1.
Gender specific effect of LIPC C-514T polymorphism on obesity and relationship with plasma lipid levels in Chinese children.
Wang, H, Zhang, D, Ling, J, Lu, W, Zhang, S, Zhu, Y, Lai, M
Journal of cellular and molecular medicine. 2015;(9):2296-306
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Abstract
Hepatic lipase (LIPC) is a key rate-limiting enzyme in lipoprotein catabolism pathways involved in the development of obesity. The C-514T polymorphism in the promoter region is associated with decreased LIPC activity. We performed a case-controlled study (850 obese children and 2119 controls) and evaluated the association between LIPC C-514T polymorphism, obesity and plasma lipid profile in Chinese children and adolescents. Additionally, we conducted a meta-analysis of all results from published studies as well as our own data. A significant association between the polymorphism and obesity is observed in boys (P = 0.042), but not in girls. And we observed a significant relationship of the polymorphism with total cholesterol (TC) and high density lipoprotein cholesterol (HDL-C) independent of obesity in boys. The T allele carriers have higher levels of low density lipoprotein cholesterol (LDL-C) in obese boys, and triglyceride (TG), TC and LDL-C in non-obese girls (all P < 0.05). In the meta-analysis, under dominant model the T allele increased body mass index (BMI) level in boys, while it decreased BMI in girls, and increased the levels of TC both in the overall and subgroups, TG and HDL-C in the overall and boys, and LDL-C in the overall (all P < 0.05). Our results suggest that the T allele might carry an increased risk of obesity in Chinese boys. The meta-analysis suggests that T allele acts as a risk allele for higher BMI levels in male childhood, while it is a protective allele in female childhood. And the polymorphism is associated with the levels of plasma lipids, which may be modulated by obesity and gender.
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Association of the G2014G genotype in estrogen receptor 1 gene with failure of the mifepristone-induced termination of early pregnancy.
Wang, N, Zhao, H, Han, W, He, B, Zhang, S, Wang, J
The Tohoku journal of experimental medicine. 2010;(1):77-82
Abstract
Mifepristone is a synthetic steroid compound that has been applied to terminate early pregnancy for many years. However, about 15% of the women undergo failure in termination of early pregnancy, the causes of which remain largely unknown. We herein selected estrogen receptor 1 gene (ESR1) as a candidate gene to determine whether single nuclear polymorphisms (SNPs) in ESR1 were associated with the failure of mifepristone-induce abortion. The subjects recruited were 30 subjects that failed to abort and 60 subjects with a successful medical abortion. Three SNPs, T-397C (rs2234693), C325G (rs1801132), and G2014A (rs2228480), were analyzed by PCR, followed by restriction fragment length polymorphism (RFLP) analysis. The latter two polymorphic sites are located in the protein-coding region, but do not alter the amino acid. Among the three SNPs examined, we found the significant role of the G2014A polymorphism; namely, the distribution of the GG, AG and AA genotypes was different between the failure group and the success group. The frequency of the GG (G2014G) genotype was higher in the failure group (86.7%) than that in the success group (60.0%) (p = 0.030), while the frequency of the G2014A heterozygote was lower in the failure group (6.7%) than in the success group (28.3%) (p = 0.013). Moreover, the frequency of the G allele was higher in the failure group (90%) and lower in the success group (10.0%) (p = 0.013). These results indicate that the GG genotype of the G2014A polymorphism is associated with the risk of failure in the mifepristone-induced abortion.