A986S カルシウム感受受体の多形態化と循環中のカルシウム濃度

D E Cole¹, V D Peltekova, L A Rubin

¹Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada. davidec.cole@utoronto.ca

Lancet (London, England)

|February 19, 1999

まとめ

一般的なCASR A986S遺伝子変異は,細胞外カルシウムレベルに大きな影響を与える. この遺伝的多形性は,カルシウム調節の重要な要因であり,個人を骨やミネラル疾患に誘発する可能性があります.

科学分野:

遺伝学遺伝学とは
バイオケミストリーバイオケミストリー
エンドクリノロジーエンドクリノロジー

背景:

細胞外カルシウム濃度は,甲状腺ホルモンによって,カルシウム感受受体 (CASR) を介して調節されます.
CASR遺伝子変異は,カルシウムホメオスタシスに影響し,家族性高カルシウム症または低カルシウム症を引き起こす.
一般的なCASR A986Sミッセンスのポリモルフィズムは,カルシウム濃度の潜在的な遺伝的決定因子です.

研究の目的:

CASR A986Sポリモルフィズムと細胞外カルシウム濃度の関連性を調査する.
血清カルシウムレベルの遺伝的および生化学的予測要因を特定する.

主な方法:

163人の健康な女性におけるCASR A986S変異の遺伝子タイプ化.
血清カルシウム,アルバミン,リン酸,副甲状腺ホルモン,pHの測定.
84人の女性のサブセットから全血中のイオン化されたカルシウムの測定.

主要な成果:

A986S遺伝子型は,アルバミンやその他の生化学的要因を調整した後の血清カルシウムレベルと独立して関連していました.
アルブミン,リン酸,副甲状腺ホルモン,pH,およびA986S遺伝子型は,血清カルシウムの変化の74%を共同で説明しています.
断食全血イオン化されたカルシウムは,986S変種との正の関連を示した.

結論:

CASR A986Sポリモルフィズムは,細胞外カルシウム調節に大きく影響する.
この一般的な遺伝的変異は,カルシウム不均衡と骨/鉱物代謝を含む疾患への予備性候補である.

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