To explore the relationship between 24 related gene single nucleotide polymorphisms (SNPs) and Budd-Chiari syndrome (BCS) in northern Anhui Province, and to provide a new basis for BCS genetic diagnosis and targeted treatment.

80 patients with Budd-Chiari syndrome (BCS group) and 80 healthy controls (control group) were selected from the First Affiliated Hospital of Bengbu Medical College from February 2017 to June 2019. Venous blood was taken to extract DNA. Agena MassARRAY SNP combined with multiplex PCR technology, MassARRAY iPLEX single base extension technology and matrix-assisted laser desorption ionization time-of-flight mass spectrometry mass spectrometry technology were used to detect the 24 SNPs in 21 genes by detecting the molecular weight of extension products, and analyze the differential expression of each genotype and allele in each group.

The statistical results of 6 SNP loci did not meet the Hardy-Weinberg equilibrium. The genotype frequency distribution of 18 SNP loci was not statistically different between the BCS group and the control group. The frequency of MTHFR C677T (rs1801133) locus A allele frequency in the BCS group was higher than that in the control group (OR=2.769, 95% CI: 1.171-4.465, P=0.004).

The MTHFR C677T (rs1801133) locus A allele may be a risk factor for BCS in northern Anhui.