講演情報
[PE2-5]日本人集団におけるQTL解析
○古谷 元樹1,2, 森園 隆1,3, 光森 理紗1, 呉谷 文1, 中野 由紀子2, 新飯田 俊平4, 重水 大智1,3, 尾崎 浩一1,2,3 (1.長寿医療研究センター メディカルゲノムセンター, 2.広島大学 循環器内科, 3.理化学研究所 生命医科学研究センター, 4.長寿医療研究センター 研究推進基盤センター)
General blood test is most used for diagnosis and monitoring of diseases. Understanding the genetic architecture of quantitative traits could provide the clue to elucidate the mechanism of human diseases. Genome wide association studies (GWAS) have been successfully employed to identify various quantitative traits. Here, we conducted a GWAS of 53 quantitative traits using ethnicity-specific genotyping array (Asia screening array), with approximately 12,000 Japanese individuals (3340 Alzheimer’s diseases, 1981 mild cognitive impairment, 354 dementia with Lewy bodies, and cognitive normal), registered in the National Center for Geriatrics and Gerontology (NCGG) Biobank. The 53 quantitative traits contain uncommon clinical laboratory measurements such as folic acid, homocysteine, vitamin B1, vitamin B12, vitamin D, Cystatin C and type1 collagen cross-linked N-telopeptide (NTx) which are less commonly reported previously in Japanes. We identified not only a locus located on nearby MTHFR known trait loci associated with homocysteine at genome-wide significance level (P = 5.0×10-8), but also novel loci located on Chromosome3 associated with vitamin D and chromosome 10 associated with type1 collagen cross-linked N-telopeptide (NTx) at suggestive genome-wide significance level (P = 1.0×10-6). Our findings contribute to provide insights into the etiology and pathology of common diseases including dementia.