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JACC：SGLT1基因突变引起的葡萄糖吸收减少可降低心血管代谢风险

2018-10-05 MedSci MedSci原创

心血管突变代谢
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SGLT1基因的功能缺失性突变会导致一种罕见的葡萄糖吸收障碍综合征，如果不治疗的话会于婴儿期死亡。本研究的目的旨在寻找SGLT1基因的功能性变异，并评估其对临床的影响。本研究对ARIC临床研究中的参与者进行了全外显子测序，并对SGLT1基因的功能性错义变异与2小时口服糖耐量试验结果的相关性进行评估。最终共纳入5687例研究对象（平均年龄54 ± 6岁，男性占47%）。分析结果显示，携带三种错义突变

SGLT1基因的功能缺失性突变会导致一种罕见的葡萄糖吸收障碍综合征，如果不治疗的话会于婴儿期死亡。本研究的目的旨在寻找SGLT1基因的功能性变异，并评估其对临床的影响。

本研究对ARIC临床研究中的参与者进行了全外显子测序，并对SGLT1基因的功能性错义变异与2小时口服糖耐量试验结果的相关性进行评估。最终共纳入5687例研究对象（平均年龄54 ± 6岁，男性占47%）。分析结果显示，携带三种错义突变（Asn51Ser， Ala411Thr和His615Gln）对象的2小时血糖更低，发生糖耐量损伤的几率也更低，这种结果也在其他两个人群中得到了验证。通过孟德尔随机化方法，通过抑制SGLT1导致的2小时葡萄糖降低可以减少肥胖、糖尿病、心衰和死亡的发生风险。

研究结果显示，SGLT1基因的功能性损伤突变可以对饮食引起的高血糖起到保护作用，小肠葡糖糖吸收的减少可以降低长期的心血管代谢风险。

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    2018-11-11 tulenzi

    #SGLT#

    0

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    2019-09-14 licz0423

    #SGLT1#

    0

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    2019-03-02 fengting3

    #心血管代谢#

    0

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    2019-09-16 hbwxf

    #JACC#

    0

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    2018-10-07 12498568m50暂无昵称

    #ACC#

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    2018-10-05 医者仁心5538

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