ABSTRACT
OBJECTIVE: To study the gene polymorphisms of position --2123 C/G,--1969 G/A,--1817 T/C in promoter region and of Thr715Pro in exon thirteenth of P-selectin in the Chinese Han of Chengdu and Thai populations, and simultaneously to compare distributions of genotype and allelic frequencies of P-selectins among different races. Methods The genotypes and allele frequencies of the P-selectin base --2123 C/G,--1969 G/A,-1817 T/C and amino acid Thr715Pro were detected by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) to 120 healthy Chinese Han of Chengdu and 110 Thai population. RESULTS: There were no significant differences in the genotype and allele distribution of--2123 C/G,--1969 G/A,--1817 T/C polymorphisms for the P-selectin gene between Chinese Han of Chengdu and Thai populations (P > 0.05), in which compared with England and American, the distribution of P-selectin genotype and allele had significantly differences among ethnics (P < 0.001). No polymorphism of Thr715Pro was found in this study. Conclusion In Chinese Han of Chengdu and Thai populations the polymorphisms exist at base position--2123 C/G,--1969 G/A and --1817 T/C in promoter region of P-selectin. There are no significant differences in the genotype and allele distribution of the P-selectin gene polymorphisms between Chinese Han of Chengdu and Thai populations, but significantly different distribution of P-selectin gene polymorphisms occur among ethnics.
Subject(s)
Asian People/genetics , P-Selectin/genetics , Polymorphism, Restriction Fragment Length , China/ethnology , Gene Frequency , Genotype , Humans , Polymerase Chain Reaction , Thailand/ethnologyABSTRACT
OBJECTIVE: To investigate the distribution of genotype and allele frequencies of the genetic polymorphisms of IFN-gamma and IL-8 in patients with nasopharyngeal carcinoma (NPC) and analyze the relationship between the genetic polymorphisms of IFN-gamma and IL-8 and NPC. METHODS: A total of 105 NPC patients and 109 healthy people were recruited in this study. The polymorphism of IL-8-251 locus was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The IFN-gamma CA-repeat polymorphism was determined by polymerase chain reaction and polyacrylamide gel electrophoresis with silver staining. The relationship between the polymorphisms of the two loci and NPC was analyzed. RESULTS: There was no statistically significant difference in IL-8-251(A/T) genotype and allele frequencies between the NPC patients and the healthy people (P < 0.05). The frequency of IFN-gamma 13 times CA repeats in the NPC patients was significantly lower than that of the healthy people (chi2 = 5.878, P = 0.015). A significant difference in the distribution of the genotype of (CA)13+ / (CA)13+, (CA)13+ / (CA)13- and (CA)13- / (CA)13- between the NPC patients and the healthy people was also found (chi2 = 15.181, P = 0.001). CONCLUSION: The IFN-gamma 13 times CA-repeat polymorphism is associated with the onset of NPC. But no association between the polymorphism of IL-8-251 (A/T) locus and NPC is evident. The IFN-gamma CA-repeat polymorphism might play an important role in determining the susceptibility to nasopharyngeal carcinoma.
Subject(s)
Carcinoma/genetics , Interferon-gamma/genetics , Interleukin-8/genetics , Nasopharyngeal Neoplasms/genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Polymerase Chain Reaction , Polymorphism, Restriction Fragment LengthABSTRACT
BACKGROUND: Nasopharyngeal cancer (NPC) is multifactorial, and the genetic background may be a crucial etiologic factor. Transforming growth factor-beta1 (TGF-beta1) is a multifunctional cytokine, it promotes tumor growth and metastasis in later stages of phase of cancer development. Variations in the DNA sequence in the TGF-beta1 gene may lead to altered TGF-beta1 production and/or activity, and so this can modulate an individual's susceptibility to NPC. To test this hypothesis, we investigated the association of the TGF-beta1 polymorphisms and their haplotypes with the risk of NPC in a Chinese population. METHODS: We analyzed 2 single nucleotide polymorphisms (SNPs) of TGF-beta1 gene promoter -509C/T and 869T/C (Leu10Pro) at exon one in 108 patients with NPC and 120 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy. RESULTS: There were significant differences in the genotype and allele distribution of -509C/T and 869T/C (Leu10Pro) polymorphisms of the TGF-beta1 gene among cases and controls. The -509T and 869C alleles carriers were associated with a significantly increased risk of NPC as compared with the non-carriers (OR=1.64, 95% CI, 1.13-2.39, P=0.009 and OR=1.70, 95% CI, 1.17-2.46, P=0.006, respectively). Consistent with the results of the genotyping analyses, the -509T/869C haplotype was associated with a significantly increased risk of NPC as compared with the -509C/869T haplotype (OR=1.68; 95% CI, 1.14-2.48; P=0.009). CONCLUSION: TGF-beta1 -509C/T and 869T/C polymorphisms, and their haplotypes are significantly associated with the risk of NPC. Our data suggests that TGF-beta1 -509C/T and 869T/C polymorphisms could be used as genetic susceptibility markers of the NPC.
