[Polymorphism analysis of MTHFR，BMPR1B and TYMS in microtia].

Area of Science:

• Genetics
• Developmental Biology
• Medical Research

Background:

• Congenital microtia is a birth defect affecting ear development.
• Genetic factors are implicated in the etiology of congenital microtia.
• Understanding the genetic basis can aid in diagnosis and prevention.

Purpose of the Study:

• To investigate the association between MTHFR, BMPR1B, and TYMS gene polymorphisms and congenital microtia in the Chinese Han population.
• To identify potential genetic risk factors for microtia.

Main Methods:

• Case-control study involving 180 microtia patients and 141 healthy controls.
• Genotyping of MTHFR rs4846049, BMPR1B rs1434536, and TYMS rs2790 using multiplex PCR.
• Statistical analysis using Chi-square test to compare genotype and allele frequencies.

Main Results:

• A significant difference in genotype frequency distribution for TYMS rs2790 polymorphism was observed between microtia cases and controls (P<0.05).
• TYMS rs2790 polymorphism was found to be a risk factor for congenital microtia, particularly in males.
• Individuals with AG, GG, or AG+GG genotypes had significantly increased risks of microtia compared to the AA genotype.

Conclusions:

• The TYMS rs2790 polymorphism is a potential risk factor for congenital microtia in the Chinese Han male population.
• No significant association was found between MTHFR rs4846049, BMPR1B rs1434536, and microtia.
• Further research is warranted to elucidate the specific mechanisms underlying the role of TYMS in microtia development.