| 摘要 |
PROBLEM TO BE SOLVED: To establish techniques of determining the risk of onset using the detection of an esophageal achalasia susceptibility gene and its SNP.SOLUTION: The invention relates to a determination method for the risk of onset of esophageal achalasia comprising detecting a single-nucleotide polymorphism represented by the rs number registered in National Center for Biotechnology Information (NCBI) SNP database, the single-nucleotide polymorphism being one or more single-nucleotide polymorphisms selected from the group consisting of rs1881420 and rs3795850 in an ALK gene on human chromosome number 2, rs1063646 in PSORS1C1 gene on human chromosome number 6, rs2032582 in ABCB1 gene on human chromosome number 7, rs2526374 in RP5-1171I10.4 or RNF43 gene on human chromosome number 17, rs1127354 in ITPA gene on human chromosome number 20, and rs4898 in TIMP1 gene or SYN1 gene on human X chromosome, and/or a single-nucleotide polymorphism in linkage disequilibrium with the single-nucleotide polymorphism. According to the invention, determining the risk of onset of esophageal achalasia in an early stage is enabled, and giving an early medical instruction to a patient with a high risk or initiating a therapy becomes possible.SELECTED DRAWING: None |
