The study was aimed to explore whether the TERT and TERC polymorphisms are associated with the lung cancer risk. Five TERC and TERT polymorphisms were genotyped from 554 lung cancer patients and 603 healthy controls. We used χ2 test, genetic model, linkage disequilibrium (LD) and haplotype analyses to evaluate the association between the polymorphisms and lung cancer risk. We found that the allele “C” of rs10936599 (TERC) and the allele “T” of rs10069690 (TERT) were associated with increased risk of lung cancer (OR = 1.32, 95% CI: 1.12-1.55, P = 0.001; OR = 1.41, 95% CI: 1.14-1.76, P = 0.002, respectively). The genotype of “CC” of rs10936599, genotype “CT” of rs10069690 and genotype “GG and “AG” of rs2853677 were also associated with increased the risk of lung cancer. In addition, rs10936599 under the dominant, recessive and log-additive models; rs10069690 under the dominant, overdominant and log-additive models; rs2853677 under the dominant and log-additive models were found to be associated with increased lung cancer risk. The SNP rs2242652 was found to be associated with an increased lung cancer risk under the dominant and overdominant models without adjustment. The haplotype “TA” of TERT was also associated with an increased risk of lung cancer. Our study indicated that rs10936599 (TERC) and rs10069690, rs2242652 and rs2853677 in TERT and haplotype “TA” of TERT were revealed as risk factors of lung cancer in a Chinese Han population. However, it required to verify our result and investigate the function genetic variants and mechanism of lung cancer.
Ankylosing spondylitis (AS) is an extreme form of inflammatory arthritis which always leads to bony fusion of vertebral and chronic pain of back. A lot of genes including interleukin, matrix metalloproteinases (MMPs), and endoplasmic reticulum aminopeptidase were found associated with AS. MMP family members were involved in the autoimmune disease and orthopedic diseases such as rheumatoid arthritis and osteoarthritis, while few studies concentrated on the correlation between single-nucleotide polymorphisms (SNPs) in MMP and AS. In addition, there is no report on the relationship between MMP-8 and AS. To investigate the association between SNPs in MMP-8 and AS, we recruited 268 patients with AS and 654 healthy people to conduct a case-control study. Five SNPs including rs3740938, rs2012390, rs1940475, rs11225394, and rs11225395 of MMP-8 gene were genotyped. It was found rs3740938 of MMP-8 was associated with an increased risk of AS under the dominant model and additive model after adjustment for gender and age by performing logistic regression analysis (odds ratio [OR] = 1.49, 95% confidence interval [CI] = 1.02-2.18, P = .038; OR = 1.37, 95% CI = 1.01-1.87, P = .042, respectively). Moreover, haplotype "GGTCA" was associated with an increased risk of AS without adjustment for age and gender (OR = 1.75, 95% CI = 1.05-2.92, P = .032), while no positive result was found after adjustment for age and gender. Based on our results, our study indicates significant association between SNPs of MMP-8 and AS risk in a Chinese Han population and these results provide the first evidence that MMP-8 is correlated with AS.
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