PNPLA3 Gene Polymorphisms in HCV/HIV-Coinfected Individuals.
PNPLA3 Gene Polymorphisms in HCV/HIV-Coinfected Individuals.
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DOI：
10.1007/s10620-018-5278-y
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发表时间：
2018-11
影响因子：
3.1
通讯作者：
ACTG 5294 BIRTH Study Team
中科院分区：
文献类型：
--
作者：
Sherman KE;Rouster SD;Kang M;Umbleja T;Sterling R;Butt AA;ACTG 5294 BIRTH Study Team
The patatin-like phospholipase domain containing 3 (PNPLA3) gene has been associated with development of alcoholic and non-alcoholic steatohepatitis. Using a newly developed and validated assay for PNPLA3, we explored the prevalence of gene polymorphisms in a cohort of HCV/HIV coinfected individuals to determine if there was an association with insulin resistance or hepatic fibrosis. A high-resolution melting point (HRM) assay was developed and validated. The assay was used to evaluate samples obtained in the context of a clinical trial performed at ACTG sites across the U.S. in HIV-infected patients. Clinical features and treatment outcomes were assessed in relation to the PNPLA3 genotype. The HRM methodology demonstrated 100% concordance with results obtained by Sanger sequencing. Among 241 participants tested, 66.0% had the wildtype allele (CC) and the remainder had the aberrant PNPLA3 gene polymorphism in the homozygotic (GG) or heterozygotic (CG) form. Race and ethnicity were associated with PNPLA3 genotype but fibrosis stage, HOMA (Homeostatic Model Assessment of Insulin Resistance), and HCV treatment outcome was not. The HRM method is an effective, rapid technique for characterizing PNPLA3 genotype. In those with HCV/HIV infection, nearly 40% carry gene polymorphisms associated with development of NASH or ASH. Prospective studies should focus on this group to determine if they represent a subset of HIV-infected persons at increased risk of fibrotic progression.
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影响因子：
4.5
作者：
Speliotes EK;Yerges-Armstrong LM;Wu J;Hernaez R;Kim LJ;Palmer CD;Gudnason V;Eiriksdottir G;Garcia ME;Launer LJ;Nalls MA;Clark JM;Mitchell BD;Shuldiner AR;Butler JL;Tomas M;Hoffmann U;Hwang SJ;Massaro JM;O'Donnell CJ;Sahani DV;Salomaa V;Schadt EE;Schwartz SM;Siscovick DS;NASH CRN;GIANT Consortium;MAGIC Investigators;Voight BF;Carr JJ;Feitosa MF;Harris TB;Fox CS;Smith AV;Kao WH;Hirschhorn JN;Borecki IB;GOLD Consortium
通讯作者：
GOLD Consortium
影响因子：
3.7
作者：
Dold L;Luda C;Schwarze-Zander C;Boesecke C;Hansel C;Nischalke HD;Lutz P;Mohr R;Wasmuth JC;Strassburg CP;Trebicka J;Rockstroh JK;Spengler U
通讯作者：
Spengler U
影响因子：
3.4
作者：
Fan, Jia-Hao;Xiang, Ming-Que;Guo, Jin-Jun
通讯作者：
Guo, Jin-Jun
影响因子：
3.7
作者：
Scheiner, Bernhard;Mandorfer, Mattias;Reiberger, Thomas
通讯作者：
Reiberger, Thomas
影响因子：
3.8
作者：
Jimenez-Sousa, Maria A.;Berenguer, Juan;Resino, Salvador
通讯作者：
Resino, Salvador