Identification of genes associated with differences in facial morphology among individuals and between populations

• Project/Area Number: 20770196
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Physical anthropology
• Research Institution: University of the Ryukyus
• Principal Investigator: KIMURA Ryosuke University of the Ryukyus, 亜熱帯島嶼科学超域研究推進機構, 特命准教授 (00453712)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2008: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
• Keywords: 分子 / 遺伝 / 人類学 / ゲノム / 形態

Research Abstract

It is supposed that a number of genetic polymorphisms are associated with the variation in human facial morphology. However, they are still unidentified. In this project, to reveal such genes, 1) anthropometric measurements mainly in craniofacial morphology were performed, 2) based on population genetics analyses, candidate genes were selected from the genes known to be involved in morphogenesis, and then 3) association studies between phenotypes and genotypes were carried out. In several genes such as EDAR, associations with craniofacial morphology including tooth shape were identified.

Research Products

• [Journal Article] The HUGO Pan-Asian SNP Consortium Mapping Human Genetic Diversity in Asia (2009)
  • Journal Title: Science 326 Pages: 1541-1545
  • Peer Reviewed
• [Journal Article] A common variation in EDAR is a genetic determinant of shovel-shaped incisors. (2009)
  • Author(s): Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K, Hanihara T, Matsukusa H, Kawamura S, Maki K, Osawa M, Ishida H, Oota H.
  • Journal Title: American Journal of Human Genetics 85 Pages: 528-535
  • Peer Reviewed
• [Journal Article] FGFR2 is associated with hair thickness in Asian populations. (2009)
  • Author(s): Fujimoto A, Nishida N, Kimura R, Miyagawa T, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Tsunoda T, Tokunaga K, Ohashi J.
  • Journal Title: Journal of Human Genetics 54 Pages: 461-465
  • NAID: 10030731374
  • Peer Reviewed
• [Journal Article] FGFR2 is associated with hair thickness in Asian populations (2009)
  • Author(s): Fujimoto A, et al.
  • Journal Title: Journal of Human Genetics 54 Pages: 461-645
  • Peer Reviewed
• [Journal Article] A common variation in EDAR is a genetic determinant of shovel-shaped incisors (2009)
  • Author(s): Kimura R, et al.
  • Journal Title: American Journal of Human Genetics 85 Pages: 528-535
  • Peer Reviewed
• [Journal Article] Stature estimation formulae from radio graphically determined limb bone length in a modern Japanese population (2009)
  • Author(s): Hasegawa I, et al.
  • Journal Title: Legal Medicine 11 Pages: 260-266
  • Peer Reviewed
• [Journal Article] Mapping human genetic diversity in Asia (2009)
  • Author(s): HUGO Pan-Asian SNP Consortium
  • Journal Title: Science 326 Pages: 1541-1545
  • Peer Reviewed
• [Journal Article] Gene Flow and Natural Selection in Oceanic Human Populations, Inferred from Genome-wide SNP Typing. (2008)
  • Author(s): Kimura R, Ohashi J, Matsumura Y, Nakazawa M, Inaoka T, Ohtsuka R, Osawa M, Tokunaga K.
  • Journal Title: Molecular Biology and Evolution 25 Pages: 1750-1761
  • Peer Reviewed
• [Journal Article] A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. (2008)
  • Author(s): Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R, Tokunaga K.
  • Journal Title: Human Genetics 124 Pages: 179-185
  • NAID: 120007131497
  • Peer Reviewed
• [Journal Article] Gene flow and natural selection in Oceanic human populations, inferred from genome-wide SNP typing (2008)
  • Author(s): Kimura R, et.al.
  • Journal Title: Molecular Biology and Evolution 25 Pages: 1750-1761
  • Peer Reviewed
• [Journal Article] A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia (2008)
  • Author(s): Fujimoto A et.tal.
  • Journal Title: Human Genetics 179-185 Pages: 179-185
  • Peer Reviewed
• [Presentation] シャベル型切歯の遺伝要因 (2009)
  • Author(s): 木村亮介, 他
  • Organizer: 第14回日本顔学会大会
  • Place of Presentation: 鹿児島大学(鹿児島県)
  • Year and Date: 2009-11-01
• [Presentation] A nonsynonymous SNP in EDAR is associated with tooth shoveling. Poster (2009)
  • Author(s): Kimura R, Yamaguchi T, Maki K, Takeda M, Kondo O, Hanihara T, Osawa M, Ishida H, Kawamura S, Oota H.
  • Organizer: The American Society of Human Genetics 59th Annual Meeting
  • Place of Presentation: Hawaii
  • Year and Date: 2009-10-21
• [Presentation] A nonsynonymous SNP in EDAR is associated with tooth shoveling (2009)
  • Author(s): Kimura R, et al.
  • Organizer: The 59th Annual Meeting, The American Society of Human Genetics
  • Place of Presentation: Hawaii Convention Center (Hawaiim, USA)
  • Year and Date: 2009-10-21
• [Presentation] 歯形態の遺伝学:シャベル型切歯とEDAR (2009)
  • Author(s): 木村亮介, 山口徹太郎, 槇宏太郎, 武田摩耶子, 近藤修, 埴原恒彦, 大澤資樹, 石田肇, 河村正二, 太田博樹
  • Organizer: 第63回日本人類学会大会
  • Place of Presentation: 東京
  • Year and Date: 2009-10-03
• [Presentation] 歯形態の遺伝学:シャベル型切歯とEDAR (2009)
  • Author(s): 木村亮介, 他
  • Organizer: 第63回日本人類学会大会
  • Place of Presentation: シェーンバッハ・サボー(東京都)
  • Year and Date: 2009-10-03
• [Presentation] シャベル型切歯とEDAR多型との関連 (2009)
  • Author(s): 木村亮介, 山口徹太郎, 槇宏太郎, 武田摩耶子, 近藤修, 埴原恒彦, 大澤資樹, 石田肇, 河村正二, 太田博樹
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] ヒト形態形質に関連する遺伝子の同定とその戦略. ワークショップ「量的形質研究の展望」 (2009)
  • Author(s): 木村亮介
  • Organizer: 日本遺伝学会第81回大会
  • Place of Presentation: 松本
  • Year and Date: 2009-09-17
• [Presentation] ヒト形態形質に関連する遺伝子的同定とその戦略 (2009)
  • Author(s): 木村亮介
  • Organizer: 日本遺伝学会第81回大会
  • Place of Presentation: 信州大学(長野県)
  • Year and Date: 2009-09-17
• [Presentation] 形態形質を担う遺伝子の探索. ワークショップ「ヒト集団の形態変異とゲノム多様性:日本列島(北海道～沖縄)にフォーカスして」 (2009)
  • Author(s): 木村亮介
  • Organizer: 第11回日本進化学会大会
  • Place of Presentation: 札幌
  • Year and Date: 2009-09-03
• [Presentation] 形態形質を担う遺伝子の探索 (2009)
  • Author(s): 木村亮介
  • Organizer: 第11回日本進化学会大会
  • Place of Presentation: 北海道大学(北海道)
  • Year and Date: 2009-09-03
• [Presentation] Genetic differentiation of genes involved in craniofacial anomalies between human populations. Poster (2008)
  • Author(s): Kimura R, Osawa M.
  • Organizer: The American Society of Human Genetics 58th Annual Meeting
  • Place of Presentation: Philadelphia
  • Year and Date: 2008-11-13
• [Presentation] ゲノムワイドSNPタイピングチップを用いたオセアニア人類集団における自然選択の探索 (2008)
  • Author(s): 木村亮介
  • Organizer: 第10回日本進化学会大会
  • Place of Presentation: 東京
  • Year and Date: 2008-08-23
• [Presentation] Genetic differentiation of genes involved in craniofacial anomalies between human populations (2008)
  • Author(s): Kimura R, Osawa M
  • Organizer: The American Society of Human Genetics 58th Annual Meeting
  • Place of Presentation: Philadelphia, USA
• [Book] Handbook of Human Molecular Evolution(Cooper DN, Kehrer-Sawatzki eds., Identifying Regions of the Human Genome that Exhibit Evidence for Positive Selection., 分担執筆) (2008)
  • Author(s): Kimura R, Ohashi J.
  • Publisher: Wiley
• [Book] Handbook of Human Molecular Evolution (2008)
  • Author(s): Cooper DN, Kehrer-Sawatzki Heds
  • Total Pages: 10
  • Publisher: Wiley
• [Remarks]
  • URL: http://w3.u-ryukyu.ac.jp/anthropology/index.html
• [Remarks] 朝日新聞朝刊2010年1月12日科学面に研究成果が掲載:シャベル型切歯の遺伝子「緑の黒髪」と同じ変異
• [Remarks] 月刊ジュニアアエラ(朝日新聞出版)2010年3月号に研究成果が掲載:「シャベル型切歯」と「太い黒髪」は同じ遺伝子の変異が原因
• [Remarks]
  • URL: http://w3.u-ryukyu.ac.jp/anthropology/index.html