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KAKEN_24791088seika.pdf
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Title |
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TSH受容体とDUOX2の二重変異は先天性甲状腺機能低下症の病因となりうるか?
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Kana |
TSH ジュヨウタイ ト DUOX2 ノ ニジュウ ヘンイ ワ センテンセイ コウジョウセン キノウ テイカショウ ノ ビョウイン ト ナリ ウル カ ?
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TSH juyotai to DUOX2 no niju heni wa sentensei kojosen kino teikasho no byoin to nari uru ka?
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Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?
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諏訪内, 亜由子
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スワナイ, アユコ
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Suwanai, Ayuko
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慶應義塾大学・医学部・共同研究員
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Research team head
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科研費研究者番号 : 90383851
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長谷川, 奉延
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ハセガワ, トモノブ
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Hasegawa, Tomonobu
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慶應義塾大学・医学部・教授
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Research team member
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科研費研究者番号 : 20189533
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鳴海, 覚志
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ナルミ, サトシ
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Narumi, Satoshi
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慶應義塾大学・医学部・特任助教
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Research team member
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科研費研究者番号 : 40365317
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2014
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科学研究費補助金研究成果報告書
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2013
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Abstract |
先天性甲状腺機能低下症(CH)の発症機序の大部分は不明であるが、一部は単一遺伝子異常による。複数遺伝子の同時変異保有がCHの発症要因となり得るかは検証されていない。本研究では、CH患者401名を遺伝子解析し、TSHR/DUOX2二重変異保有者4名を同定した。二重変異保有者の頻度は一般人口で1/11,524であり、これに比べ、患者群での頻度(4/401)は有意に高いものの、保有者の一部のみがCHを発症すると考えられた。以上から、TSHR/DUOX2二重変異はそれのみではCHを発症しないが、発症の強力なリスク因子となることが明らかにされた。
The etiology of congenital hypothyroidism (CH) is largely unknown. A minor subset of CH patients has single gene mutation. However, it has not been studied whether simultaneous mutations in two or more genes can cause CH. In the present study, we enrolled and sequenced 401 CH patients, and found 4 patients that had heterozygous mutations in the TSH receptor gene (TSHR) and the dual oxidase 2 gene (DUOX2) simultaneously ("double heterozygotes"). Based on the frequencies of heterozygotes of TSHR (1/172) and DUOX2 (1/67), such double heterozygotes are expected to be observed in 1/11,524 in the general population. Thus, considering the frequency of CH (1/3,000) and the frequency of double heterozygotes among CH patients (4/401), most double heterozygotes are not affected by CH. Nonetheless, extremely high rate of double heterozygotes among CH patients, as compared with among the general population, indicates that simultaneous mutations in TSHR and DUOX2 acts as a strong risk factor for CH.
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研究種目 : 若手研究(B)
研究期間 : 2012~2013
課題番号 : 24791088
研究分野 : 医歯薬学
科研費の分科・細目 : 内科系臨床医学・小児科学
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