Association between MTHFR, BMPR1B, and TYMS Polymorphism and Microtia
”Background” Microtia is a common congenital malformation with an environmental and genetic factor, and the etiology is still uncertain.MTHFR, BMPR1B and TYMS ate relevant to many diseases including malformations.”Objective” Here, we tested whether single-nucleotide polymorphisms (SNPs) in 3”-untranslated regions of malformation-related genes were related with microtia susceptibility.”Methods” A total of 180 cases and 141 controls were collected.The genotype frequencies and allele distribution of MTHFR, BMPR1B and TYMS polymorphism in cases and controls were examined by Multiplex PCR and Multiplex LDR, respectively.”Results” The distribution of TYMS rs2790 genotype and allele frequencies has significantly different between cases and controls (P<0.05), but not the MTHFR rs4846049 and BMPR1B rs1434536 (P>0.05).”Conclusion” The mutation of rs2790 in TYMS gene may be a risk factor of microtia.
microtia MTHFR BMPR1B TYMS polymorphism genetic susceptibility
SUI Jing ZHANG Yan-qiu MA Shu-mei LI Cheng-yun LIU Ning LIU Yu-feng LIANG Ge-yu
Key Laboratory of Environmental Medicine Engineering,Ministry of Education/School of Public Health,S Department of Plastic Surgery,Jiangsu Province Hospital of TCM,Jiangsu 210029,China
国内会议
上海
英文
138-143
2015-11-08（万方平台首次上网日期，不代表论文的发表时间）