Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction

@article{Ozaki2002FunctionalSI,
  title={Functional SNPs in the lymphotoxin-$\alpha$ gene that are associated with susceptibility to myocardial infarction},
  author={Kouichi Ozaki and Yozo Ohnishi and Aritoshi Iida and Akihiko Sekine and Ryo Yamada and Tatsuhiko Tsunoda and Hiroshi Sato and Hideyuki Sato and Masatsugu Hori and Yusuke Nakamura and Toshihiro Tanaka},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={650-654}
}
By means of a large-scale, case-control association study using 92,788 gene-based single-nucleotide polymorphism (SNP) markers, we identified a candidate locus on chromosome 6p21 associated with susceptibility to myocardial infarction. Subsequent linkage-disequilibrium (LD) mapping and analyses of haplotype structure showed significant associations between myocardial infarction and a single 50 kb halpotype comprised of five SNPs in LTA (encoding lymphotoxin-α), NFKBIL1 (encoding nuclear factor… 
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The finding that protective effects are linked with minor homozygous genotypes and haplotype 1 of the BAT1-NFKBIL1-LTA region in Europeans is opposite to the observation of associated risks in Japanese.
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It is suggested that TFAP2B might be a new candidate for conferring susceptibility to type 2 diabetes and contribute to the pathogenesis of type 2 Diabetes mellitus.
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