Nuchnoi Pornlada, Ohashi Jun, Naka Izumi, Nacapunchai Duangporn, Tokunaga Katsushi, Nishida Nao, Patarapotikul Jintana
Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Department of Medical Technology, Faculty of Allied Health Science, Naresuan University, Phitsanulok, Thailand.
J Hum Genet. 2008;53(9):850-856. doi: 10.1007/s10038-008-0309-8. Epub 2008 Jun 24.
A number of loci related to the immune response are located on human chromosomal region 5q31-33, and polymorphisms in this region have been reported to be associated with autoimmune and infectious diseases. In Southeast Asian populations, no systematic survey with dense SNP markers has been performed for the 5q31-33 region. In this study, the LD and haplotype structures for a 472-kb region on 5q31 were investigated in a Thai population to provide useful information for association studies. In addition, the LD structure in Thais was compared with that of the CHB and JPT HapMap populations (CHB + JPT) to evaluate the transferability of tagging SNPs from CHB + JPT for Thais. We show that the minor allele frequency, pattern of LD block, and genetic structure in the 5q31-33 region were highly concordant between Thais and CHB + JPT. A high transferability of tagging SNPs from CHB + JPT for Thais was observed. Our results suggest that tagging SNPs from CHB + JPT (Northeast Asians) can efficiently capture common variants in Southeast Asians, and that the HapMap data are useful for association studies in Southeast Asian populations.
许多与免疫反应相关的基因座位于人类染色体5q31 - 33区域，据报道该区域的多态性与自身免疫性疾病和感染性疾病有关。在东南亚人群中，尚未对5q31 - 33区域进行过使用密集单核苷酸多态性（SNP）标记的系统调查。在本研究中，我们在泰国人群中调查了5q31上一个472 kb区域的连锁不平衡（LD）和单倍型结构，为关联研究提供有用信息。此外，将泰国人的LD结构与中国汉族（CHB）和日本东京（JPT）的国际人类基因组单体型图计划群体（CHB + JPT）的LD结构进行比较，以评估CHB + JPT群体的标签SNP对泰国人群的可转移性。我们发现，泰国人与CHB + JPT群体在5q31 - 33区域的次要等位基因频率、LD块模式和遗传结构高度一致。观察到CHB + JPT群体中的标签SNP对泰国人群具有较高的可转移性。我们的结果表明，来自CHB + JPT群体（东北亚人群）的标签SNP能够有效地捕获东南亚人群中的常见变异，并且国际人类基因组单体型图计划数据对东南亚人群的关联研究很有用。
