ABSTRACT
<p><b>OBJECTIVE</b>The aim of this study was to investigate the relationship of the mutations of leptin receptor gene exon 4, exon 6, exon9, and exon20 with the tumorigenesis of breast cancer.</p><p><b>METHODS</b>Genomic DNA was extracted from breast cancer tissues of 155 patients, benign lesions of 56 patients and normal tissues and blood samples from 100 health control subjects. The leptin receptor genes were assayed with polymerase chain reaction (PCR) amplification and direct sequence analysis.</p><p><b>RESULTS</b>Nucleotide substitutions no mutations were found at exon 4, and nucleotide substitutions occurred at codon 1029 in exon 9, no significant difference among the three groups (P = 0.574). The nucleotide substitutions at codon 668 in exon 6 resulted in Gln223Arg polymorphisms. The occurring frequencies of GG, GA, AA in breast cancer, breast benign lesions tissues and health tissues control group were 70.9% and 17.4%, 12.3%; 80.4%, 14.3% and 5.4%; and 81.0%, 16.0%, and 3.0%, respectively. Alleles of G and A in the three groups were 79.1% and 20.8%, 87.5% and 12.5%, and 89.0% and 11.0%, respectively. Compared the Gln223Arg genotype with the three allele groups, there were significant differences (χ(2) = 16.11, P < 0.005 and χ(2) = 11.41, P < 0.01), respectively. The nucleotide substitutions at codon 3057 in exon 20 resulted in Pro1019Pro polymorphisms. The occurrence frequencies of GG, GA, AA in the breast cancer, benign disease and health control groups were 11.6%, 30.3% and 56.1%; 32.1%, 44.0% and 28.5%; and 32.0%, 45.0% And 23.0%, respectively. Alleles of G and A in the three groups were 26.8% and 73.2%, 51.8% and 48.2%, and 54.5% and 45.5%, respectively. There are significant differences among the three groups (χ(2) = 6.56, P < 0.03 and χ(2) = 5.45, P < 0.05), respectively. Nucleotide substitutions occurred at relatively high frequencies at exon 6 and exon 20 in obese and overweight breast cancer patients compared with those in normal weight breast cancer patients, there were significant differences (P < 0.05 and P < 0.01).</p><p><b>CONCLUSIONS</b>Our findings show that there is no relationship between the variations of leptin receptor gene exon 9 and tumorigenesis of breast cancer. The variation rate of leptin receptor gene exon 6 and exon 20 are significantly increased in the obese and overweight breast cancer patients.</p>
Subject(s)
Adult , Aged , Female , Humans , Middle Aged , Adenoma , Genetics , Breast , Pathology , Breast Neoplasms , Genetics , Carcinoma , Genetics , Exons , Gene Frequency , Hyperplasia , Genetics , Obesity , Genetics , Point Mutation , Receptors, Leptin , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To evaluate the association between serum level of leptin and leptin receptor gene (LEPR) polymorphism and patients with breast cancer.</p><p><b>METHODS</b>LEPR G1n223Arg polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in 94 patients with breast cancer and 128 healthy controls. The level of leptin were analyzed by enzyme linked immunosorbent assay.</p><p><b>RESULTS</b>In univariate regression analyses, we found serum level of leptin and LEPR Gin223Arg genotype polymorphism were significantly higrer than those of the controls (P < 0.05-0.001, respectively). Through multivariable analyses, we found that increased risk estimates for breast cancer were among those with leptin level (OR = 1.53, 95% CI: 1.13-2.07, P = 0.006), LEPR Gin223Arg genotype (OR = 4.87, 95%CI:1.30-18.22, P = 0.019), WHR (OR = 3.68, 95% CI: 1.34-10.11, P = 0.011).</p><p><b>CONCLUSION</b>Results from this study suggested that LEPR Gln233Agr polymorphism, the elevated WHR and serum level of leptin might be correlated with increased risk of breast cancer.</p>
Subject(s)
Female , Humans , Breast Neoplasms , Blood , Genetics , Enzyme-Linked Immunosorbent Assay , Genetic Predisposition to Disease , Leptin , Blood , Lipids , Blood , Polymorphism, Genetic , Receptors, Leptin , Genetics , RiskABSTRACT
<p><b>OBJECTIVE</b>To evaluate the urinary nuclear matrix protein (NMP22) as an adjuvant diagnostic index for transitional cell carcinoma of urinary tract and monitoring the state of disease.</p><p><b>METHODS</b>Urinary samples were collected from 262 patients with transitional cell carcinoma, 198 non-transitional cell carcinoma of the urinary tract and 65 patients with benign diseases. Urinary NMP22 concentration was determined through enzyme linked immunosorbent assay (ELISA).</p><p><b>RESULTS</b>The urinary NMP22 concentration had significant difference among the three groups (Kruskal Wallis, chi(2) = 197.17 P < 0.001). The detection sensitivity and specificity of urinary NMP22 to transitional cell carcinoma were 71.37% and 87.69% respectively. The NMP22 concentration showed significant difference among three groups divided according to the pathological grade (Kruskal-Wallis test, chi(2) = 34.06 P < 0.01). The NMP22 concentration was significant lower in the recovery patients after the operation than the peoples of pre-operation and recurrence (Kruskal-Wallis test, chi(2) = 37.53, P < 0.001).</p><p><b>CONCLUSION</b>MP22 is a helpful tumor marker for the diagnosis of transitional cell carcinoma and monitoring the state of illness with increased efficacy.</p>