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目前，國(guó)內(nèi)外雖然有CTLA-4基因多態(tài)性與多種自身免疫性疾病之間相關(guān)關(guān)系研究的報(bào)道，但所顯示的結(jié)果并不完全一致,其原因可能是因?yàn)榇嬖诜N族、地區(qū)、遺傳背景的差異所導(dǎo)致。如Yanagawa等[6]報(bào)道美國(guó)白種GD病人與CTLA-4多態(tài)性有較少的相關(guān)性，而在德國(guó)、加拿大及韓國(guó)人群中啟動(dòng)子多態(tài)性與GD顯著相關(guān)[7,8]。國(guó)內(nèi)周文旭等[9]研究發(fā)現(xiàn)CTLA-4基因啟動(dòng)子318(C/T)的多態(tài)性與GD的相關(guān)性是由于其與外顯子1連鎖不平衡，因此它是GD的一個(gè)遺傳危險(xiǎn)標(biāo)志，但不具有獨(dú)立易感作用。本研究結(jié)果顯示GD組與正常對(duì)照組的基因型及等位基因頻率相比較差異均無(wú)統(tǒng)計(jì)學(xué)意義，提示CTLA-4基因啟動(dòng)子318位點(diǎn)基因多態(tài)性與寧夏人群GD無(wú)明顯關(guān)聯(lián)。醫(yī).學(xué).全.在.線m.bhskgw.cn
CTLA-4是一種具有高度多態(tài)性的基因，我們?cè)诤罄m(xù)研究中，需進(jìn)一步增加研究病例數(shù)，在基因、蛋白的表達(dá)和功能等方面進(jìn)行更深入研究，以揭示此位點(diǎn)突變對(duì)GD作用和致病機(jī)理。同時(shí)，還要對(duì)CTLA-4基因的其他位點(diǎn)進(jìn)行研究，從而揭示CTLA-4基因與GD發(fā)病及地域和民族之間的關(guān)聯(lián)性。
【參考文獻(xiàn)】
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[9] 周文旭,施秉銀,王惠芳,等. 細(xì)胞毒性T淋巴細(xì)胞相關(guān)抗原-4基因多態(tài)性與自身免疫性甲狀腺病的相關(guān)性[J]. 西安交通大學(xué)學(xué)報(bào)(醫(yī)學(xué)版),2003,24 (2):170-173.
