Polymorphism analysis of MTHFR，BMPR1B and TYMS in microtia

Abstract

Objective:To explore the relationship between MTHFR，BMPR1B and TYMS polymorphism and congenitial microtia in Chinese Han population.Method:A total of 180 microtia patients and 141 healthy participants were enrolled in this study.The genotyping of MTHFR rs4846049, BMPR1B rs1434536 and TYMS rs2790 of the participants were examined with multiple PCR. Frequencies and allele distribution of MTHFR rs4846049,BMPR1B rs1434536 and TYMS rs2790 between cases and control were analyzed with Chi-square test. Result:The genotype frequency distribution of TYMS rs27901 polymorphism was significantly different between two groups(P<0.05).Furthermore, gender stratified analysis showed that TYMS rs2790 polymorphism mainly increase the risks of congenitial microtia in male(P<0.05).Compared with AA genotype,the mircotia risks of subjects with AG GG AG+GG raised to 1.93, 3.23 and 2.10 times,respectively(95%CI:1.07-3.48、1.12-9.33 and 1.20-3.68).However,there was no relationship between MTHFR rs4846049, BMPR1B rs1434536 and microtia. Conclusion:The TYMS rs2790 polymorphism may be a risk factor of microtia in male.