Zuying Xu1,2,3, Shinan Wu4,5, Qiong Xing1,2,3, Xi Wang5, Huifen Xiang1,2,3, Yuping Xu1,2,3, Jing Wang6, Xiaojin He1,2,3, Binbin Wang7,8, Yunxia Cao9,10,11. 1. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China. 2. Institute of Reproductive Genetics, Anhui Medical University, Hefei, China. 3. Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China. 4. Graduate School of Peking Union Medical College, Beijing, China. 5. Center for Genetics, National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing, 100081, China. 6. Department of Medical Genetics, The Capital Medical University, Beijing, China. 7. Graduate School of Peking Union Medical College, Beijing, China. wbbahu@163.com. 8. Center for Genetics, National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing, 100081, China. wbbahu@163.com. 9. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China. caoyunxia6@126.com. 10. Institute of Reproductive Genetics, Anhui Medical University, Hefei, China. caoyunxia6@126.com. 11. Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China. caoyunxia6@126.com.
Abstract
PURPOSE: The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females. METHODS: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls. RESULTS: We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA. The genotype distributions of the SNP rs12266644 have a statistically significant difference in the MDA patients and controls with a p value = 0.008. In the dominant model, we also observed that the GT + TT genotype increased the risk for MDA (p = 0.015, OR = 1.637, 95 % CI = 1.096-2.443). CONCLUSION: The polymorphism rs12266644 of PAX2 might be a risk factor for MDA in Chinese Han females.
PURPOSE: The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females. METHODS: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls. RESULTS: We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA. The genotype distributions of the SNP rs12266644 have a statistically significant difference in the MDA patients and controls with a p value = 0.008. In the dominant model, we also observed that the GT + TT genotype increased the risk for MDA (p = 0.015, OR = 1.637, 95 % CI = 1.096-2.443). CONCLUSION: The polymorphism rs12266644 of PAX2 might be a risk factor for MDA in Chinese Han females.
Entities:
Keywords:
Association study; Mullerian duct anomalies; PAX2; Single nucleotide polymorphism
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