Presentation Information
[PE2-5]Genome wide association study of quantitative traits in a Japanese population
○Motoki Furutani1,2, Takashi Morizono1,3, Risa Mitsumori1, Aya Kuretani1, Yukiko Nakano2, Shumpei Niida4, Daichi Shigemizu1,3, Kouich Ozaki1,2,3 (1.Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Aichi, Japan, 2.Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, 3.RIKEN Center for integrative Medical Science, Yokohama, Japan, 4.Core Facility Administration, Research Institute, National Center for Geriatrics and Gerontology)
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.