The Tohoku journal of experimental medicine
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Tohoku J. Exp. Med. · Oct 2014
Review Case ReportsA Japanese patient with Löfgren's syndrome with an HLA-DR12 allele and review of literature on Japanese patients.
Sarcoidosis is a granulomatous disorder of unknown etiology, with several clinical manifestations. Löfgren's syndrome is an acute type of sarcoidosis, characterized by the triad of arthritis, erythema nodosum, and bilateral hilar lymphadenopathy (BHL), which spontaneously resolve within about 2 years. Löfgren's syndrome is common among young white women from Nordic countries and Ireland, but it is very rare in Japan. ⋯ The relevant data were unavailable in the remaining three patients. Importantly, only 5.4% of registered donors in the Japan Marrow Donor Program are positive for this allele. We suggest the potential link between HLA-DR12 and the pathogenesis of Löfgren's syndrome in Japanese patients.
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Tohoku J. Exp. Med. · Oct 2014
ReviewThe Glu504Lys polymorphism of aldehyde dehydrogenase 2 contributes to development of coronary artery disease.
Coronary artery disease (CAD) is a leading cause of death, and its genetic mechanism has been always a major research concern. Recently, increasing evidence has indicated that the aldehyde dehydrogenase 2 (ALDH2) polymorphism, known as Glu504Lys (rs671), may contribute to CAD development. ALDH2 has been well known as a key enzyme in alcohol metabolism, and subjects with *504Lys allele exist in 30-50% of the East Asian population (6% of the world's population). ⋯ Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated with certain traditional cardiovascular risk factors, such as dyslipidemia, hypertension, and diabetes mellitus or hyperglycemia. In this review, we update the current research on the association of the Glu504Lys polymorphism with the susceptibility to CAD. We also highlight and discuss the underlying mechanisms, by which the ALDH2 Glu504Lys polymorphism may be targeted for the prevention and treatment of CAD.