroidism. Genetic susceptibility in combination with external factors (e.g. dietary iodine) are believed to initiate the autoimmune response to thyroid antigens in AITD. Indeed, there is solid epidemiological data to support a strong genetic influence on the etiology of AITD including family and twin studies. Recently, there has been significant progress toward the identification of the AITD susceptibility genes. Several loci (genetic regions) that are linked with AITD have been mapped and in some of these loci putative AITD susceptibility genes have been identified. Some of these loci predispose to a single phenotype (GD or HT), while other loci are common to both diseases, indicating that there is a shared genetic susceptibility to GD and HT. The putative GD and HT susceptibility genes include both immune modifying genes (e.g. HLA, CTLA-4) and thyroid specific genes (e.g. TSHR, Tg) and it is likely that the final disease phenotype is a result of an interaction between these loci, as well as environmental influences.