陽性選択されたFBN1ミセンセスの変異はペルー人の身長を縮める
Samira Asgari1,2,3,4,5, Yang Luo1,2,3,4,5, Ali Akbari4,6
1Center for Data Sciences, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Nature
|June 6, 2020
まとめ
ペルーでは ネイティブアメリカンの祖先は 身長が低いとされています 特定のFBN1遺伝子変異体 (E1297G) は,ペルーの沿岸環境への適応による可能性があり,身長を大幅に減らす.
科学分野:
- 人間遺伝学
- 集団遺伝学
- 人体測定法
背景:
- ペルー人の平均身長は 世界で最も低い.
- 人口の健康にとって 身長の変化に寄与する遺伝的要因を理解することは 極めて重要です
研究 の 目的:
- ペルーの多様な集団における身長減少の遺伝的基盤を調査する.
- ペルーの低身長に関連した特定の遺伝子変異を特定する.
主な方法:
- 民族的に多様なペルー人コホートにおける全ゲノム関連研究 (GWAS).
- FBN1遺伝子の分析と身長との関連
- 皮膚生検における微細繊維構造の調査
- 選択圧力を評価するための集団遺伝分析
主要な成果:
- FBN1 E1297Gという集団特有のミッセンスの変異は,身長減少と有意に関連していた.
- 小アルレルの各コピー (4. 7%の頻度) は高さ2.2cm減少し,ホモジゴットは4. 4cm減少した.
- G1297変異のホモジゴットは,不規則な縁を持つより密度の低いフィブリリン-1マイクロフィブリルを示した.
- E1297G変種は非アフリカ,特にペルーの集団で正の選択を受けているが,沿岸地域ではより一般的です.
結論:
- FBN1 E1297Gの変異はペルーの身長が低い主な原因であり,一般的な身長変異の最大の効果サイズが知られている.
- 微細繊維の構造的差異は,その変異体が結合組織に機能的影響を及ぼすことを示唆している.
- 変種の分布と選択パターンは,ペルーの沿岸部の環境要因への潜在的適応反応を示しています.
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