1.Relationship between folic acid metabolism-related enzyme gene polymorphism and susceptibility of abnormal pregnancy
Qianxi LI ; Pingzhi WU ; Linlin HE ; Dexin LV ; Jinjian FU
Chongqing Medicine 2015;(10):1330-1333
Objective To analyze the relationship between methylenetetrahydrofolate reductase (MTHFR)C677T,A1298C and methionine synthase reductase(MTRR)gene polymorphism with abnormal pregnancy history.Methods 549 normal women (control group)and 300 women with the abnormal pregnancy history(observation group)were taken as the subjects by adopting the case control research method.The oral mucosa epithelial cells were collected for extracting genomic DNA.The MTHFR and MTRR gene polymorphisms were detected by the gene sequencing method.Results The distribution frequency of MTHFR 677TT genotype in the abnormal pregnancy group was significantly increased compared with the control group (10.00% vs.3.46%,χ2 =15.25,P <0.01);the distribution frequency of MTHFR-1298CC genotype in the abnormal pregnancy group was significantly in-creased compared with the control group (11.00 vs.4.01%,χ2 =15.66,P <0.01);the distribution frequency of MTRR A66G gen-otype had no statistical difference between the two groups(χ2 =3.02,P =0.082).The interactive analysis of 2 genes indicated that simultaneous carrying the MTHFR A1298C mutation site and MTRR A66G mutation site increased the possibility of abnormal pregnancy occurrence (OR=1.52,P =0.011).Conclusion MTHFR C677T and A1298C have a certain correlation with female ab-normal pregnancy occurrence.
2.Study of genome-wide association study identified lipid-associated genes and susceptibility to coronary heart disease
Li ZHOU ; Qianxi FU ; Long WANG ; Zhaohui ZHONG ; Ge LI ; Xiaojun TANG
The Journal of Practical Medicine 2014;(11):1719-1722
Objective To explore the relation of newly genome-wide association study (GWAS) identified lipid-associated genes by euramerican white and coronary heart disease ( CHD ) susceptibility in Chinese Han population. Methods One thousand patients with CHD were enrolled according to WHO criteria. 1000 age-and sex-matched controls were included. Single-nucleotide polymorphisms (SNPs) were detected by Taqman technique. Results Two novel SNPs (rs599839 in SORT1 region and rs16996148 in NCAN region) were significantly associated with CHD risk in Chinese Han population. Compared to AA genotype of rs599839, subjects with AG genotype of rs599839 (OR=0.64, 95%CI=0.48~0.85, P=0.002 and OR=0.67, 95%CI=0.52~0.91, P=0.008, respectively). Compared to GG genotype of rs16996148, subjects with GT genotype were associated with significantly decreased risk of CHD(OR=0.67, 95%CI=0.52~0.91, P=0.008). Two another SNPs (rs12695382 in B4GALT4 region and rs2254287 in B3GALT4 region) were not significantly associated with CHD in Chinese Han population. Conclusions Two novel SNPs (rs599839 and rs16996148) at newly identified lipid-associated loci were significantly associated with CHD susceptibility in Chinese Han population.