C20orf54

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C20orf54 is located in autosomal 20p13 and contains five exons. The protein encoded by C20orf54 is involved in the transport function of riboflavin. Some studies have confirmed that C20orf54, as an important encoding gene involved in riboflavin transport, mainly exists in the small intestine and may participate in riboflavin absorption. If the gene C20orf54 is mutated, the transport and absorption of riboflavin in the body will also be affected. The intervention of riboflavin supplementation may result in individualized differences in the occurrence and development of esophageal squamous cell carcinoma (ESCC).

ESCC is one of the most common malignant tumors, but the pathogenesis of ESCC is still unclear. The evolution of normal esophageal mucosal cells into cancer cells is complicated, but studies show that genetic polymorphism is an important factor affecting the susceptibility of ESCC. Epidemiological statistics show that esophageal cancer has obvious geographical distribution, but ESCC occurs in a small number of people exposed to the same environmental factors. It can be seen that the susceptibility of individual genes plays a very important role in the occurrence and development of ESCC. Single nucleotide polymorphism (SNP) accounts for more than 90% of known polymorphism. Some SNP sites closely related to ESCC have been discovered by scholars successively. C20orf54 is a gene that encodes human riboflavin transfer protein. The coenzyme formed by riboflavin is an indispensable component of many oxidase systems. A study in kazak also found that the defective expression of C20orf54 was related to the development of ESCC, and pointed out that this may be the main mechanism for the decrease of plasma riboflavin levels in ESCC patients. Studies on SNP polymorphism detection at the rs3746804 site of C20orf54 gene have found that the C/C genotype is significantly higher than the normal control population in ESCC patients, suggesting that the C/C genotype at the rs3746804 site may be closely related to the susceptibility of ESCC. In a study, ESCC patients were grouped according to age, gender, clinical stage, lymph node metastasis and differentiation degree. The results showed that rs3746804 C20orf54 gene loci C/C genotype expression was significantly higher in the patients with lymph node metastasis patients without lymph node metastasis, prompt rs3746804 C20orf54 gene loci of C/C genotype changes may participate in the patients with ESCC tumor metastasis.

In summary, studies have shown that detection rate of C20orf54 gene C/C genotype at rs3746804 site is high in ESCC patients, which has certain clinical significance for early screening and prognosis evaluation of ESCC.