{"id":"hum0042","version":1,"url":"https://humandbs.dbcls.jp/research/hum0042/v1","datePublished":"2016-03-02","versions":[{"version":1,"datePublished":"2016-03-02"}],"title":{"ja":"顎口腔領域の形質（性質や特徴）に関与する遺伝子の探索","en":"Genome analysis for elucidation of genetic factors in orofacial traits and diseases"},"summary":{"aims":{"ja":"東アジア人集団（日本人および韓国人）における、1．変性顎関節症 および 2．第三大臼歯先天性欠如（親不知） の感受性遺伝子の同定","en":"To identify susceptibility genes associated with degenerative bony changes of the temporomandibular joint (TMJ) and third molar agenesis."},"methods":{"ja":"Illumina HumanOmniExpress BeadChipを用いて遺伝子型を決定","en":"Illumina HumanOmniExpress BeadChip was used for genotyping."},"targets":{"ja":"1．日本人と韓国人の変性顎関節症（degenerative bony changes of the temporomandibular joint：TMJ）罹患者146名と非罹患者（non-TMJ）374名\n2．日本人と韓国人の、少なくても1本の第三大臼歯先天性欠如を有する149症例と欠如のない338名","en":"(1) 146 cases with TMJ and 374 controls (non-TMJ) in the Japanese and Korean populations\n(2) 149 cases with at least one-third molar agenesis and 338 controls in the Japanese and Korean populations"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"ゲノムワイド関連","en":"Genome-wide association"},"targets":{"ja":"変性顎関節症：146症例\n非罹患：374名\n第三大臼歯先天性欠如有：149症例\n無欠如：338名\n（日本人、韓国人）","en":"146 TMJ and 374 controls\n149 third molar agenesis and 338 controls\n(Japanese, Korean)"},"typeOfData":{"ja":"SNP-chip","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"1：変性顎関節症罹患者146症例と非罹患者374名に対してIllumina HumanOmniExpress BeadChipを用いて遺伝子型決定を行ない、各遺伝子型カウントと統計解析結果を提供する（日本人、韓国人それぞれの集団内の解析および両群のメタ解析結果）。\n2：下顎に一本以上の第三大臼歯先天性欠如\n・有り（日本人40症例、韓国人40症例）と無し（日本人224名、韓国人183名）\n・上顎に一本以上の第三大臼歯先天性欠如有り（日本人62症例、韓国人63症例）と無し（日本人202名、韓国人160名）\n・上下何れかに一本以上の第三大臼歯先天性欠如有り（日本人78症例、韓国人71症例）と無し（日本人186名、韓国人152名）\nに対してIllumina HumanOmniExpress Beadchipを用いて遺伝子型決定を行ない、各遺伝子型カウントと統計解析結果を提供する（日本人、韓国人それぞれの集団内の解析および両群のメタ解析結果）。","en":"(1) A genome-wide association study for TMJ was performed using 550,005 SNPs (Japanese) and 545,797 SNPs (Korean) (Illumina HumanOmniExpress Beadchip).\n(2) Genome-wide association studies for each category of third molar agenesis were performed by using of Illumina HumanOmniExpress Beadchip.\n(2-1) mandibular third molar agenesis\nwith third molar agenesis (40 Japanese cases, 40 Korean cases)\nwithout third molar agenesis (224 Japanese controls, 183 Korean controls)\n(2-2) maxillary third molar agenesis\nwith third molar agenesis (62 Japanese cases, 63 Korean cases)\nwithout third molar agenesis (202 Japanese controls, 160 Korean controls)\n(2-3) at least one-third molar agenesis\nwith third molar agenesis (78 Japanese cases, 71 Korean cases)\nwithout third molar agenesis (186 Japanese controls, 152 Korean controls)\nLists of genotype counts for each polymorphism and results of statistics in each population are provided (xlsx file format)."},"dataProviders":[{"name":{"ja":"山口 徹太郎","en":"Tetsutarou Yamaguchi"},"organization":{"name":{"ja":"昭和大学歯学部歯科矯正学講座","en":"Showa University School of Dentistry"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ゲノム科学の総合的推進に向けた大規模ゲノム情報生産・高度情報解析支援","en":"Genome Science"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"Ministry of Education, Culture, Sports, Science and Technology (MEXT) KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["221S0002"]}],"relatedPublications":[{"title":"Genome-wide association study of degenerative bony changes of the temporomandibular joint.","doi":"https://doi.org/10.1111/odi.12141","datasets":["NHA000048"]},{"title":"A genome-wide association study of third molar agenesis in Japanese and Korean populations.","doi":"https://doi.org/10.1038/jhg.2013.106","datasets":["NHA000047"]}],"datasets":["NHA000048","NHA000047"],"controlledAccessUsers":[]}