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Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

ABSTRACT: Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients.

SUBMITTER: Remuzgo-Martinez S

PROVIDER: S-EPMC8604941 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Role of MUC1 rs4072037 polymorphism in gastric cancer: a meta-analysis.

Project description:Background and objective: To further determine the association between mucin 1 (MUC1) rs4072037 polymorphism and gastric cancer risk on the basis of previously published studies. Methodology: PubMed and Embase were used to search all the available publications. The relative risk of the correlation was shown as odds ratio (OR) with 95% confidence interval (95% CI) under all the genetic comparisons. Subgroup analyses based on ethnicity, study design and HWE were also executed to detect effects of specific factors on the risk of gastric cancer. Results:MUC1 rs4072037 polymorphism was observed to reduce the risk of gastric cancer under the five genetic comparisons [(GG versus AA: OR (95% CI)=0.72 (0.61, 0.84); GG + GA versus AA: OR (95% CI)=0.82 (0.76, 0.88); GG versus AA + GA: OR (95% CI)=0.83 (0.71, 0.96); G versus A: OR (95% CI)=0.78 (0.72, 0.84); GA versus AA: OR (95% CI)=0.80 (0.74, 0.87)]. This decreased risk of gastric cancer was also detected in subgroup analyses based on ancestry (Asian and Caucasian), study design (population-based and hospital-based) and HWE (PHWE>0.05). Conclusions:MUC1 rs4072037 polymorphism may have an important role in gastric cancer, and this protective effect may vary among different ethnic populations and control subjects.

| S-EPMC7137027 | biostudies-literature

Serum KL-6 levels predict clinical outcomes and are associated with MUC1 polymorphism in Japanese patients with COVID-19.

Project description:BackgroundKrebs von den Lungen-6 (KL-6) is a known biomarker for diagnosis and monitoring of interstitial lung diseases. However, the role of serum KL-6 and the mucin 1 (MUC1) variant (rs4072037) in COVID-19 outcomes remains to be elucidated. We aimed to evaluate the relationships among serum KL-6 levels, critical outcomes and the MUC1 variant in Japanese patients with COVID-19.MethodsThis is a secondary analysis of a multicentre retrospective study using data from the Japan COVID-19 Task Force collected from February 2020 to November 2021, including 2226 patients with COVID-19 whose serum KL-6 levels were measured. An optimal serum KL-6 level cut-off to predict critical outcomes was determined and used for multivariable logistic regression analysis. Furthermore, the relationship among the allele dosage of the MUC1 variant, calculated from single nucleotide polymorphism typing data of genome-wide association studies using the imputation method, serum KL-6 levels and COVID-19 critical outcomes was evaluated.ResultsSerum KL-6 levels were significantly higher in patients with COVID-19 with critical outcomes (511±442 U/mL) than those without (279±204 U/mL) (p<0.001). Serum KL-6 levels ≥304 U/mL independently predicted critical outcomes (adjusted OR (aOR) 3.47, 95% CI 2.44 to 4.95). Moreover, multivariable logistic regression analysis with age and sex indicated that the MUC1 variant was independently associated with increased serum KL-6 levels (aOR 0.24, 95% CI 0.28 to 0.32) but not significantly associated with critical outcomes (aOR 1.11, 95% CI 0.80 to 1.54).ConclusionSerum KL-6 levels predicted critical outcomes in Japanese patients with COVID-19 and were associated with the MUC1 variant. Therefore, serum KL-6 level is a potentially useful biomarker of critical COVID-19 outcomes.

| S-EPMC10230347 | biostudies-literature

Association between MUC1 rs4072037 polymorphism and Helicobacter pylori in patients with gastric cancer.

Project description:BackgroundThe MUC1 gene encodes glycoproteins attached to cell membrane that play a protective role in gastric cancer and protect epithelial surfaces against external factors such as Helicobacter pylori. H. pylori infection can induce a cascade of innate and acquired immune responses in gastric mucosa. Relationship between rs4072037G>A polymorphism of MUC1 gene and increased susceptibility to H. pylori infection aimed to investigate in patients with gastric cancer in Mazandaran, northern Iran.MethodsA case-control study was conducted on 99 patients with gastric cancer (H. pylori positive and negative) and 98 controls (H. pylori positive and negative) without gastric cancer (confirmed by pathological biopsy samples obtained during endoscopy). H. pylori infection was diagnosed by histological examination using Giemsa staining. Genomic DNA extracted from peripheral blood was analyzed by PCR-RFLP technique.ResultsAnalysis of all genetic models showed no significant relationship between rs4072037G>A polymorphism and risk of gastric cancer (GC). The relationship between H. pylori infection and rs4072037G>A polymorphism showed an increased susceptibility to gastric cancer in both positive and negative H. pylori groups (including case and control groups). The genetic model of GA/GG and H. pylori- positive versus GA/GG and H. pylori-negative showed a significantly increased susceptibility to gastric cancer (OR=0.251, CI: 0.128-0.493, P=0.000).ConclusionThese findings indicate that rs4072037G>A polymorphism may interact with H. pylori infection to increase the risk of GC.

| S-EPMC10921109 | biostudies-literature

MUC1 gene polymorphism rs4072037 and susceptibility to gastric cancer: a meta-analysis.

Project description:The association between MUC1 polymorphism rs4072037 and the risk of gastric cancer has been described in several studies. However, these studies yielded inconsistent results, especially in different pathological type of gastric cancer. Therefore, we performed this meta-analysis to evaluate the relationship between MUC1 gene polymorphism and gastric cancer susceptibility. A comprehensive database search was performed to identify eligible studies. Odds ratios with 95% confidence intervals were calculated to assess the strength of the association between MUC1 rs4072037 and risk of gastric cancer. Subgroup analyses, publication bias, and sensitivity analyses were also conducted. PubMed, EMBASE, Web of Science and CNKI databases were systematically searched to identify relevant studies. A total of 9 studies (12 datasets) were included in the meta-analysis including 10,410 cases and 11,437 controls. Overall, the G allele at rs4072037 of MUC1 gene was associated with a significant decreased gastric cancer risk (OR=0.70, 95% CI: 0.64-0.76). The association was significant in both anatomic location and pathological subtype subgroup analyses. However, the association was detected in Asian rather than Caucasian. Our findings demonstrate that the presence of the G allele at rs4072037 of the MUC1 gene may contribute to protection against gastric cancer in Asian. Further large studies of multiethnic groups are needed to validate these findings.

| S-EPMC4198476 | biostudies-literature

MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.

Project description:KL-6, a human MUC1 mucin, is a sensitive biomarker for interstitial lung diseases including pulmonary alveolar proteinosis (PAP). A correlation between MUC1 gene single nucleotide polymorphism (SNP) rs4072037 genotype and serum KL-6 levels has been reported. This study was aimed at investigating the correlation between MUC1 SNP genotype, severity of disease and disease outcome in PAP.Twenty four patients with PAP and 30 healthy volunteers were studied. MUC1 rs4072037 was detected by using a real-time polymerase chain reaction (RT-PCR). Genotyping was performed by pyrosequencing. KL-6 levels were measured in serum by Nanopia KL-6 assay (SEKISUI Diagnostics).The frequency of MUC1 rs4072037 alleles was significantly different between PAP patients and healthy volunteers (PAP, A/A 46%, A/G 54%, G/G 0%; healthy controls, A/A 30%, A/G 40%, G/G 30%; p?=?0.013). Serum KL-6 levels were significantly higher in PAP patients than in controls (p?<?0.0001), and significantly higher in PAP patients with A/A genotype than in those with A/G genotype (p?=?0.007). Patients with A/A genotype had higher alveolar-arterial oxygen difference (A-aDO2) and lower DLco compared to those with A/G genotype (p?=?0.027 and p?=?0.012, respectively). Multivariate analysis, Kaplan-Meier analysis and C statistics showed that the rs4072037 A/A genotype was associated with higher rate of disease progression (HR: 5.557, p?=?0.014).MUC1 rs4072037 A/A genotype is associated with more severe pulmonary dysfunction and a higher rate of disease progression in PAP patients.

| S-EPMC4841967 | biostudies-literature

The effect of MUC1 rs4072037 functional polymorphism on cancer susceptibility: evidence from published studies.

Project description:Genome-wide association studies have identified a susceptibility variation MUC1 rs4072037 for gastric cancer in Chinese population. Subsequent case-control studies have reported this association in other populations. However, the results remain controversial and ambiguous. The aim of this study is to provide a precise quantification for the association between MUC1 rs4072037 variation and the risk of cancer. We performed pooled analysis of 10 case-control designed studies including 4,220 cases and 6,384 controls. Odds ratios (OR) and 95% confidence interval (95%CI) were calculated to assess strength of association in overall studies and in subgroup analysis stratified by ethnicity and cancer types. All statistical analyses were performed by Manager 5.0 and Stata 12.0 software. Overall, the MUC1 rs4072037 polymorphism was associated with risk of cancer in all genetic models (G vs A: OR = 0.71, 95%CI: 0.63-0.80, p<0.01; GA vs AA: OR = 0.61, 95%CI:0.55-0.67, p<0.01; GG vs AA: OR = 0.58, 95%CI: 0.47-0.71, p<0.01; AG+AA vs GG: OR = 0.60, 95%CI: 0.55-0.60, p<0.01; GG vs AG+AA: OR = 0.70, 95%CI: 0.58-0.85, p<0.01). Further, subgroup analysis based on ethnicity suggested MUC1 rs4072037 polymorphism had a subtly reduced cancer risk among Asian population, and stratified analysis by cancer types showed significantly decreased risk of gastric cancer in all genetic models. In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibility particularly for gastric cancer and for Asian population.

| S-EPMC3995803 | biostudies-literature

Association of MUC1 rs4072037 Functional Polymorphism and Cancer Risk: Evidence from 12551 Cases and 13436 Controls.

Project description:Objectives: The result of the relationship between the MUC1 rs4072037 polymorphism and cancer risk is controversial, we take this meta-analysis to investigate a more precise result. Methods: Electronic database Pubmed, Web of science and Cochrane library had been used to search relevant articles concerning the relationship between MUC1 rs4072037 polymorphism and cancer risk. We used odds ratios (ORs) and 95% confidence intervals (CIs) to assess the strength of the gene-disease association. We also conducted subgroup analysis, sensitivity analyses and publication bias in the meta-analysis. Results: In our meta-analysis, we involved 17 studies (19 datasets) with 12551 cases and 13436 controls eventually. It showed the MUC1 rs4072037 polymorphism was associated with decreased cancer risk in four genetic models (G vs. A: OR=0.79, 95%CI: 0.71-0.89, P< 0.001; AG vs. AA: OR=0.72, 95%CI: 0.62-0.82, P< 0.001; GG vs. AA: OR=0.78, 95%CI: 0.69-0.88, P< 0.001; AG+GG vs. AA: OR=0.72, 95%CI: 0.63-0.83, P< 0.001). In subgroup analysis, it showed a decreased cancer risk among Asians but not Caucasians and a significant decreased gastric cancer risk in all genetic models. Conclusion: MUC1 rs4072037 polymorphism is associated with decreased cancer risk and can probably be used as a tumor marker, especially for gastric cancer and for Asians.

| S-EPMC6160680 | biostudies-literature

Association between the MUC1 rs4072037 Polymorphism and Risk of Gastric Cancer and Clinical Outcomes.

Project description:PurposeMucin 1 (MUC1) was identified as a gastric cancer (GC) susceptibility gene by genome-wide association studies in Asians and candidate gene studies in Europeans. This study aimed to investigate the association between the MUC1 rs4072037 polymorphism and GC in terms of the Lauren classification and long-term clinical outcomes.Materials and methodsA total of 803 patients with GC and 816 unrelated healthy controls were enrolled in the study. The association between the MUC1 rs4072037 variant and GC histological types and clinical outcomes, including tumor recurrence and prognosis was investigated.ResultsThe major A allele of rs4072037 was associated with increased GC risk (P<0.05). In subtype analysis, the association was most significant for diffuse-type GC (P<0.05) and in a dominant model (P<0.05), whereas there was no association with intestinal-type GC (P>0.05). Cox proportional hazards analysis revealed the heterozygote AG rs4072037 allele as an independent risk factor influencing tumor recurrence and disease-related death in diffuse-type GC (P<0.05). but not in intestinal-type GC (P>0.05).ConclusionsThe exonic single nucleotide polymorphism rs4072037 in MUC1 was associated with diffuse-type GC and was an independent risk factor influencing tumor recurrence and disease-related death in diffuse-type GC.

| S-EPMC7311214 | biostudies-literature

Use of serum KL-6 level for detecting patients with restrictive allograft syndrome after lung transplantation.

Project description:KL-6 is an antigen produced mainly by damaged type II pneumocytes that is involved in interstitial lung disease. Chronic lung allograft dysfunction (CLAD) after lung transplantation (LT) is a major concern for LT clinicians, especially in patients with restrictive allograft syndrome (RAS). We investigated KL-6 levels in serum and bronchoalveolar lavage fluid (BALF) as a potential biomarker of the RAS phenotype. Levels of KL-6 in serum and BALF were measured in 73 bilateral LT recipients, and patients were categorized into 4 groups: stable (ST), infection (LTI), bronchiolitis obliterans syndrome (BOS), and RAS. We also studied a healthy cohort to determine reference values for serum KL-6. The highest levels of KL-6 were found in the serum of patients with RAS (918 [487.8-1638] U/mL). No differences were found for levels of KL-6 in BALF. Using a cut-off value of 465 U/mL serum KL-6 levels was able to differentiate RAS patients from BOS patients with a sensitivity of 100% and a specificity of 75%. Furthermore, higher serum KL-6 levels were associated with a decline in Forced Vital Capacity (FVC) at 6 months after sample collection. Therefore, KL-6 in serum may well be a potential biomarker for differentiating between the BOS and RAS phenotypes of CLAD in LT recipients.

| S-EPMC6957146 | biostudies-literature

Genetic variant rs4072037 of MUC1 and gastric cancer risk in an Eastern Chinese population.

Project description:Published data on the association between the MUC1 rs4072037A > G polymorphism and gastric cancer (GCa) risk were inconclusive. To derive a more precise estimation of the association, we conducted a large GCa study of 1,124 cases and 1,192 controls to confirm this association in an Eastern Chinese population. Our results showed that the G allele was strongly associated with a decreased GCa risk in the study population [GG vs. AA, odds ratio (OR) = 0.47, 95% confidence interval (CI) = 0.31-0.73; AG/GG vs. AA, OR = 0.82, 95% CI = 0.68-0.99; GG vs. AA/AG, OR = 0.48, 95% CI = 0.32-0.74]. These associations remained significant in subgroups of age, tumor site, drinking and smoking status. Moreover, this association was supported by an additional meta-analysis of published studies. In summary, these results suggest that the MUC1 rs4072037G allele may be a low-penetrating protection factor for GCa risk in Chinese populations.

| S-EPMC4941287 | biostudies-literature

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