Background Breast cancer represents the cancer with the highest incidence and mortality among women in the world, and its pathogenesis is complex. Single nucleotide polymorphisms (SNPs) are one of the factors that influence the risk of breast cancer. The present study aimed to investigate the effects of LOC105377871 and CASC16 polymorphisms on the risk of breast cancer in the northwest Chinese Han population. Methods We selected 503 breast cancer patients and 503 healthy controls for the present study. Genotyping was performed using the Agena MassARRAY system (Agenea Bioscience, San Diego, CA, USA) and we evaluated the association between SNPs (rs17530068 and rs4784227) and the risk of breast cancer in four genetic models. Unconditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results It was found that the rs17530068 increased the breast cancer risk in log‐additive model (p = 0.047, OR = 1.23, 95% CI = 1.00–1.50). After stratification, the “T” allele of rs4784227 increased the risk of lymph node metastasis in breast cancer patients (allele: p = 0.025, OR = 1.51, 95% CI = 1.05–2.17; codominant model: p = 0.008, OR = 1.99, 95% CI = 1.20–3.31; dominant model: p = 0.008, OR = 1.94, 95% CI = 1.19–3.16; log‐additive model: p = 0.023, OR = 1.52, 95% CI = 1.06–2.19). Conclusions The results of the present study show that, in the northwest Chinese Han population, SNP rs17530068 (LOC105377871) increases the risk of breast cancer and SNP rs4784227 (CASC16) promotes lymph node metastasis in breast cancer patients.

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Background In China, lung cancer is also the most commonly diagnosed cancer with a lower 5‐year survival rate, leading to high social burdens. Recently, many studies highlighted the importance of inflammation in the initiation and progression of cancer. The goal of this study was to investigate the association between interleukin‐4 (IL‐4, OMIM#147780) single nucleotide polymorphisms (SNPs) and lung cancer susceptibility. Methods A case‐control study was conducted in a Chinese population including 199 male patients with lung cancer and 266 healthy men. Six SNPs selected from the HapMap database were genotyped using Agena MassARRAY. Genetic models and haplotype analyses were utilized to evaluate the association between SNPs and lung cancer risk. Results In our findings, rs2243250 was associated with a decreased lung cancer risk under the log‐additive model (odds ratio, OR = 0.71, 95% confidence interval, CI = 0.51–0.97, p = 0.030), and the G/G genotype of rs2227284 conferred a negative effect; the risk of lung cancer under the codominant (OR = 0.19, 95% CI = 0.04–0.87, p = 0.040) and recessive models (OR = 0.20, 95% CI = 0.04–0.88, p = 0.012) after adjusted by age. Conclusions These data indicated potential associations between IL‐4 polymorphisms and lung cancer susceptibility. That may help to improve the understanding of the relationship between inflammation and lung cancer in the future.

Background: Interleukin (IL)-1β stimulates the proliferation and differentiation of osteoclast precursors into mature osteoclasts. IL-1B polymorphisms may influence the gene and protein expression of IL-1β. The present study aimed to investigate the association of IL-1B variants (rs2853550, rs1143643, rs3136558, rs1143630, rs1143627, rs16944 and rs1143623) and their interaction with osteoporosis risk among the northwestern Chinese Han population. Methods: AN Agena MassARRAY system (Agena, San Diego, CA, USA) was employed for genotyping in 594 osteoporosis patients and 599 healthy controls. The possible association between IL-1B polymorphisms and risks of osteoporosis development was identified with odds ratios (OR) and 95% confidence intervals (CI) using logistic regression models. Haplotype analysis and multifactor dimension reduction analysis were used to explore the potential association between combined single nucleotide polymorphisms (SNPs) and osteoporosis risk. Results: The AA genotype of rs2853550 was a protective factor for osteoporosis occurrence (OR = 0.11, p = 0.038), whereas rs16944 (OR = 1.19, p = 0.037) and rs1143623 (OR = 1.21, p = 0.025) conferred an increased risk of osteoporosis. Moreover, rs1143627, rs16944 and rs1143623 were associated with an elevated susceptibility to osteoporosis, especially in females and individuals aged > 60 years or with a body mass index > 24 kg/m 2. Haplotype G rs1143630 A rs1143627 G rs16944 was a risk factor of osteoporosis occurrence (OR = 1.20, p = 0.032). The best model of SNP-SNP analysis was a four-locus combination of rs1143643, rs3136558, rs1143630 and rs1143623 (testing accuracy = 0.5623). Conclusions: IL-1B polymorphisms and haplotype G rs1143630 A rs1143627 G rs16944 might contribute to susceptibility to osteoporosis. The SNP-SNP interaction of polymorphisms in IL-1B revealed the accumulated effect on osteoporosis risk.

Background Recently, ADCY9 has been found to be highly expressed in colon cancer, and high ADCY9 expressionis a poor prognostic factor of colon cancer. However, no study has reported on the relationship between single nucleotide polymorphisms (SNPs) of ADCY9 and colorectal cancer risk in the Chinese Han population. Methods To evaluate the association between four ADCY9 SNPs and colorectal cancer risk, we performed a case–control study including 511 colorectal cancer patients and 511 healthy controls. SNPs were genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). The distributions of alleles and genotypes frequencies between the case and control groups were compared using chi‐squared. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression adjusted for age and gender to assess the association between SNPs and colorectal cancer risk. Results The overall analysis found that rs2230742 was associated with an increased risk of colorectal cancer (AA versus GG: OR = 3.54, 95% CI = 1.16–10.86, p = 0.027; recessive model: OR = 3.55, 95% CI = 1.16–10.85, p = 0.027). Stratification analysis showed that rs2230742 was associated with an increased rectal cancer risk; rs11076810 was associated with a reduced colorectal cancer risk for age > 59 years. No association was observed between other two SNPs and colorectal cancer risk. Conclusions Our findings suggest that ADCY9 polymorphisms (rs2230742 and rs11076810) have an effect on colorectal cancer risk in the Chinese Han population. Future association and functional studies are required to confirm our findings and explore the mechanism of ADCY2 in colorectal cancer.

Lumbar disc herniation (LDH) is a relatively common spinal disease, but its pathogenesis is still unknown. Numerous studies have shown that LDH is closely correlated with inflammation, and it has been found to be related to some single nucleotide polymorphisms (SNPs). Our purpose is to explore the correlation between gene polymorphisms of GSDMC and LDH risk, which is of great significance for the study of the pathogenesis of LDH. DNA was extracted from 508 LDH patients and 508 controls. We select SNPs with minor allele frequency >5% in GSDMC gene from 1,000 genome project (http://www.internationalgenome.org/). Then, genotyping was performed using Agena MassARRAY. We used unconditional logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (CIs). The haplotype construction and analysis in GSDMC were applied to detect the association. We identified that rs77681114 in the GSDMC gene was significantly associated with a decreased risk of LDH in the alleles model (OR = 0.81, 95% CI = 0.66–0.99, p = .049) and the log‐additive model (OR = 0.81, 95% CI = 0.65–0.99, p = .049) adjusted by age and gender. The haplotype “AG” constructed by rs77681114 and rs4285452 (OR = 1.24, 95% CI = 1.01–1.53, p = .039) was associated with increased risk of LDH. After age and gender stratification, rs77681114 protected LDH risk at age 49 or older in allelic model (p = .010), co‐dominant model (p = .006), dominant model (p = .029), recessive model (p = .011) and log‐additive model (p = .005). Rs77681114 had protective effect on female LDH risk in both co‐dominant models (p = .033) and recessive models (p = .043). These studies indicated that genetic polymorphisms of GSDMC can relatively reduce the risk of LDH.

Background: Lung cancer is one of the leading cause of cancer-related death in the world. Recently, many clinical researches have reported that COL6A3 had strong role in many diseases. The aim of this study was to evaluate the association between single nucleotide polymorphisms (SNPs) in COL6A3 and lung cancer susceptibility. Method: Eight variants in COL6A3 were genotyped in a Chinese Han population including 510 cases and 495 controls using Agena MassARRAY. Genetic models and haplotype analyses were used to calculate the association between COL6A3 SNPs and lung cancer risk. And we assessed the relative risk by the odds ratio (OR) and 95% confidence interval (CI).Results: In our results, we observed that rs115510139 was linked to an increased risk of lung cancer in the codominant (adjusted OR = 1.61, 95%CI: 1.14-2.27, p = 0.007), dominant (adjusted OR = 1.36, 95%CI: 1.02-1.83, p = 0.037), recessive (adjusted OR = 1.41, 95%CI: 1.07-1.85, p = 0.015), and log-additive (adjusted OR = 1.27, 95%CI: 1.07-1.51, p = 0.006) models. After gender stratification analysis, we found that rs115510139, rs3736341 and rs12052971 were significant in males but were non-significant in females. Rs115510139 also can increase the risk of lung cancer in the population of age less than 61 years. When analyzed for the association with lung squamous carcinoma, rs13032404, rs115510139 and rs3736341 were related to the risk of lung cancer. Conclusions: Our findings indicated potential associations between COL6A3 polymorphisms and lung cancer risk, which may contribute to the identification of lung cancer patients in a Chinese population.

Background Thyroid carcinoma accounts for a large part of endocrine neoplasia and the relationship between inflammation and thyroid cancer has been validated previously. Two known receptors of interleukin (IL)‐1, IL‐1 receptor 1 (IL1R1) and IL‐1 receptor 2 (IL1R2), are implicated in numerous inflammatory responses. The present study aimed to assess the genetic polymorphisms of IL1R1 and IL1R2 with respect to thyroid cancer in the Chinese Han population. Methods Eleven single nucleotide polymorphisms of IL1R1 and IL1R2 were identified among 241 thyroid cancer patients and 463 controls using the Agena MassARRY method (http://www.internationalgenome.org/). Genetic models and haplotype analysis were carried out to evaluate the significant links between the variants and the risk of thyroid cancer. Results Logistic regression analyses revealed significant associations of rs3917225, rs2072472 and rs11674595 with susceptibility to thyroid cancer. Haplotype analysis presented two blocks of IL1R2, whereas no statistical significance existed. Conclusions These findings suggested that rs3917225, rs2072472 and rs11674595 are risk factors associated with the development of thyroid carcinoma in Chinese Han people.