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  • Common susceptibility loci ...
    Li, Yun; Wang, Wen-Jun; Chen, Wei-Wei; Fan, Xue; Cao, Lu; Xing, Ze-Yu; Zhen, Qi; Xu, Qiong-Qiong; Zhu, Chen-Yu; Ge, Hui-Yao; Chen, Dian; Zhang, Rui-Xue; Shu, Chang; Du, Wei; Chen, Shi-Rui; Yuan, Xie; Zhang, Hui; Hu, Xia; Mao, Xu-Ming; Sun, Qiu-Ning

    Chinese medical journal, 10/2020, Letnik: 133, Številka: 19
    Journal Article

    Additionally, no study, to our knowledge, has investigated the common genetic factors for LSc and SSc. ...it would be of significant interest to examine the susceptibility of LSc and determine whether there are any correlations between the genetic profiles of SSc and LSc. The combined analysis of the LSc and SSc samples revealed significant associations for SNPs rs7574865, rs10168266, rs3821236 within the STAT4 gene and SNP rs9303277 in the Ikaros family zinc finger protein 3 gene (IKZF3) (Pmeta = 1.97 × 10−7 – 8.92 × 10−6, OR = 1.30–1.35). Because SNPs rs7574865, rs10168266, and rs3821236 were all located within chromosome 2, we went on to perform linkage disequilibrium analysis which uncovered a weak correlation between rs7574865 and rs3821236 (r2 = 0.33) and a strong correlation between rs7574865 and rs10168266 (r2 = 0.80). CSK is involved in the development of fibrosis via its regulation of focal adhesion kinase (FAK), which is needed to transmit integrin signaling when fibroblasts adhere to the extracellular matrix. ...polymorphisms in the CSK gene can be linked to SSc pathogenesis making CSK mutations another potential risk factor for SSc. ...our study was limited by the relatively small number of SSc and LSc cases. ...our future research should be expanded to include a larger group of patients to allow for the validation of these SNPs and to determine if these SNPs are causative for LSc or SSc.