Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul, Korea.
J Hum Genet. 2010 Oct;55(10):681-90. doi: 10.1038/jhg.2010.88. Epub 2010 Jul 29.
To identify genetic factors that influence height in infancy/early childhood, a family-based genome-wide association study was conducted using 269,888 single-nucleotide polymorphisms (SNPs) in 165 families composed of a Korean father, a Vietnamese mother and Vietnamese-Korean offspring in the International Marriage-based Immigrant Cohort in Korea. In a single-SNP-based analysis, the six SNPs in or near genes MAF, MAGI2, BMP4 and PTPN7 showed consistent suggestive associations at all height standard deviation scores using Korean, World Health Organization and Vietnamese growth references. Analyzing the haplotypes for the genes, haplotype blocks were found to be significantly associated with height. Similar to the results of a contiguous haplotype analysis using tag SNPs as above, noncontiguous haplotypes of variable length also showed a significant association near the suspected loci. Our result suggests that height during infancy/early childhood may be regulated by genetic variations that differ from those of adults.
为了鉴定影响婴儿期/幼儿期身高的遗传因素，对由韩国父亲、越南母亲和越裔韩裔后代组成的 165 个韩裔家庭，利用 269888 个单核苷酸多态性（SNP），进行了一项基于家系的全基因组关联研究。在基于单 SNP 的分析中，使用韩国、世界卫生组织和越南生长参考值，在所有身高标准差评分中，MAF、MAGI2、BMP4 和 PTPN7 基因内或附近的 6 个 SNP 显示出一致的提示关联。对基因的单体型进行分析，发现单体型块与身高显著相关。与使用上述标记 SNP 进行连续单体型分析的结果相似，可变长度的非连续单体型也在可疑部位附近显示出显著关联。我们的结果表明，婴儿期/幼儿期的身高可能受到与成人不同的遗传变异的调控。
