複雑な疾患に関連する配列変異の親の起源
Augustine Kong1, Valgerdur Steinthorsdottir, Gisli Masson
1deCODE genetics, Sturlugata 8, 101 Reykjavík, Iceland. kong@decode.is
Nature
|December 18, 2009
まとめ
遺伝的変異の親の起源は,病気のリスクに影響を与えます. この研究では,SNPの親特有の関連が乳がん,基礎細胞癌,アイスランド人の2型糖尿病と関連していることが判明しました.
科学分野:
- 遺伝学 遺伝学とは
- ゲノミクスゲノミクスとは
- エピジェネティクス エピジェネティクス
背景:
- 全ゲノム関連研究 (GWAS) では,ヒトの特徴に関連する多数の配列変異が特定されています.
- これらの変種の影響に対する親の起源の影響は,主に見過ごされています.
- 親の遺伝パターンを理解することは,包括的な遺伝分析に不可欠です.
研究 の 目的:
- シングル・ヌクレオチド・ポリモルフィズム (SNP) と疾患との関連性に対する親の起源の影響を調査する.
- プリントされた遺伝子領域内の親特有の遺伝的関連を特定する.
- 新規のSNP結合とその表遺伝的改変を探求する.
主な方法:
- ゲノイロジーと長距離フェッシングを用いて,38167人のアイスランド人のゲノイタイプによる親のアレル起源を決定した.
- インプリントされた遺伝子と既知の疾患関連の500キロベース以内のSNPに焦点を当てた.
- 乳がん,基礎細胞癌,および2型糖尿病を含む7つの独立したSNP関連を調べました.
主要な成果:
- 調べられた7つのSNPのうち5つのSNPに親の起源に関する特定の関連を特定した.
- これらの親特異的関連は,インプリントされた遺伝子で知られている2つのゲノム領域 (11p15と7q32) に集中していました.
- SNP rs2334499 (11p15) と2型糖尿病との間の新しい関連性を発見し,父親または母親の遺伝に基づいた対極的な効果を示した.
- rs2334499と相関し,メチル化パターンが変化した11p15のCTCF結合部位を異なるメチル化で発見した.
結論:
- 親の出身は,特定の遺伝子変異の病気に関連する影響に大きな影響を与えます.
- インプリントされた遺伝子領域は,親特有の遺伝効果のための重要な場所です.
- この発見は,遺伝的関連性研究と疾患リスク評価において,親の遺伝を考慮することの重要性を強調しています.
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