Influence of CMTM8 polymorphisms on lung cancer susceptibility in the Chinese Han population.

BACKGROUND: Lung cancer is the leading cause of cancer-related mortality worldwide and CMTM8 is a potential tumor suppressor gene, which is down-regulated in lung cancer. The objective of this research was to assess the association of CMTM8 genetic polymorphisms with lung cancer risk. METHODS: To evaluate the correlation between CMTM8 polymorphisms and lung cancer risk, Agena MassArray platform was used for genotype determination among 509 lung cancer patients and 506 controls. Multiple genetic models, stratification analysis and Haploview analysis were used by calculating odds ratio (OR) and 95% confidence intervals (CIs). RESULTS: Significant associations were detected between CMTM8 rs6771238 and an increased lung cancer risk in codominant (adjusted OR = 1.57, 95% CI: 1.01-2.42, P = 0.044) and dominant (adjusted OR = 1.54, 95% CI: 1.01-2.36, P = 0.047) models. After sex stratification analysis, we observed that rs6771238 was related to an increased risk of lung squamous cell carcinoma, while rs6771238 was associated with an increased risk of lung adenocarcinoma. Rs9835916 was linked to increased risk of lymph node metastasis in lung cancer patients. CONCLUSION: Our study first reported that CMTM8 polymorphisms were a risk factor for lung cancer, which suggested the potential roles of CMTM8 in the development of lung cancer.

Assessment of ADCY9 polymorphisms and colorectal cancer risk in the Chinese Han population.

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.

RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation development in the Chinese Han population.

BACKGROUND: Lumbar disc herniation (LDH) places a serious burden on the daily lives and socioeconomics of people. Although the pathogenesis of LDH is complex, genetic factors such as single nucleotide polymorphisms (SNPs) may affect the risk of developing LDH. In the present study, we aimed to elucidate the effect of RAB40C SNPs on the risk of LDH in the Chinese Han population. METHODS: We investigated 508 LDH cases and 508 healthy controls for this case-control study. Three tag SNPs in RAB40C were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). After adjusting for age and gender, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression. RESULTS: In the allele model, we found rs62030917 and rs2269556 in RAB40C with a minor G allele significantly increased the risk of LDH (rs62030917: OR = 1.23, 95% CI = 1.00-1.50, p = 0.046; rs2269556: OR = 1.21, 95% CI = 1.02-1.45, p = 0.033). In genetic model analysis, rs2269556 was associated with an increased risk of LDH under both codominant (OR = 1.49, 95% CI = 1.03-2.15, p = 0.035) and log-additive models (OR = 1.21, 95% CI = 1.01-1.45, p = 0.035). rs62030917 of RAB40C was associated with an increased risk of LDH under codominant, recessive and log-additive models (p < 0.05) only among individuals younger than 49 years after stratification by age. CONCLUSIONS: For the first time, our results suggest that rs62030917 and rs2269556 in the RAB40C gene influence genetic susceptibility to LDH.

Genetic variation of pharmacogenomic VIP variants in Zhuang nationality of southern China.

Drug gene polymorphisms are strongly associated with disease. Previous studies have shown that the frequency of drug genes varies in different populations. At present, there are no reports about the polymorphism of the drug genome in the Zhuang population in southern China. This study conducted a pharmacogenomics study on the Zhuang population in southern China. Therefore, we conducted genotyping on 105 Zhuang samples, and compared the genotyping results with those of other 11 ethnic groups after statistical analysis. Our results show that, compared with the 11 populations in the HapMap data set, the differences between the CYP2E1 rs2070676 and CYP2D6 rs1065852 of the Zhuang nationality are the largest. This study fills in the blank of the drug genome information of the Zhuang nationality in southern China. The two sites of Rs2070676 (CYP2E1) and rs1065852 (CYP2D6) provide a reliable basis for the prediction of the efficacy of certain drugs. Its main purpose is to provide theoretical basis for safe drug use in the Zhuang region of southern China.

Association of ST6GAL1 and CYP19A1 polymorphisms in the 3'-UTR with astrocytoma risk and prognosis in a Chinese Han population.

BACKGROUND: Astrocytoma is a common type of central nervous system tumor. In this study, we investigated the correlation between ST6GAL1 and CYP19A1 polymorphisms and the risk and prognosis of astrocytoma. METHODS: A total of 365 astrocytoma patients and 379 healthy controls were genotyped using the Agena MassARRAY system. The correlation between ST6GAL1 and CYP19A1 variants and astrocytoma risk was calculated using logistic regression. The survival rate of patients with astrocytoma was analyzed to evaluate prognosis. RESULTS: We found that the ST6GAL1-rs2239611 significantly decreased the risk of astrocytoma in the codominant model (p = 0.044) and dominant model (p = 0.049). In stratified analyses, CYP19A1-rs2255192 might be associated with a higher risk of astrocytoma among the low-grade subgroup under recessive (p = 0.034) and additive (p = 0.030) models. However, CYP19A1-rs4646 had a risk-decreasing effect on the high-grade subgroup in the codominant model (p = 0.044). The results of Cox regression analysis showed that the CYP19A1-rs2239611 and -rs1042757 polymorphisms were significantly correlated with the prognosis of astrocytoma. CONCLUSION: Our results suggest that ST6GAL1 and CYP19A1 genes may be a potential biomarker of genetic susceptibility and prognosis to astrocytoma in the Chinese Han population.

Variants in multiple genes are associated with esophageal cancer risk in a Chinese Han population: A case-control study.

BACKGROUND: The present study investigated whether 16 single nucleotide polymorphisms (SNPs), selected based on minor allele frequencies, Hardy-Weinberg equilibrium and reported SNPs related to the susceptibility of certain gastrointestinal cancer, were associated with esophageal cancer (EC) risk in a Chinese Han population. METHODS: We genotyped 16 SNPs among 506 cases and 507 controls using Agena MassARRAY (Agena, San Diego, CA, USA). The association between 16 SNPs and EC risk was analyzed by a chi-squared test and genetic model analysis. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: rs1050631 and the rs6214 were associated with a decreased EC risk (OR = 0.75, p = 0.038; OR = 0.74, p = 0.045, respectively). In stratification analysis, the rs9868873 was associated with an increased EC risk (age < 64 years) (OR = 5.03, p = 0.005). The rs6214 was associated with a decreased EC risk (age < 64 years) (OR = 0.59, p = 0.025). The rs861530 was significantly associated with a decreased EC risk (age ≥ 64 years) (OR = 0.67, p = 0.046). rs1050631 was associated with a decreased EC risk in males (OR = 0.71, p = 0.034). In the stratified analysis of clinical stage III/IV, the rs1800566 was associated with a decreased EC risk (OR = 0.49, p = 0.024). Finally, the rs1052133 was associated with an elevated EC risk in the stratified analysis of lymph node metastasis (OR = 1.73, p = 0.025). CONCLUSIONS: The findings of the present study demonstrate that SLC39A6, IGF1, SEMA5B, XRCC3, NQO1 and OGG1 polymorphisms were associated with EC risk under multiple models.

Evaluation of genetic variants in IL-1B and its interaction with the predisposition of osteoporosis in the northwestern Chinese Han population.

BACKGROUND: Interleukin (IL)-1ß stimulates the proliferation and differentiation of osteoclast precursors into mature osteoclasts. IL-1B polymorphisms may influence the gene and protein expression of IL-1ß. 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/m2 . Haplotype Grs1143630 Ars1143627 Grs16944 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 Grs1143630 Ars1143627 Grs16944 might contribute to susceptibility to osteoporosis. The SNP-SNP interaction of polymorphisms in IL-1B revealed the accumulated effect on osteoporosis risk.

Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han population.

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.

Association of GSDMC polymorphisms with lumbar disc herniation among Chinese Han population.

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.

Polymorphisms in IL-1A are associated with endometrial cancer susceptibility among Chinese Han population: A case-control study.

Endometrial cancer (EC) is one of the most common malignant tumours of the female genital tract, and it has become a serious malignant disease of the female genital tract in China. Existing researches have revealed the association between polymorphisms of IL-1A and several gynaecological diseases. In this research, we analysed the association between IL-1A gene polymorphisms and endometrial cancer susceptibility in Chinese female population. A total of 81 patients and 198 healthy people were selected. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression. Genetic models and analyses showed that IL-1A rs3783550 TT and rs3783546 CC increased the risk of endometrial cancer under the recessive model, respectively (rs3783550: OR = 2.80, 95%CI: 1.32-5.92, p = .008; rs3783546: OR = 2.79, 95%CI: 1.32-5.89, p = .008). In the recessive model, we also found that both IL-1A rs1609682 and IL-1A rs3783521 increased the risk of endometrial cancer, respectively (rs1609682: OR = 2.79, 95%CI: 1.32-5.89, p = .0081; rs3783521: OR = 2.80, 95%CI: 1.32-5.92, p = .008). Haplotype analysis was performed that did not reveal any significant results. In summary, IL-1A rs3783550, rs3783546, rs1609682 and rs3783521 polymorphisms may be associated with an increased risk of endometrial cancer in Chinese female populations.

The influence of CYP1A1 and CYP1A2 polymorphisms on stroke risk in the Chinese population.

BACKGROUNDS: Stroke is a sudden disorder of cerebral blood circulation. Many studies have illustrated that dyslipidemia, hypertension, diabetes, smoking and excessive drinking are the traditional risk factors for stroke. This study aimed to observe the relationship between CYP1A1 and CYP1A2 variants and stroke risk in the Chinese population. METHODS: Agena MassARRAY Assay was used to genotype four single nucleotide polymorphisms (SNPs) in 477 cases and 480 controls. The chi-square test and logistic-regression analysis were used to explore the relationship between CYP1A1 and CYP1A2 variants and stroke risk. RESULTS: Individuals with CYP1A2 rs762551 C was associated with a lower risk of stroke than that of allele A. Age stratification analysis showed that rs762551 was only observed to be associated with a lower risk of stroke in ≤64ys age group. After gender stratification analysis, a significant association between rs762551 and stroke risk was found in males, but not in females. The four SNPs were found to be correlated with stroke risk in patients with hypertension, coronary heart disease, cerebral infarction and lacunar infarction. CONCLUSION: In this study, the results first showed that CYP1A1 and CYP1A2 variants were associated with stroke risk. Larger and well-designed studies are needed to confirm the results.

Genetic polymorphisms in IL1R1 and IL1R2 are associated with susceptibility to thyroid cancer in the Chinese Han 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.

COL6A3 polymorphisms were associated with lung cancer risk in a Chinese population.

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.

TIMP3 gene polymorphisms and relation to Ankylosing spondylitis susceptibility in Chinese Han population.

BACKGROUND: Ankylosing spondylitis (AS) is a type of chronic progressive inflammatory disease, which often causes significant damage to the patients on the physical function, labour ability and quality of life. The study found that the enzyme system tissue inhibitor of matrix metalloproteinases (TIMPs) was important for the development of AS. The aim of this study was to investigate the association of polymorphisms of TIMP3 gene with AS in Chinese Han population. METHODS: To evaluate the correlation of TIMP3 polymorphisms with AS risk, Agena MassARRAY was used to determine the genotypes of 268 AS patients and 654 controls. The correlation between TIMP3 variants and AS risk was examined by unconditional logistic regression analysis. Haplotype construction and analysis in TIMP3 were also applied to detect the potential association. RESULTS: We identified that rs11547635 in the TIMP3 gene (odds ratio[OR] = 0.79, 95% confidence intervals [CI]: 0.63-0.98, p = .029) was significantly associated with a decreased risk of AS in the alleles model. Rs715572 AG genotype (OR = 1.57, 95% CI: 1.05-2.34, p = .041) was potentially associated with an increased risk of AS, and also rs715572 in the dominant model (OR = 1.61, 95% CI: 1.10-2.36, p = .013) and log-additive model (OR = 1.41, 95% CI: 1.07-1.86, p = .016) adjusted by age and gender were significantly correlated with an increased AS risk. CONCLUSION: These findings suggested that polymorphisms of the TIMP3 gene may be associated with susceptibility to AS.

IL1R1 Polymorphisms are Associated with Lumbar Disc Herniation Risk in the Northwestern Chinese Han Population.

BACKGROUND The aim of this study was to assess the association of single-nucleotide polymorphisms (SNPs) in IL1R1 with the risk of lumbar disc herniation (LDH) in the Han population in northwest China. MATERIAL AND METHODS To estimate the association of IL1R1 polymorphisms with LDH risk, Agena MassARRAY was used to determine the genotypes of 498 LDH patients and 463 controls. The association between IL1R1 variants and LDH risk was examined by logistic regression analysis with adjustments for age and gender. Stratification analysis was observed between gender and age with polymorphisms of IL1R1. Haplotype construction and analysis in IL1R1 were also applied to detect the potential association. RESULTS The mutant homozygous genotype in codominant model (AA versus GG, OR=2.37, 95% CI: 1.08-5.21, P=0.001) and in recessive model (AA versus GG/GA, OR=2.82, 95% CI: 1.30-6.12, P=0.005) of rs956730 were associated with an increased LDH risk in males, while rs956730 heterozygous genotype under codominant model (AG versus GG, OR=0.65, 95% CI: 0.46-0.92, P=0.001) was a protective genotype in males. In addition, the recessive model (CT/CC versus TT, OR=3.43, 95% CI: 1.11-10.57, P=0.020) of rs10490571 was associated with an increased LDH risk among people older than 50 years of age. CONCLUSIONS This study demonstrated that genetic variants in the IL1R1 genes were associated with LDH risk in the Han population of northwestern China.

The contribution of the LOC105371267 and MRPS30-DT genetic polymorphisms to IgA nephropathy in the Chinese Han population.

BACKGROUND: IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Genetic factors are reported to play an essential role in IgAN progression. This study was designed to investigate the association between LOC105371267 and MRPS30-DT and IgAN risk among the Chinese Han population. METHODS: Six SNPs were genotyped. A logistic regression model was used to calculate the effects of the candidate SNPs on IgAN. The SNP-SNP interaction was analyzed using multifactor dimensionality reduction. RESULTS: We observed that only LOC105371267 had a relationship with IgAN. The results indicated an association between the genotype "CC" and a decreased IgAN risk (OR=0.44, P=0.014). The stratification analysis of the patients over 35 years old showed that rs3931698 contributes to IgAN susceptibility in the "GT" genotype (OR=1.78, P=0.038), while rs8044565 showed a significantly decreased risk-effect with IgAN ("T", OR=0.59, P=0.006; "CC", OR=0.15, P=0.015; "CC-CT", OR=0.59, P=0.023; Log-additive, OR=0.56, P=0.005). rs8044565 was correlated with a decreased susceptibility of IgAN in males ("CC", OR=0.27, P=0.006) and in patients with a Lee's grade ≥III ("CC", OR=0.46, P=0.046). We found rs8044565 is related to systolic blood pressure and urinary casts and rs3852740 has a relationship with the serum C3 and hemoglobin levels (P<0.05). CONCLUSION: The present study demonstrated that the SNPs in long non-coding RNAs might be related to IgAN.

Collagen type VI α5 gene variations may predict the risk of lung cancer development in Chinese Han population.

The abundant expression of collagen type VI α5 (COL6A5) exists in lung tissue, and its role in lung cancer is still unknown. We performed a genetic association study with an attempt to detect the relationships between single nucleotide polymorphisms (SNPs) in COL6A5 and lung cancer predisposition in Chinese Han population. We finally selected six tag-SNPs to determine their genotypes among 510 lung cancer patients and 495 healthy controls with the MassARRAY platform. The associations of SNPs and lung cancer risk were estimated by logistic regression method with adjustment for confounding factors. Two available databases were used for gene expression and prognosis analysis. COL6A5 rs13062453, rs1497305, and rs77123808 were significantly associated with the risk of lung cancer in the whole population or stratified subgroups (p < 0.05). Among them, COL6A5 rs13062453 and rs1497305 were also linked to the susceptibility of lung adenocarcinoma. Additionally, rs1497305 was found to be strongly related to the TNM staging under five genetic models (p < 0.05). Results from databases suggested the important role of COL6A5 in lung cancer development. COL6A5 polymorphisms rs13062453, rs1497305 and rs77123808 were associated with lung cancer risk in Chinese Han population. These findings first yield new insight of COL6A5 in lung cancer.

CYP24A1 rs1570669 Variant Has a Protective Effect against Tumors of the Urinary System.

BACKGROUND: Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore the influence of CYP24A1 on the genetic susceptibility of urinary system tumors. MATERIALS AND METHODS: rs6068816, rs2296241, rs2762934, and rs1570669 in 529 patients and 523 controls were genotyped via the Agena MassARRAY. Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals (CIs) of two SNPs with susceptibility of urinary system cancer. Database predicts the expression of the CYP24A1 gene in urinary system cancer. RESULTS: Individuals with the AG genotype of CYP24A1 rs1570669 has a 28% lower risk of developing urinary system tumors (OR = 0.72, 95% CI: 0.56-1.13, p = 0.016) and has a 31% lower risk of developing renal cancer (OR = 0.69, 95% CI: 0.51-0.92, p = 0.012). CONCLUSIONS: CYP24A1 rs1570669 may play an important role in the susceptibility of tumors of the urinary system and renal cancer.

CASC15 polymorphisms are correlated with cervical cancer susceptibility in Chinese women.

BACKGROUND: Cervical cancer is a frequent, common cancer in women, and causes high cancer-related deaths among women in our world. Accumulating studies provided an important evidence for long noncoding RNA (lncRNA) polymorphisms in the susceptibility of various cancer. Here, we recruited 494 cervical cancer cases and 504 unrelated controls to assess the relationship between CASC15 (OMIM# 616610) polymorphisms and cervical cancer susceptibility. METHODS: Agena MassARRAY platform was conducted to genotype CASC15 polymorphisms. Odds ratios (ORs) and 95% confidence intervals (CIs) were analyzed through logistic regression to adjust for confounding factors, such as age and gender. RESULTS: Our study suggested that rs12212674 (NC_000006.12:g.22086845T>A) "A" allele was significantly associated with an increased risk of cervical cancer (OR = 1.31, 95% CI = 1.01-1.69, p = .041). The result was demonstrated in the log-additive model (OR = 1.32, 95% CI = 1.02-1.72, p = .037). After age stratification, we also found that the "TT" genotype of rs4712653 (NC_000006.11:g.22125964T>C) in CASC15 was interaction with a higher cervical cancer risk in subjects aged ≤51 years in the co-dominant model (OR = 2.08, 95% CI = 1.02-4.25, p = .044) and the recessive model (OR = 2.11, 95% CI = 1.05-4.24, p = .036). Whereas no significant correlation was found among other SNPs of CASC15 polymorphisms and the risk of cervical cancer. MDR analysis illustrated that the interaction between rs7740084 (NC_000006.11:g.21727531G>A), rs1555529 (NC_000006.11:g.21691704A>G), and rs12212674 had a certain effect on the progress of cervical cancer. CONCLUSION: Our results revealed a potential interaction between CASC15 polymorphisms and cervical cancer susceptibility. The results provided important insights into CASC15 function in the development of cervical cancer.

CYP2B6 Polymorphisms Are Associated with Ischemic Stroke Risk in a Chinese Han Population.

Genetic factors have been demonstrated to play an important role in the pathology of ischemic stroke (IS). This study was conducted to explore the association between CYP2B6 polymorphisms and IS risk in a Chinese Han population. Four single-nucleotide polymorphisms (SNPs) in CYP2B6 from 477 cases and 495 controls were genotyped using the Agena MassARRAY. The odds ratio (OR) and 95% confidence interval (CI) were calculated under genetic models and haplotype analysis to assess the association between SNPs and IS risk. We found that rs2099361 was associated with an increased IS risk (CC vs. AA: overall: OR = 1.85, 95% CI: 1.16-2.93, P = 0.010; age ≤ 60: OR = 1.94, 95% CI: 1.02-3.70, P = 0.045; male: OR = 2.17, 95% CI: 1.22-3.86, P = 0.009). The GT genotype of rs4803420 was associated with a reduced IS risk (OR = 0.74, 95% CI: 0.57-0.98, P = 0.036); the GG genotype was associated with an increased IS risk in women (OR = 2.31, 95% CI: 1.00-5.31, P = 0.049). The rs1038376 polymorphism was associated with reduced IS risk for age ≤ 60 years (AT vs. TT: OR = 0.63, 95% CI: 0.40-0.99, P = 0.046). Interestingly, there were significant differences in some clinical indicator levels between case and control groups, and genotypes of SNPs. Our results indicated that CYP2B6 polymorphisms (rs2099361, rs4803420, and rs1038376) were associated with the risk of IS. Further studies are still needed to validate our findings with larger sample sizes.