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Familial Non-Medullary Thyroid Carcinoma
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
The FOXE1 gene (Forkhead box E1) is located at chromosome 9q22.33 and it encodes for the thyroid transcription factor-2, which regulates the gene expression of thyroglobulin and thyroperoxidase, and the migration of the thyroid from the pharynx to the neck [12]. Studies showed that mutant forms of FOXE1 promoted cell proliferation and migration, suggesting a role in tumor formation [13]. There are several inconsistent studies regarding FOXE1 gene, overall suggesting it might be a low-risk susceptibility gene for FNMTC [14].
Association of SNP rs1867277 in FOXE1 Gene and Cleft Lip with or without Cleft Palate in a Han Chinese Population
Published in Fetal and Pediatric Pathology, 2018
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
FOXE1 is one of the thyroid transcription factors, which play important roles in thyroid development. Originally, FOXE1 was identified as a thyroid-specific transcription factor and termed TTF2 (16). Thereafter, FOXE1 was found in other tissues, such as testis, epidermis, brain, heart, lung, hair follicles, thymus, kidney, placenta, liver, skeletal muscle, pancreas, colon and small intestine (17). FOXE1 contains a forkhead DNA-binding domain, which can bind and open chromatin structures and facilitates the binding of transcription factors to DNA (18). Therefore, FOXE1 gene is very important in embryonic development. The FOXE1-knockout mice could live to 2 days after birth and had a severe cleft palate (12). The result suggested that the perturbation of FOXE1 could contribute to the pathogenesis of CL ± P and CP. In 2004, a genome-wide scan suggested high linkage of the 9q22-q33 region with CL ± P, in which FOXE1 was located (10). Subsequent fine-mapping in this region showed an association between the SNPs in FOXE1 gene and CL ± P (11). Especially, rs3758249 and rs4460498 were the two most associated SNPs.