自閉症の遺伝的リスク
Sven Sandin1, Paul Lichtenstein2, Ralf Kuja-Halkola2
1Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden2Department of Psychosis Studies, Institute of Psychiatry, King's College London, United Kingdom.
JAMA
|May 6, 2014
まとめ
自閉症スペクトル障害 (ASD) のリスクは遺伝的関連性によって増加し,遺伝性は50%と推定されています. これらの発見は,ASDに罹患する家族における遺伝カウンセリングにおいて極めて重要です.
科学分野:
- 遺伝学 遺伝学とは
- 精神科医は精神病を患っている.
- エピデミオロジー エピデミオロジー
背景:
- 自閉症スペクトル障害 (ASD) は家族的集合を示していますが,個々のリスクに対する遺伝的および環境的要因の正確な貢献は不明です.
- ASDの病因を理解することは,正確なリスク評価と家族カウンセリングに不可欠です.
研究 の 目的:
- 自閉症スペクトル障害 (ASD) の家族集合と遺伝性を推定する.
- ASDの病因における遺伝的および環境的要因の役割を明らかにする.
主な方法:
- スウェーデンの大規模な集団ベースのコホート研究で,1982年から2006年の間に生まれた200万人以上の子供たちが参加しました.
- ASDの相対的な再発リスク (RRR) を計算するために,広範な兄弟といとこのペアを使用しました.
- 統計モデルを用いて,追加遺伝,支配遺伝,共有環境,非共有環境要因がASDに与える影響を推定した.
主要な成果:
- ASDの相対的な再発リスク (RRR) は,従兄弟 (RRR=2.0) から一卵性双生児 (RRR=153.0) まで,より密接な遺伝的関連性によって著しく増加しました.
- ASDの遺伝可能性の推定値は約50% (0.50) であり,自閉症障害でも同様の結果でした.
- データに最も適したエチオロギーモデルには,添加的な遺伝子と非共有の環境効果のみが含まれていた.
結論:
- ASDと自閉症障害の個々のリスクは,遺伝的関連性の増加とともに上昇します.
- ASDと自閉症障害の遺伝性は約50%と推定され,実質的な遺伝的要素を強調しています.
- これらの発見は,遺伝カウンセリングとASDの歴のある家族のリスク評価のための貴重な情報を提供します.
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