Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
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DOI：
10.3390/ph14080798
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发表时间：
2021-08-13
期刊：
影响因子：
--
通讯作者：
Martínez-Vizcaíno V
中科院分区：
文献类型：
--
作者：
Pascual-Morena C;Cavero-Redondo I;Saz-Lara A;Sequí-Domínguez I;Lucerón-Lucas-Torres M;Martínez-Vizcaíno V
转化生长因子-β(TGFR-β)通路可调节Duchenne型肌营养不良症的表型。这项荟萃分析旨在评估转化生长因子β途径中涉及的基因变异，包括潜伏的转化生长因子β结合蛋白4和分泌型磷蛋白1等基因与糖尿病患者步行丧失年龄(LOA)和心功能的关系。对每个基因变异的LOA风险比(HR)进行Meta分析。对单独使用糖皮质激素治疗的患者进行了亚组分析。8项研究被纳入系统综述，4项研究被纳入荟萃分析。系统评价表明，LTBP4单倍型IAAM(隐性模型)对LOA具有保护作用。研究还表明，SPP1rs28357094基因G(显性模式)与糖皮质激素治疗患者的早期LOA相关。LTBP4单倍型IAAM与LOA呈保护性关联，相关系数HR=0.78(95%CI：0.67~0.90)。未观察到SPP1rs28357094与LOA相关。LTBP4单倍型IAAM与晚期LOA相关，特别是在高加索人群中，而SPP1rs28357094基因型G可能与糖皮质激素反应不良有关。建议对SPP1 rs11730582、LTBP4 rs710160和THBS1 rs2725797进行进一步研究。
The transforming growth factor beta (TGFβ) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association of genetic variants involved in the TGFβ pathway, including the latent transforming growth factor beta binding protein 4 (LTBP4) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of ambulation (LoA) and cardiac function in patients with DMD. Meta-analyses were conducted for the hazard ratio (HR) of LoA for each genetic variant. A subgroup analysis was performed in patients treated exclusively with glucocorticoids. Eight studies were included in the systematic review and four in the meta-analyses. The systematic review suggests a protective effect of LTBP4 haplotype IAAM (recessive model) for LoA. It is also suggested that the SPP1 rs28357094 genotype G (dominant model) is associated with early LoA in glucocorticoids-treated patients. The meta-analysis of the LTBP4 haplotype IAAM showed a protective association with LoA, with an HR = 0.78 (95% CI: 0.67–0.90). No association with LoA was observed for the SPP1 rs28357094. The LTBP4 haplotype IAAM is associated with a later LoA, especially in the Caucasian population, while the SPP1 rs28357094 genotype G could be associated with a poor response to glucocorticoids. Future research is suggested for SPP1 rs11730582, LTBP4 rs710160, and THBS1 rs2725797.
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影响因子：
11.2
作者：
Flanigan, Kevin M.;Ceco, Ermelinda;Lamar, Kay-Marie;Kaminoh, Yuuki;Dunn, Diane M.;Mendell, Jerry R.;King, Wendy M.;Pestronk, Alan;Florence, Julaine M.;Mathews, Katherine D.;Finkel, Richard S.;Swoboda, Kathryn J.;Gappmaier, Eduard;Howard, Michael T.;Day, John W.;McDonald, Craig;McNally, Elizabeth M.;Weiss, Robert B.
通讯作者：
Weiss, Robert B.
影响因子：
3.7
作者：
Barp A;Bello L;Politano L;Melacini P;Calore C;Polo A;Vianello S;Sorarù G;Semplicini C;Pantic B;Taglia A;Picillo E;Magri F;Gorni K;Messina S;Vita GL;Vita G;Comi GP;Ermani M;Calvo V;Angelini C;Hoffman EP;Pegoraro E
通讯作者：
Pegoraro E
影响因子：
4.6
作者：
Giacopelli, F;Marciano, R;Ravazzolo, R
通讯作者：
Ravazzolo, R
影响因子：
3.3
作者：
Andreetta, Francesca;Bernasconi, Pia;Confalonieri, Paolo
通讯作者：
Confalonieri, Paolo
影响因子：
4.9
作者：
Iskenderian A;Liu N;Deng Q;Huang Y;Shen C;Palmieri K;Crooker R;Lundberg D;Kastrapeli N;Pescatore B;Romashko A;Dumas J;Comeau R;Norton A;Pan J;Rong H;Derakhchan K;Ehmann DE
通讯作者：
Ehmann DE