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Evaluation of microsatellite markers in association studies: a search for an immune-related susceptibility gene in sarcoidosis

Content Provider	Springer Nature Link
Author	Tanaka, Goh Matsushita, Ikumi Ohashi, Jun Tsuchiya, Naoyuki Ikushima, Soichiro Oritsu, Masaru Hijikata, Minako Nagata, Taiji Yamamoto, Kazuhiko Tokunaga, Katsushi Keicho, Naoto
Copyright Year	2005
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.
Starting Page	861
Ending Page	870
Page Count	10
File Format	PDF
ISSN	00937711
Journal	Immunogenetics
Volume Number	56
Issue Number	12
e-ISSN	14321211
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-01-27
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Linkage disequilibrium Microsatellite Single nucleotide polymorphism Association study Sarcoidosis STAT4
Content Type	Text
Resource Type	Article
Subject	Genetics Immunology

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