Iida Aritoshi, Ozaki Kouichi, Tanaka Toshihiro, Nakamura Yusuke
Laboratory for Pharmacogenetics, Research Group of Personalized Medicine, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi, Yokohama, Kanagawa, 230-0045, Japan.
Laboratory for Cardiovascular Diseases, RIKEN SNP Research Center, c/o Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
J Hum Genet. 2005;50(1):42-45. doi: 10.1007/s10038-004-0218-4. Epub 2004 Dec 10.
Galectins, a family of animal lectins that bind beta-galactoside sugar chains, are thought to have a variety of intra- and extracellular functions. Through a case-control study in the Japanese population and subsequent functional analyses, we previously showed that a functional single nucleotide polymorphism (SNP) in the gene encoding galectin-2 (lectin, galactoside-binding, soluble, 2; LGALS2) is associated with susceptibility to myocardial infarction. As an addition to the genetic information about LGALS2 reported earlier, we provide here a map of polymorphic sites within an 11-kb region containing the gene encoding a closely related molecule, galectin-1 (lectin, galactoside-binding, soluble, 1; LGALS1). The map includes 14 SNPs and two genetic variations of other types detected in a Japanese population sample. Five of the 14 SNPs were not among those deposited in the dbSNP database in the US National Center for Biotechnology Information and appeared to be novel. We also analyzed linkage disequilibrium (LD) using the 12 SNPs in which minor-allele frequencies were >0.20. Investigation of haplotype structure within the LGALS1 locus revealed five common haplotypes covering more than 95% of the test population. One, or a pair, of the SNPs described here might serve as a "tag" for detecting associations between complex diseases and genes in this local segment of chromosome 22q13.1.
半乳糖凝集素是一类能结合β-半乳糖苷糖链的动物凝集素,被认为具有多种细胞内和细胞外功能。通过对日本人群的病例对照研究及后续功能分析,我们先前发现编码半乳糖凝集素-2(凝集素,半乳糖苷结合,可溶性,2;LGALS2)的基因中的一个功能性单核苷酸多态性(SNP)与心肌梗死易感性相关。作为对先前报道的关于LGALS2遗传信息的补充,我们在此提供了一个包含编码密切相关分子半乳糖凝集素-1(凝集素,半乳糖苷结合,可溶性,1;LGALS1)基因的11kb区域内的多态性位点图谱。该图谱包括在日本人群样本中检测到的14个SNP和其他类型的两个遗传变异。14个SNP中的5个不在美国国立生物技术信息中心的dbSNP数据库中所存的SNP之列,似乎是新发现的。我们还使用次要等位基因频率>0.20的12个SNP分析了连锁不平衡(LD)。对LGALS1基因座内单倍型结构的研究揭示了覆盖超过95%测试人群的5种常见单倍型。这里描述的一个或一对SNP可能作为一个“标签”,用于检测22q13.1染色体这一局部区域中复杂疾病与基因之间的关联。