The MUC5B promoter variant does not predict progression of interstitial lung disease in systemic sclerosis.
The MUC5B promoter variant does not predict progression of interstitial lung disease in systemic sclerosis.
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DOI：
10.1016/j.semarthrit.2020.06.003
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发表时间：
2020-10
影响因子：
5
通讯作者：
Assassi S
中科院分区：
文献类型：
--
作者：
Volkmann ER;Tashkin DP;Roth MD;Li N;Charles J;Mayes M;Kim G;Goldin J;Pourzand L;Clements PJ;Furst DE;Khanna D;Elashoff RM;Assassi S
研究系统性硬化-间质性肺病（SSc-ILD）患者中MUC 5 B启动子变体rs35705950的患病率，以及其存在是否可预测环磷酰胺（CYC）和霉酚酸酯（MMF）免疫抑制的应答。参加硬皮病肺研究（SLS）II（MMF与CYC）的SSc-ILD患者被纳入本研究（N=142）。采用TaqMan基因分型法检测MUC 5 B rs35705950单核苷酸多态性。建立了联合模型，以检查这种变异的存在如何影响2年内的用力肺活量（FVC）。线性回归模型被用来研究这种变异的存在和定量放射学纤维化变化之间的关系。在128名受试者中，18%的人至少有一个MUC 5 B次要等位基因拷贝。在年龄、性别、SSc亚型、ILD疾病严重程度方面，携带至少一个该等位基因拷贝的患者与不携带该等位基因的患者相似;然而，该变异在非裔美国人中罕见（3.7%）。MUC 5 B变异体的存在不影响FVC的病程，也不影响两个治疗组中定量影像学纤维化、毛玻璃或ILD评分的变化。在SSc-ILD随机对照试验的背景下，MUC 5 B变异体的存在不预测疾病的严重程度，也不影响对MMF或CYC的治疗反应。需要进一步的研究来确定这种变异是否会影响其他SSc队列和接受抗纤维化治疗的患者的ILD进展。
To investigate the prevalence of the MUC5B promoter variant rs35705950 in patients with systemic sclerosis-interstitial lung disease (SSc-ILD) and whether its presence predicts response to immunosuppression with cyclophosphamide (CYC) and mycophenolate (MMF). SSc-ILD patients who participated in Scleroderma Lung Study (SLS) II (MMF versus CYC) were included in this study (N=142). TaqMan Genotyping Assays were used to determine the MUC5B rs35705950 single nucleotide polymorphism. Joint models were created to examine how the presence of this variant affected the course of the forced vital capacity (FVC) over 2 years. Linear regression models were used to investigate the relationship between the presence of this variant and the change in quantitative radiographic fibrosis. Among 128 participants who were tested for this variant, 18% possessed at least one copy of the MUC5B minor allele. Patients with at least one copy of this allele were similar to those without the allele with respect to age, sex, SSc subtype, ILD disease severity; however, this variant was rare among African Americans (3.7%). The presence of the MUC5B variant did not affect the course of the FVC, nor the change in quantitative radiographic fibrosis, ground glass or ILD scores in either treatment arm. In the context of a randomized controlled trial for SSc-ILD, the presence of the MUC5B variant did not predict disease severity, nor affect treatment response to MMF or CYC. Future studies are needed to determine whether this variant affects ILD progression in other SSc cohorts and in patients receiving anti-fibrotic therapy.
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影响因子：
3.9
作者：
Ley B;Collard HR
通讯作者：
Collard HR
影响因子：
27.4
作者：
Volkmann ER;Tashkin DP;Sim M;Li N;Goldmuntz E;Keyes-Elstein L;Pinckney A;Furst DE;Clements PJ;Khanna D;Steen V;Schraufnagel DE;Arami S;Hsu V;Roth MD;Elashoff RM;Sullivan KM;SLS I and SLS II study groups
通讯作者：
SLS I and SLS II study groups
影响因子：
10
作者：
Stock, Carmel J.;Sato, Hiroe;Renzoni, Elisabetta A.
通讯作者：
Renzoni, Elisabetta A.
DOI：
10.1056/nejmoa1801562
发表时间：
2018-12-06
期刊：
The New England journal of medicine
影响因子：
--
作者：
Juge PA;Lee JS;Ebstein E;Furukawa H;Dobrinskikh E;Gazal S;Kannengiesser C;Ottaviani S;Oka S;Tohma S;Tsuchiya N;Rojas-Serrano J;González-Pérez MI;Mejía M;Buendía-Roldán I;Falfán-Valencia R;Ambrocio-Ortiz E;Manali E;Papiris SA;Karageorgas T;Boumpas D;Antoniou K;van Moorsel CHM;van der Vis J;de Man YA;Grutters JC;Wang Y;Borie R;Wemeau-Stervinou L;Wallaert B;Flipo RM;Nunes H;Valeyre D;Saidenberg-Kermanac'h N;Boissier MC;Marchand-Adam S;Frazier A;Richette P;Allanore Y;Sibilia J;Dromer C;Richez C;Schaeverbeke T;Lioté H;Thabut G;Nathan N;Amselem S;Soubrier M;Cottin V;Clément A;Deane K;Walts AD;Fingerlin T;Fischer A;Ryu JH;Matteson EL;Niewold TB;Assayag D;Gross A;Wolters P;Schwarz MI;Holers M;Solomon JJ;Doyle T;Rosas IO;Blauwendraat C;Nalls MA;Debray MP;Boileau C;Crestani B;Schwartz DA;Dieudé P
通讯作者：
Dieudé P
DOI：
10.1001/jama.2013.5827
发表时间：
2013-06-05
期刊：
JAMA
影响因子：
--
作者：
Peljto AL;Zhang Y;Fingerlin TE;Ma SF;Garcia JG;Richards TJ;Silveira LJ;Lindell KO;Steele MP;Loyd JE;Gibson KF;Seibold MA;Brown KK;Talbert JL;Markin C;Kossen K;Seiwert SD;Murphy E;Noth I;Schwarz MI;Kaminski N;Schwartz DA
通讯作者：
Schwartz DA