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Results:

A significantly increased risk for BHMT+ 742AA genotype with an odds ratio of 4.96 (95% confidence interval (CI): 1.66–14.88, P= 0.0036) was observed. For PEMT rs12325817 and CHDH rs12676, no significant difference in allelic and genotypic frequencies was observed. In genotypic combination analysis considering PEMT− 744GG/CHDH+ 432GG/BHMT+ 742GG as the reference combination, PEMT− 744GC/CHDH+ 432GG/BHMT+ 742GG genotypic combination was significantly higher in DSM compared with that in CMs with an odds ratio of 2.061 (95% CI: 1.10–3.86, P= 0.0342). We also observed an epistatic interaction between methylenetetrahydrofolate reductase (MTHFR) rs1801133 and choline metabolic pathway gene variants.

Conclusions:

Our findings indicate impaired choline metabolism showing a greater risk for DS, especially in a population associated with homocysteine-folate impairment …