全ゲノム関連研究により,乳がんに対する新しい感受性位置が特定されました
Douglas F Easton1, Karen A Pooley, Alison M Dunning
1CR-UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK. d.easton@srl.cam.ac.uk
Nature
|May 29, 2007
まとめ
研究者は,大規模な全ゲノム関連研究を使用して,乳がんリスクに関連した5つの新しい遺伝的位置を特定しました. この発見は,既知の遺伝子を超えて,家族性乳がんの遺伝的基礎を説明するのに役立ちます.
科学分野:
- 遺伝学 遺伝学とは
- 腫瘍学 腫瘍学
- エピデミオロジー エピデミオロジー
背景:
- 乳がんは家族集団を呈しており,遺伝的要素が感受性を持っていることを示唆している.
- 現在確認されている感受性遺伝子は,家族性乳がんリスクの25%未満を説明している.
- 残った遺伝的変異は,中程度のリスク効果を持つ変異を含む可能性が高い.
研究 の 目的:
- 乳がんに対する遺伝的感受性アレルの追加を特定する.
- 乳がんの遺伝性に寄与する一般的な変異を調査する.
主な方法:
- 何千もの症例と対照群を含む2段階の全ゲノム関連研究 (GWAS) を実施しました.
- 227,876個の単一ヌクレオチドポリモルフィズム (SNPs) を利用して,一般的な変異を割り当てる.
- 22の独立した研究で30の有望なSNPの第3段階の確認を行った.
主要な成果:
- 乳がんリスクと有意に関連した5つの新しい独立した位置を特定した (P < 10^-7).
- FGFR2,TNRC9,MAP3K1,LSP1.1の候補遺伝子が4つの位置に含まれています.
- この研究では,偶然にも予想以上に重要なSNPが特定され,アプローチの有効性を示唆しました.
結論:
- この発見は,乳がんに対する遺伝的感受性の理解を広げている.
- このGWASアプローチは,追加の一般的な乳がんリスクアレルを発見するのに有効です.
- 特定された遺伝子は,乳がんの病因に関するさらなる研究のための潜在的な標的を提供します.
関連する概念動画
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GWAS does not require the identification of the target gene involved in...
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When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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lncRNA - Long Non-coding RNAs
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...
