ABSTRACT
The present study analyzed the association of tumor protein p53 (TP53) Pro72Arg polymorphism with esophageal squamous cell carcinoma (ESCC) in the Mongolian population of Tongliao (Inner Mongolia, China). Restriction fragment length polymorphism-polymerase chain reaction was used to detect the genotype distribution of TP53 Pro72Arg polymorphism in 100 patients with ESCC and 50 healthy controls from the same population. Besides, the correlation between ESCC in Mongolian patients and various factors such as age, sex, cigarette smoking and alcohol consumption was analyzed. χ2 test revealed significant associations between alcohol consumption (P=0.00006) and cigarette smoking (P=0.00076) and ESCC in Mongolian patients. Notably, the Pro72 allele was significantly enriched in patients with ESCC compared with its abundance in the healthy control group, and the genotype of Pro/Arg on p53 codon 72 was confirmed to exhibit a significant correlation with ESCC in Mongolian patients. The present study demonstrated that alcohol drinking and cigarette smoking were risk factors for ESCC in the Mongolian population. Mongolian patients who carry the partocular genotype of Arg/Pro or Pro/Pro on p53 codon 72 may be more likely to develop ESCC. Compared with the p53 codon 72 genotype Arg/Arg, the TP53 Pro72 allele increased the risk of ESCC in Mongolian patients by 1.659-fold.
ABSTRACT
The large scale genome wide association studies (GWAS) have identified approximately 80 single nucleotide polymorphisms (SNPs) conferring susceptibility to type 2 diabetes (T2D). However, most of these loci have not been replicated in diverse populations and much genetic heterogeneity has been observed across ethnic groups. We tested 28 SNPs previously found to be associated with T2D by GWAS in a Mongolian sample of Northern China (497 diagnosed with T2D and 469 controls) for association with T2D and diabetes related quantitative traits. We replicated T2D association of 11 SNPs, namely, rs7578326 (IRS1), rs1531343 (HMGA2), rs8042680 (PRC1), rs7578597 (THADA), rs1333051 (CDKN2), rs6723108 (TMEM163), rs163182 and rs2237897 (KCNQ1), rs1387153 (MTNR1B), rs243021 (BCL11A), and rs10229583 (PAX4) in our sample. Further, we showed that risk allele of the strongest T2D associated SNP in our sample, rs757832 (IRS1), is associated with increased level of TG. We observed substantial difference of T2D risk allele frequency between the Mongolian sample and the 1000G Caucasian sample for a few SNPs, including rs6723108 (TMEM163) whose risk allele reaches near fixation in the Mongolian sample. Further study of genetic architecture of these variants in susceptibility of T2D is needed to understand the role of these variants in heterogeneous populations.
