Search

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., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Background: Interleukin (IL)-1 is a cytokine superfamily, which involved in the inflammatory process and immune response in human body. IL-1 receptor antagonist (IL1RN) has been found to be associated with risk of lumbar disk herniation (LDH) in Finland samples. However, to date, there was no investigation focus on the polymorphisms of IL1RN in Chinese Han LDH patient., Materials and Methods: We conducted a case-control study based on 498 LDH patients and 463 controls. Five single-nucleotide polymorphisms (SNPs) in IL1RN were genotyped., Results: As a result, we found that the AG and GG genotypes of rs3181052 were associated with decreased risk LDH under the dominant model (OR = 0.74, 95%CI: 0.57-0.96, p = .025). In the stratification analysis, the frequency of the "A" allele of rs17042888 was significantly lower in elder LDH cases than in controls (OR = 0.723, 95%CI: 0.544-0.961, p = .025). In addition, the AG and AA genotypes of rs17042888 were associated with decreased risk of LDH in elder group under the dominant model (OR = 0.69, 95%CI: 0.49-0.98, p = .038). The GG genotype of rs315919 was identified have correlation with decreased risk of LDH in elder group under the recessive model (OR = 0.60, 95%CI: 0.37-0.97, p = .034)., Conclusions: Our data showed that IL1RN may be a susceptibility gene for risk of LDH in Chinese Han population., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Background: Kidney cancer is the predominant form of malignancy of the kidney and accounts for approximately 3%-4% of all cancers. Renal cell cancer (RCC) represents more than 85% of kidney cancer. It has been reported that genetic factors may predispose individuals to RCC. This study evaluated the association between Acylphosphatase 2 (ACYP2) gene polymorphisms and RCC risk in the Han Chinese population., Methods: Twelve single-nucleotide polymorphisms (SNPs) in ACYP2 were genotyped using the Agena MassARRAY platform from 293 RCC patients and 495 controls. The Chi-squared test, genetic models, haplotype, and stratification analyses were used to evaluate the association between SNPs and the risk of RCC. The relative risk was estimated using the odds ratio (OR) and 95% confidence interval (CI)., Results: We observed that the rs6713088 allele G (OR = 1.26, 95% CI: 1.03-1.53, p = .023) and rs843711 allele T (OR = 1.29, 95% CI: 1.06-1.57, p = .010) were associated with increased RCC risk. Genetic model analyses found that rs843711 was significantly associated with an increased RCC risk under the recessive model and log-additive model after adjusting for age and gender. Haplotype analysis showed that the haplotype "TTCTCGCC" (OR = 0.67, 95% CI: 0.48-0.94, p = .021) was associated with a decreased risk of RCC in the Han Chinese population. Stratification analysis also found that rs6713088 and rs843711 were significantly associated with increased RCC risk., Conclusion: In summary, the results suggested that ACYP2 polymorphisms could be used as a genetic marker for RCC. Additional functional and association studies are required to validate our results., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Aim: In this study, we aimed to evaluate the association between genetic variants of ZC3HC1 and SMARCA4 and hypertension risk in the Chinese Han population., Methods: The Agena MassAssary platform was used to determine the genotypes of eight SNPs in ZC3HC1 and SMARCA4 from 350 hypertension patients and 483 healthy controls. Chi-squared tests and genetic model were used to evaluate the associations. Odds ratios and 95% confidence intervals were calculated using unconditional logistic regression. The statistical power of this study was estimated through the Power and Sample Size Calculation online software., Result: In the genetic model analysis, we identified that the SNP of rs1464890 in ZC3HC1 was associated with a 0.68-fold decreased risk of hypertension in the codominant model and 0.65-fold decreased risk in the dominant model. Rs4507692 in ZC3HC1 was associated with a 0.69-fold decreased risk of hypertension in the codominant model and 0.66-fold decreased risk in the dominant model. The genotype "G/A-A/A" of rs11879293 and the genotype "G/T-T/T" of rs1122608 in SMARCA4 were significantly associated with decreasing the hypertension risk. In addition, the "A rs2242487 T rs1464890 T rs4507692 " ZC3HC1 haplotype was associated with a decreased risk of hypertension., Conclusion: The present study suggested that ZC3HC1 and SMARCA4 polymorphism may conducive to play a protective role against the hypertension risk., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Lumbar disc herniation (LDH) is a common spinal disease in clinical practice. Once lumbar disc herniation occurs, it seriously reduces patient's quality of life. The EYS (eyes shut homolog) was discovered in recent years and it may be related to lumbar disc herniation. So we conducted a case-control study to explore the relationship between EYS polymorphism and lumbar disc herniation risk., Methods: We selected 5 single-nucleotide polymorphisms (SNPs) of EYS gene in a case-control study with 508 cases and 508 healthy controls to evaluate the relatedness by using genetic model, haplotype, and stratification analysis., Results: We found that the minor alleles of rs62413038 (OR = 1.21, 95%CI: 1.01-1.43, p = .036) and rs9450607 (OR = 1.26, 95% CI: 1.05-1.53, p = .016) were associated with an increased risk of lumbar disc herniation in the allelic model analysis. In the genotypic model analysis, rs62413038 displayed a significantly increased risk of lumbar disc herniation in log-additive models (OR = 1.20, 95% CI: 1.01-1.43, p = .039). While the rs9450607 was also obviously associated with an increased lumbar disc herniation risk in recessive (OR = 1.98, 95% CI: 1.24-3.13, p = .004) and log-additive models (OR = 1.27, 95% CI: 1.05-1.55, p = .014). In addition, in the haplotype analyses of the SNPs, we found that the "CGGA" haplotype of rs1482456, rs9342097, rs9450607, and rs7757884 was associated with lumbar disc herniation. (OR = 0.52, 95% CI: 0.30-0.89, p = .017)., Conclusion: These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Tuberculosis (TB) is a significant worldwide health problem, and is caused by Mycobacteria tuberculosis. Recent studies have suggested that FOXO3 plays vital roles in the risk of immune-related infectious diseases such as TB., Methods and Results: The present study aimed to evaluate FOXO3 genetic variants and TB risk. We recruited 510 TB patients and 508 healthy controls in this study. All subjects were genotyped with the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression adjusted for age and gender. Our result revealed that rs3800229 T/G and rs4946935 G/A genotypes significantly increased the risk of TB (OR = 1.34, 95% CI = 1.04-1.74, p = 0.026; OR = 1.34, 95% CI = 1.03-1.73, p = 0.029, respectively). In stratified analysis according to gender and age, we observed that rs3800229 T/G and rs4946935 G/A genotypes were associated with an increase the risk of TB among males and age ≤41 years, respectively (OR = 1.47, 95% CI = 1.06-2.04, p = 0.022 and OR = 1.45, 95% CI = 1.05-2.02, p = 0.025)., Conclusions: Our study showed that rs3800229 and rs4946935 in FOXO3 were associated with a risk of TB in the Chinese population., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Interleukin-1β (IL-1B) has been recognized as a pro-inflammatory cytokine and associated with tumorigenesis. We aimed to evaluate the contribution of IL-1B polymorphisms to the susceptibility of cervical cancer in Chinese Uygur population., Methods: Seven variants were genotyped by Agena MassARRAY platform in 267 cervical cancer patients and 302 healthy controls. Allelic, genotypic, and haplotypic association analyses adjusted for age were investigated using odds ratios (OR) and 95% confidence intervals (CI). GEPIA and UALCAN databases were used to evaluate expression and prognostic of IL-1B gene in cervical cancer., Results: Our result revealed IL-1B rs1143627-AA (OR = 1.98, p = 0.029) and rs16944-GG (OR = 2.01, p = 0.025) was associated with an increased risk of cervical cancer. Besides, we also found two protective single nucleotide polymorphisms (SNPs) rs3136558 (OR = 0.63, p = 0.011) and rs1143630 (OR = 0.63, p = 0.019). Haplotype ″TGA″ in the block (rs1143630, rs1143627, and rs16944) significantly decreased the susceptibility of cervical cancer (OR = 0.53, p = 0.0007). IL-1B mRNA level was up-regulated in the cervical cancer patients, which was related with poor prognosis in silico., Conclusions: For the first time, our results provide evidence on polymorphism of IL-1B gene associated with cervical cancer risk in Chinese Uygur population., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: ACYP2 gene may be involved in the process of telomere shortening which may be involved in the liver cancer. So, this research was to examine whether the ACYP2 gene polymorphism has impact on the risk of liver cancer in Chinese population., Methods: Two hundred and fifty cirrhosis patients and 248 liver cancer patients were selected. Unconditional logistic regression was to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Analyze the relationship between ACYP2 gene polymorphism and tumor using meta-analysis. Analyze the expression of ACYP2 gene in liver cancer and its influence on the prognosis of liver cancer by databases (Ualcan, GTEX and Kaplan-Meier plotter)., Results: In the allele model, ACYP2 rs843720 was protection against the occurrence of cirrhosis developed into liver cancer (OR = 0.76, 95% CI: 0.58-0.99, p = 0.04). Rs1682111 and rs843720 play a protective role in the additive model (rs1682111: OR = 0.69, 95% CI: 0.52-0.93, p = 0.01; rs843720: OR = 0.73, 95% CI: 0.54-0.98, p = 0.04).While rs843645 G allele increased the risk of cirrhosis developed into liver cancer under the additive model (OR = 1.42, 95% CI: 1.02-2.00, p = 0.04).The haplotype analysis detected that "ATATCGCC" decreased the risk of cirrhosis developed into liver cancer (OR = 0.69, 95% CI: 0.51-0.92, 95% CI: p = 0.013); however, "TGAGCGTC" increased the risk of cirrhosis developed into liver cancer (OR = 1.48, 95% CI: 1.04-2.10, p = 0.027). Meta-analysis shown that ACYP2 rs1682111 was associated with the risk of cancer (OR = 0.90, 95% CI: 0.78-1.05, p = 0.02). ACYP2 gene high expression was found to be associated with better OS for all liver patients., Conclusion: Based on this research, we surmised that ACYP2 gene may be involved in the occurrence of liver cancer in Chinese populations., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Rheumatoid arthritis (RA) is the most common inflammatory disease which refers to bony erosions and joint destruction largely caused by genetic factors. Our study aimed to explore whether interleukin-7 receptor (IL-7R) gene polymorphisms influenced RA risk in the Han Chinese population., Methods: Five single nucleotide polymorphisms (SNPs) in IL-7R gene were successfully genotyped using Agena MassARRAY platform. The associations between IL-7R polymorphisms and RA were evaluated by the Chi-squared test, T test, genetic model analysis, and haplotype analysis. We calculated odds ratios (ORs) and 95% confidence intervals (95% CIs) using logistic regression analysis., Results: Rs969129 and rs6451231 in the IL-7R gene were associated with an increased risk of RA in the allele model (OR = 1.25, 95% CI = 1.05-1.49, p = 0.013; OR = 1.23, 95% CI = 1.03-1.48, p = 0.023), respectively. In the genetic models, rs969129 and rs6451231 were associated with an increased risk of RA. After stratification analysis by age, rs969129 and rs6451231 were associated with an increased risk of RA in patients (age <54). After stratification analysis by gender, rs6451231 was associated with an increased risk of RA in males, while rs969129 was found to be associated with an elevated risk of RA in females. And there was a strong linkage disequilibrium among the four SNPs (rs969129, rs118137916, rs10053847, and rs6451231)., Conclusion: These results suggested rs969129 and rs6451231 in the IL-7R gene were associated with an increased risk of RA in the Han Chinese population., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Laryngeal squamous cell carcinoma (LSCC) is one of the most prevalent malignant neoplasms of the upper respiratory tract. Studies have confirmed that an unstable chromosome constitution promotes the progress of laryngeal tumorigenesis, and ACYP2 has been confirmed as a telomere length-related gene. However, to date, the association between ACYP2 polymorphisms and LSCC susceptibility has not been investigated., Methods: We performed this study to explore the effect of 11 single-nucleotide polymorphisms (SNPs) in ACYP2 on LSCC susceptibility in Chinese Han males. Unconditional logistic regression analysis adjusted for age was used to calculate the odds ratios and 95% confidence intervals., Results: Based on allele and genotype models, our results showed that rs1682111 variant was significantly associated with a decreased LSCC susceptibility (p < 0.05). On the contrary, polymorphisms of rs10439478, rs11125529, rs12615793, rs843711, rs11896604, and rs17045754 were significantly associated with an increased LSCC risk (p < 0.05). The results of haplotype analysis indicated that haplotypes "TTCTCG" and "TTCTAA" in block 1 and "TG" in block 2 showed a risk factor for the development of LCSS (p = 0.009, p < 0.001, and p = 0.001, respectively). The results of Genotype-Tissue Expression analysis indicate that these significant SNPs were known to be associated with ACYP2 expression., Conclusion: Our data demonstrated that ACYP2 polymorphisms may exert effects on LSCC susceptibility in Chinese Han males., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Gastric cancer (GC), the second leading cause of cancer mortality behind lung cancer worldwide, is caused by both genetic and environmental factors. In this study, we evaluated the association between the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthesis reductase (MTR), and methyltransferase reductase (MTRR) genes and ischemic stroke risk in Chinese population., Methods: A case-control study was conducted including 681 patients with GC and 756 healthy controls. Chi-squared test/Fisher's exact test and genetic model were used to evaluate associations. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression., Results: In the allele model, using the chi-square test, we found that the rs1532268 in MTRR with a minor allele T was significantly associated with increased risk of GC (OR = 1.24, 95% CI, 1.00-1.53; p = 0.048). In the genetic model analysis, we identified that the single-nucleotide polymorphism of the rs1801133 in MTHFR could increase the GC risk in the recessive model (OR = 1.31, 95% CI, 1.01-1.70; p = 0.042) and log-additive model (OR = 1.19, 95% CI, 1.02-1.38; p = 0.025). In MTHFR, a strong linkage of rs2274976 and rs1801133 was detected. The haplotype "GC" in the MTHFR gene was found to prominently increase the risk of GC (OR = 1.26, 95% CI: 1.07-1.47; p = 0.005). Other haplotypes did not display the correlativity., Conclusion: This study suggested that MTR and MTHFR polymorphisms may contribute to increase the risk of GC., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Recently, many studies have identified that genetic factor plays a crucial role in endometrial cancer development. The purpose of this study is to investigate the influence of single nucleotide polymorphisms (SNPs) of IL-1R2 on endometrial cancer susceptibility., Methods: We performed a case-control study that included 293 patients with endometrial cancer and 579 healthy controls. Six SNPs in the IL-1R2 gene were genotyped using the Agena MassARRAY platform. Genetic models and haplotype analyses were used to assess the association between SNPs and endometrial cancer risk by computing odds ratios (ORs) and 95% confidence intervals (CIs)., Results: Overall analysis results found that two SNPs (rs4851527 and rs3218896) and haplotypes TGTC and TACT were significantly associated with endometrial cancer risk. Stratified analysis by age showed that rs2072472 was associated with endometrial cancer risk in age >54 subgroup., Conclusions: These findings suggested that IL-1R2 polymorphisms may contribute to the development of endometrial cancer. Further studies are required to confirm the results., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Endometrial cancer is the most common gynaecological malignancy. Cytokines gene may be important in endometrial cancer development. This study sought to investigate whether the IL4, IL6 two gene genetic variants were associated with susceptibility to endometrial cancer (EC) in Hainan Chinese Han women by a hospital-based study., Methods: The genetic polymorphisms for IL4 and IL6 were analyzed by Agena MassARRAY method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression., Results: We observed a significant increase in risk of endometrial cancer of rs1524107 (IL6) (T/C, OR = 1.61, 95% CI = 1.09-2.37, p = 1.55 × 10 -2 ), rs2066992 (IL 6) (OR = 3.09, 95% CI = 2.11-4.53, p = 3.13 × 10 -9 ). However, for IL4 gene, no associations emerged the SNP and EC risk., Conclusion: This study demonstrated that IL6 gene polymorphisms are significantly associated with increased EC susceptibility in Hainan Chinese Han women., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

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., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Aim: Osteonecrosis of the femoral head (ONFH) refers to bony changes caused by osteocyte death under the effects of complicated factors, which is caused by genetic factors and certain risk factors. Our study aimed to explore whether IL1R1/IL1R2 polymorphisms influenced ONFH risk in the Chinese Han population., Methods: We selected 286 patients and 441 controls, with 11 single-nucleotide polymorphisms in IL1R1 and IL1R2 gene were successfully genotyped, and evaluated the associations using the chi-squared test, Fisher's exact test, T test, and genetic model analyses. Odds ratios and 95% confidence intervals (CIs) were calculated using unconditional logistic regression., Results: In the allele model, rs11674595 in IL1R2 was associated with increasing the risk of ONFH, the rs10490571 and rs3917225 in IL1R1 gene were associated with an increased risk of ONFH, respectively. In the genetic model, the rs11674595 in IL1R2 gene was associated with an increased risk of ONFH in the codominant model, dominant model, and log-additive model, respectively. The rs10490571 and rs3917225 in IL1R1 gene conferred an increased risk of ONFH in the codominant model, dominant model, and log-additive model, respectively. We found none of the haplotypes in the IL1R2 gene was significantly associated with theONFH risk., Conclusion: Our findings have demonstrated that the rs11674595 (IL1R2), rs10490571, and rs3917225 (IL1R1) were significantly associated with increasing the ONFH risk in the Chinese Han population., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Aim: High-altitude pulmonary edema (HAPE), as a multifactorial disease, is caused by stress failure and involves both environmental and genetic factors. Study shows that IL-1 receptors can selectively decrease the oxygen arterial hypertension and influence the blood coagulation. So we evaluated whether genetic polymorphisms in IL1R1 and 1L1R2 genes are associated with the risk of HAPE in Chinese Han population., Methods: Ten susceptible SNPs in the IL1R1 and IL1R2 genes were genotyped among 265 HAPE cases and 303 controls using the Agena MassARRAY platform. The associations of the SNP frequencies with HAPE were analyzed by chi-square (χ 2 ) test/Fisher's test. The genetic models were used to evaluate associations., Results: In the allele model, we found that rs2072472 was significantly associated with a 0.73-fold decreased risk of HAPE (OR = 0.73, 95% CI = 0.55-0.97, p = 0.033). In the genetic model analysis, the rs2072472 in IL1R2 gene was associated with a 0.32-fold decreased risk of HAPE in the codominant model, 0.67-fold decreased risk of HAPE in the dominant model, 0.36-fold decreasing the risk of HAPE in the recessive model, and 0.66-fold decreased risk of HAPE in the log-additive model, respectively. We found three candidate SNPs (rs11674595, rs4851527, and rs719250) in the IL1R2 gene have shown strong linkage, and none of the haplotypes was significantly associated with risk of HAPE., Conclusion: These findings suggested that IL1R2 polymorphisms may contribute to the protection of HAPE., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Steroid-induced osteonecrosis of the femoral head (ONFH) is a debilitating disease characterized by the activation and infiltration of macrophages into the necrotic site. Interleukin-4 (IL-4) administration helped reduce the infiltration of M1 phenotypic macrophages and maintain the activation of M2 phenotypic macrophages, resulting in restriction of inflammation and decrease in osteocyte apoptosis. The aim of this study was to investigate the associations of polymorphisms of IL-4 gene with steroid-induced ONFH in Chinese patients., Materials and Methods: A total of 286 steroid-induced ONFH patients and 441 healthy controls were enrolled. We evaluated 6 single nucleotide polymorphisms of the IL-4 gene in this case-control study., Results: We identified rs2243283 in the IL-4gene was potentially associated with an increased risk of steroid-induced ONFH in the dominant model (p = 0.034; odds ratio [OR]: 1.40; 95% confidence intervals [CI]: 1.03-1.91) and in the log-additive model (p = 0.04; OR: 1.31; 95% CI: 1.01-1.71) adjusted by age and gender. Furthermore, we also observed a protective effect of rs2243289 in the dominant model (p = 0.024; OR: 0.70; 95% CI: 0.51-0.95) adjusted by age and gender., Conclusion: These findings suggested that polymorphisms of IL-4 gene may be associated with susceptibility to steroid-induced ONFH., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Background: Disordered inflammation and immune response is an acknowledged risk factor for cervical cancer development. Interleukin-1 receptor type 2 (IL1R2) is a decoy receptor for IL-1 cytokines and involved in host inflammatory and immune progression which could lead to the lesion and neoplasia of cervix. In this study, we aimed to evaluate the relationships between IL1R2 polymorphisms and cervical cancer risk in Uygur females from China., Methods: In this case-control study, genotypes of six selected variants (rs11674595, rs4851527, rs719250, rs3218896, rs3218977, and rs2072472) distributed in IL1R2 were detected among 247 cervical cancer patients and 286 healthy controls with the usage of an Agena MassARRY method. Furthermore, Genetic models and haplotype analyses were conducted to estimate the associations of IL1R2 polymorphisms with cervical cancer risk., Results: After statistical analyses, rs719250 (odd ratio [OR] = 1.436, 95% confidence interval [95% CI] = 1.079-1.911, p = 0.013) and rs3218896 (OR = 1.552, 95% CI = 1.080-2.229, p = 0.017) showed obvious evidence in correlation to cervical cancer susceptibility owing to the surviving significant differences between cases and controls in allele model. Genetic model analyses also revealed significant associations of rs719250 and rs3218896 with cervical cancer risk in the codominant model, the dominant model and the log-additive model even after adjustment for age (p < 0.05). Moreover, haplotype "T/A" of rs11674595/rs4851527 (adjusted OR = 0.73, 95% CI = 0.54-0.98, p = 0.037) and "T/C" of rs719250/rs3218896 (adjusted OR = 1.61, 95% CI = 1.10-2.36, p = 0.015) exhibited protective and risky effects for Uygur individuals on cervical cancer development, respectively., Conclusion: Our data first shed the new light on the associations of IL1R2 polymorphisms with cervical cancer susceptibility among Uygur females. These results are supposed to facilitate the tumorigenesis genetic research among Chinese minorities., (© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)