持続的なチック障害は17q12複製と関連している.
PubMedで要約を見る
まとめ
この要約は機械生成です。この研究では,コピー番号変異 (CNV) を分析することによって,トゥレット症候群 (TS) と持続性チック障害 (PTD) の新しい遺伝的危険因子を特定しました. 17q12での新しい重複は,これらの神経発達状態と有意に関連していました.
科学分野
- 遺伝学
- 神経科学
- 医学 遺伝学
背景
- ツーレット症候群 (TS) と持続性チック障害 (PTD) は,子供期に発症する遺伝性神経精神疾患である.
- TS/PTDの特定の遺伝的危険因子を特定することは,以前の研究でサンプルサイズによって制限されていた.
研究 の 目的
- TS/PTDの複製数変異 (CNV) 分析のためのサンプルサイズを増やす.
- ゲノムデータのメタ解析により,TS/PTDに関連する新しい遺伝的位置を特定する.
主な方法
- 3つのTS/PTDゲノミクスコンソーシアムのマイクロアレイのCNVデータをメタ分析した.
- 既存のデータは3,291件の新しいデータで補足され,合計で5,725件の症例と10,982件のコントロール結果となりました.
- 重要なCNV関連性を特定するために全ゲノム分析を行った.
主要な成果
- TS/PTDの症例では,不耐性遺伝子の超希少な欠損が多くみられ (OR=1.68) 安定した神経発達のCNVが多くみられた (OR=1.42).
- 17q12で,複製を含む,全ゲノムにわたって重要な新種のCNVロクスが発見されました.
- 17q12の特定の約1. 4Mbの複製は8つのケースで発見され, *ACACA*遺伝子を含むより小さな複製は1つのケースで発見された.
結論
- 希少で遺伝的なCNVは,TS/PTDの遺伝的構造に大きく寄与する.
- TS/PTDと17q12の複製に関する全ゲノムにわたる新しい関連性を特定した.
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