Evaluation of microsatellite markers in association studies: a search for an immune-related susceptibility gene in sarcoidosis |
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Authors: | Goh Tanaka Ikumi Matsushita Jun Ohashi Naoyuki Tsuchiya Soichiro Ikushima Masaru Oritsu Minako Hijikata Taiji Nagata Kazuhiko Yamamoto Katsushi Tokunaga Naoto Keicho |
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Institution: | (1) Department of Respiratory Diseases, Research Institute, International Medical Center of Japan, Tokyo 162-8655, Japan;(2) Department of Respiratory Diseases, University of Tokyo, Tokyo 113-8655, Japan;(3) Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113-8655, Japan;(4) Department of Respiratory Diseases, Japanese Red Cross Medical Center, Tokyo 150-8935, Japan;(5) Department of Allergy and Rheumatology, University of Tokyo, Tokyo 113-8655, Japan |
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Abstract: | Association studies using linkage disequilibrium (LD) between candidate loci and nearby markers have been proposed to identify susceptibility genes for complex diseases. We analyzed polymorphisms of microsatellites (MSs) and LD patterns of the regions in which candidate genes related to the Th1 immune response have been annotated and attempted to identify a susceptibility gene for sarcoidosis in a marker-based association study. Nineteen MSs were identified in six Th1-related genes (IFNGR1, IFNGR2, IL12RB1, IL12RB2, STAT1 and STAT4) and then eight were further characterized as useful polymorphic markers. Most of these MSs showed LD with single nucleotide polymorphisms (SNPs) on both 5 and 3 ends of these candidate genes, in which r2 values between at least one of the MS marker alleles and the SNPs were higher than 0.1. A significant association with one MS allele near STAT4 was shown and a cluster of SNPs in LD with the MS marker was associated with sarcoidosis. These results suggest that association studies using not only SNPs but also multi-allelic MS within or near candidate loci would be useful markers to search for a disease susceptibility gene, especially in populations with unknown LD structure. |
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Keywords: | Linkage disequilibrium Microsatellite Single nucleotide polymorphism Association study Sarcoidosis STAT4 |
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