OBJECTIVE: To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the response to ustekinumab (UST) treatment among CD patients. METHODS: From January 2018 to February 2025, 312 patients diagnosed with CD and 527 gender- and age-matched normal controls were selected as the study subjects at the Department of Gastroenterology of the Second Affiliated Hospital of Wenzhou Medical University. Genotypes of miR-155 (rs767649), miR-21 (rs13137), miR-124 (rs531564) and miR-146a (rs57095329, rs2431697) were determined with multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) technique. The patients were divided into different subgroups according to the Montreal Classification Criteria for CD. Harvey-Bradshaw index (HBI) and simplified endoscopic score for CD were respectively applied to assess the clinical and endoscopic disease activity of CD. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between the two groups, as well as their influence on the clinicopathological characteristics of CD patients. Among them, 185 CD patients received first-line UST treatment, with the first sufficient dose of UST (6 mg/kg) administered intravenously. Based on the changes in HBI at week 8, the response of patients to UST treatment was evaluated. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between clinically responsive group (the decline of HBI ≥ 3 scores compared to week 0) and non-responsive group. All of the P values were adjusted by Bonferroni correction. This study has been approved by the Medical Ethics Committee of the Second Affiliated Hospital of Wenzhou Medical University (Ethics No.: 2025-K-12-01). RESULTS: No significant difference was found in the distribution of miRNA gene polymorphisms between the two groups (all P > 0.05). The variant genotype (TC+CC) of rs2431697 was more common among patients with terminal ileal-type and ileocolic-type CD than those with the colonic-type CD (OR = 4.98, 95%CI: 1.49~16.68, P = 0.009, adjusted P = 0.045). However, the opposite conclusion was drawn for the homozygous variant genotype (TT) of rs13137 and variant genotype (GC+CC) of rs531564 (OR = 0.37, 95%CI: 0.18~0.76, P = 0.007, adjusted P = 0.035; OR = 0.36, 95%CI: 0.18~0.73, P = 0.004, adjusted P = 0.020). Compared to patients with non-stricturing and penetrating CD, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common in those with stricturing and penetrating CD (OR = 4.06, 95%CI: 2.46~6.71, P < 0.001, adjusted P < 0.005; OR = 3.12, 95%CI: 2.06~4.73, P < 0.001, adjusted P < 0.005). However, the frequencies of variant genotype (AT+TT) and variant allele (T) of rs13137 were lower among patients with stricturing and penetrating CD than in those without (OR = 0.25, 95%CI: 0.15~0.41, P < 0.001, adjusted P < 0.005; OR = 0.45, 95%CI: 0.33~0.63, P < 0.001, adjusted P < 0.005). Additionally, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common among those with moderately to severely endoscopic activity than those with mildly endoscopic activity (OR = 2.01, 95%CI: 1.19~3.42, P = 0.009, adjusted P = 0.045; OR = 2.04, 95%CI: 1.28~3.25, P = 0.003, adjusted P = 0.015). In total 117 cases had shown clinical response by week 8, while 68 cases showed no response. Compared with t he clinically non-responsive group, the variant genotype (TC+CC) and variant allele (C) of rs2431697 were more common in the clinically responsive group (OR = 3.86, 95%CI: 1.80~8.32, P = 0.001, adjusted P = 0.005; OR = 2.60, 95%CI: 1.34~5.06, P = 0.005, adjusted P = 0.025). However, the variant genotype (TA+AA) of rs767649 was less frequent in the clinically responsive group than the non-responsive group (OR = 0.40, 95%CI: 0.21~0.74, P = 0.004, adjusted P = 0.020). The same conclusion was drawn for the variant genotype (AT+TT) and variant allele (T) of rs13137 when the clinically responsive group was compared with the non-responsive group (OR = 0.30, 95%CI: 0.14~0.63, P = 0.002, adjusted P = 0.010; OR = 0.54, 95%CI: 0.35~0.82, P = 0.005, adjusted P = 0.025). CONCLUSION Genetic polymorphisms of miRNAs are not associated with the risk of developing CD. The miR-146a (rs57095329) variant may increase the endoscopic activity of CD and the risk for stenosis or penetration. However, the miR-146a (rs2431697) variant may increase the risk of ileal involvement. The miR-21 (rs13137) variant may reduce the risk of ileal involvement and the risk of stenosis or penetration. The miR-124 (rs531564) variant may reduce the risk of ileal involvement. Among patients receiving UST treatment, the miR-146a (rs2431697) variant may increase the clinical response by week 8. However, both the miR-155 (rs767649) and miR-21 (rs13137) variants may decrease the clinical response by week 8.
Humans ; MicroRNAs/genetics* ; Crohn Disease/pathology* ; Male ; Female ; Adult ; Polymorphism, Single Nucleotide ; Middle Aged ; Asian People/genetics* ; Genetic Predisposition to Disease ; Genotype ; Young Adult ; Case-Control Studies ; Adolescent ; East Asian People

OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

Objective To compare the clinical and cranial magnetic resonance imaging （MRI） features of neurological hepatolenticular degeneration （also known as Wilson disease，WD） with two different ATP7B gene mutations， and to investigate the association between the clinical and cranial MRI features in patients with the two mutation types of neurological WD. Methods The neurological WD patients with p.Arg778Leu or p.Pro992Leu homozygous mutation who were hospitalized in Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， from May 2014 to May 2025 were enrolled， and a retrospective analysis was performed for their demographic data， clinical manifestations， serological markers， and cranial MRI data to compare the differences between the two mutation types of neurological WD. Results A total of 103 neurological WD patients were enrolled， among whom there were 65 patients with p.Arg778Leu-mutant WD and 38 patients with p.Pro992Leu-mutant WD. There were no significant differences in demographics， clinical manifestations， and most serological markers between the two mutation types of WD， while there was a significant difference in cranial MRI findings between two groups， with significant differences in the damage of the thalamus （χ2=17.834，P<0.001），the midbrain （χ2=12.579， P<0.001）， and the pons （χ2=10.605， P=0.001） between the patients with p.Arg778Leu-mutant WD and those with p.Pro992Leu-mutant WD， and the multivariate analysis also showed significant differences in the above indicators （P<0.05）. Conclusion Demographic data， clinical manifestations， and serological markers are not associated with gene mutation types in neurological WD， while cranial MRI manifestations are associated with gene mutation types， among which p.Arg778Leu mutation of the ATP7B gene is more likely to involve the thalamus， the midbrain， and the pons.
Genotype

OBJECTIVE: To report the blood group antigen and antibody specificity identification methods for a patient with high-frequency antibodies, and the process of finding and providing compatible blood for the patient. METHODS: A patient sent from the Blood Transfusion Department of Shanxi Provincial People's Hospital to Blood Transfusion Technology Research Laboratory of Taiyuan Blood Center in November 2022 was selected for the study. Classical serological methods were used to determine the patient's blood type, screen for unexpected antibodies, identify antibodies, and perform crossmatching. High-frequency antibody identification was carried out using red blood cells treated with various enzymes. Blood group genotyping was conducted using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF) and Sanger sequencing. Multiple strategies were employed to address the patient's blood source problem. The study was approved by the Medical Ethics Committee of Taiyuan Blood Center [Ethics No. 2024 Ethics Review No.(2)]. RESULTS: The patient's blood type was B, RhD positive. Initial screening of the patient's serum with multiple screening cells and antibody identification cells in saline medium was negative, but positive in antiglobulin medium. The patient's serum showed varying reaction intensities with red blood cells treated with different enzymes. MALDI-TOF mass spectrometry and Sanger sequencing revealed a homozygous nonsense variant c.376C>T (p.Gln126Ter) in the ABCG2 gene, resulting in the Jr(a-) phenotype. During family donor selection, the patient's son was found to have a heterozygous variant c.376C>T (p.Gln126Ter), and another heterozygous variant c.421C>A (p.Gln141Lys), which predicted a Jr(a+w) phenotype. Crossmatch tests confirmed the compatibility of blood from the patient's son, which was used to address the urgent blood requirement. Later, rare blood from a Jr(a-) donor from the Guangzhou Blood Center was used for the patient's ongoing treatment, saving the patient's life. CONCLUSION Combining classic serological testing with blood group gene typing techniques successfully identified the rare Jr(a-) blood type and high-frequency anti-Jra antibodies. Enzyme-treated red blood cell identification methods confirmed the presence of anti-Jra antibodies. By searching within the family and seeking help from other blood centers, compatible blood was found. This approach may provide insights for resolving similar complex blood matching problems in the future.
Humans ; Blood Grouping and Crossmatching/methods* ; Blood Group Antigens/immunology* ; Blood Transfusion ; Male ; Isoantibodies/blood* ; Female ; Genotype

OBJECTIVE: To identify the nucleotide sequence of a novel HLA-DRB1*12:106 allele. METHODS: A blood donor who was joined into the database for platelet matching transfusion at the Blood Center of Zhejiang Province in 2023 was selected as the study subject. HLA genotyping was carried out through next-generation sequencing based on AllType NGS 11 locus, AllType FASTPlex NGS reagents, and Sanger sequencing method. The HLA genotype of the donor by Sanger sequencing and next generation sequencing were assigned by using uTYPE 7.3 and TypeStream Visual 3.0 software, respectively. This study was approved by Medical Ethics Committee of the Zhejiang Blood Center (Ethics No. Provincial Blood Center Ethics Review 2022 Research No. 001). RESULTS: A novel HLA-DRB1*12 allele has been identified, and the full coding sequence has been submitted to the GenBank database (No. OR101190), and the length of submitted sequence was 801 bp, which was officially named as HLA-DRB1*12:106 by the WHO Nomenclature Committee for Factors of the HLA System (submission No. HWS10066755). Compared with the sequence of the highest homology (HLA-DRB1*12:01:01:01 allele), a single nucleotide change was identified at position 344 T>G in the exon 2 of the HLA-DRB1*12:106, which has resulted in replacement of Valine by Glycine at residue 86. The HLA genotype of the proband was determined as HLA-A*02:01, 11:01;-B*13:02, 40:01;-C*01:02, 03:03;-DRB1*07:01, 12:106;-DRB3*01:01;-DRB4*01:03;-DQA1*02:01,04:01;-DQB1*02:02,04:02;-DPA1*01:03,01:03; -- DPB1*02:01:02G,04:01:01G. CONCLUSION A novel HLA-DRB1 allele has been identified in the Chinese population. The mutated amino acid, located in the peptide binding region of the β chain, may affect the binding characteristics of antigen peptides.
Humans ; HLA-DRB1 Chains/genetics* ; Alleles ; Base Sequence ; Genotype ; Male ; High-Throughput Nucleotide Sequencing ; Blood Donors

OBJECTIVE: To explore the clinical features and genetic mutation sites of 28 patients with Congenital fibrinogen disorders (CFDs). METHODS: A total of 28 unrelated CFDs patients admitted to Wenzhou People's Hospital from June 2018 to April 2023 were enrolled into this research. A total of 2.7 mL of peripheral blood was collected from each patient for coagulation function tests, which included thrombin time (TT), fibrinogen activity (Fg:C), fibrinogen antigen (Fg:Ag), and gene detection. The Sanger sequencing method was employed to verify variations in the fibrinogen (Fg) protein-coding gene across 28 patients. Bioinformatics analyses, including harmfulness analysis, conservation analysis across different species, and spatial simulation predictions of variant proteins, were conducted byPolyPhen-2, PROVEAN, SnapGene, and Pymol softwares on the variant sites of these patients. Pathogenicity ratings for the detected variant sites were performed in accordance with the Standards and Guidelines for the Interpretation of Sequence variants by the American College of Medical Genetics and Genomics (ACMG) (hereafter referred to as the ACMG Guidelines). This study received approval from the Ethics Committee of Wenzhou People's Hospital (Approval No. KY-2023-269), and informed consent was obtained from all participants before enrollment. RESULTS: The clinical and genetic characteristics of 28 patients with CFDs in this study were as follows. CLINICAL DATA: Among the 28 patients, 2 cases were diagnosed with type I CFDs, while 26 cases were diagnosed with type II CFDs. And 50.0% (14/28) of the patients exhibited no clinical manifestations, while 28.6% (8/28) presented with bleeding manifestations, and 7.1% (2/28) exhibited thrombus manifestations, 3.6% (1/28) experienced both bleeding and thrombosis. Among female patients, 13.0% (3/23) exhibited a history of habitual abortion. All patients demonstrated TT and a significant decrease in Fg:C. Sanger sequencing revealed a total of 10 types of heterozygous variations in the FGA, FGB, and FGG genes across 28 patients, distributed among 9 loci. The variation at the γ c.902G>A/c.901C>T accounted for the highest proportion (35.7%, 10/28), followed by the Bβ c.569 A>G (28.6%, 8/28). Biological informatics analysis: the Aα c.180+1G>T mutation was predicted to be highly deleterious. And the Aα c.104G>A, Bβ c.425T>G, Bβ c.586C>T, and γ c.902G>A/c.901C>T variations were also predicted to be harmful. Conservation analysis indicates that the 9 variant sites were highly conserved among homo sapiens, musculus, ovis aries, scrofa, and rattus. Spatial conformation analysis revealed that some variations lead to an increase or decrease in the number of hydrogen bonds. ACMG guideline rating analysis: Among the ten variations in the Fg protein-coding genes FGA, FGB, and FGG identified in 28 patients, 9 variations (Aα c.104G>A, Aα c.180+1G>T, Bβ c.425T>G, Bβ c.569A>G, Bβ c.586C>T, Bβ c.643G>A, γ c.901C>T, γ c.902G>A, γ c.1001A>C) were classified as pathogenic, while one variation (γ c.908C>G) was classified as likely pathogenic. CONCLUSION In this study, the majority of CFDs patients are diagnosed with type II CFDs, with 50% presenting clinical symptoms predominantly manifesting as bleeding, thrombosis, and recurrent miscarriage. The mutation hotspots are mainly located in exon 2 of FGA, exon 4 of FGB, and exon 8 of FGG.
Humans ; Female ; Male ; Afibrinogenemia/congenital* ; Fibrinogen/metabolism* ; Mutation ; Genotype ; Adult ; Child ; Adolescent ; Child, Preschool ; Infant

OBJECTIVE: To carry out serological and molecular tests on 12 blood donors and family members of one proband with discrepancy results for ABO serological typing. METHODS: Twelve blood donors with ABO discrepancies identified by the Blood Center of Shaanxi Province from March 2015 to December 2023 and family members of one proband were selected as the study subjects. Serological blood typing was carried out to determine their blood phenotype. ABO genotype of the samples was determined by direct sequencing of amplicons of exons 1 to 7 and cloning sequencing of amplicons of exons 6 and 7. This study has been approved by the Ethics Committee of Blood Center of Shaanxi Province (202328). RESULTS: Serological results showed that 5 samples were Aweak, 4 samples were Aweak with anti-A1 antibody, and 3 samples were AweakB with anti-A1. Direct sequencing and cloning sequencing results showed that all 12 samples had the haplotype ABO*A1.01/c.389T>C, and family studies showed that the allele could be stably inherited. Glycosyltransferase activity in the plasma was decreased in all samples. CONCLUSION The c.389T>C variant of the ABO*A1.01 allele can alter the encoded amino acid p.Leu130Pro, which weakens the activity of A glycosyltransferase, ultimately leading to the weak expression of A antigen.
Humans ; ABO Blood-Group System/genetics* ; Blood Donors ; Alleles ; Male ; Female ; Exons ; Genotype ; China ; Adult ; Base Sequence ; Haplotypes

OBJECTIVE: To assess the association of single nucleotide polymorphisms (SNPs) of interleukin-23 receptor (IL-23R) gene with susceptibility to psoriasis. METHODS: Two hundred and ten psoriasis patients admitted to Xinxiang Central Hospital from January 2019 to December 2024 were selected as the study group, and 210 healthy individuals undergoing physical examination during the same period were selected as the control group. 3 mL of peripheral venous blood sample was collected from each individual from the two groups, and PCR-Restriction fragment length polymorphism (PCR-RFLP) assay was used to determine the polymorphisms of the IL-23R gene at rs2201841, rs1004819, rs10889677, rs1343151 and rs1495965 loci. Genotypic and allelic distribution of each SNP locus was calculated to assess the association between SNPs of the IL-23R gene with the onset of psoriasis, and the difference in serum IL-23 levels among patients with different genotypes at each locus was compared. This study was approved by the Medical Ethics Committee of Xinxiang Central Hospital (Ethic No. 2024-749). RESULTS: The results showed that the frequency of CC genotype at rs1004819 locus of the study group was significantly higher than that of the control group (26.19% vs. 18.10%, P < 0.05), and the frequency of C allele was also significantly higher than that of the control group (54.05% vs. 42.62%, P < 0.05). There was no significant difference in allelic and genotypic frequencies between the two groups at rs2201841, rs10889677, rs1343151, and rs1495965 loci (P > 0.05). The dominant and recessive inheritance patterns at the rs1004819 locus are associated with susceptibility to psoriasis (P < 0.05), while the different inheritance patterns at rs2201841, rs10889677, rs1343151, and rs1495965 loci are not associated with psoriasis (P > 0.05). The serum IL-23 levels of patients with CC genotype at the rs1004819 locus were higher than those with the CT and TT genotypes (P < 0.05). No significant difference was detected in the serum levels of IL-23 between patients with different genotypes for the rs2201841, rs10889677, rs1343151, and rs1495965 loci (P > 0.05). CONCLUSION The polymorphism at the rs1004819 locus of the IL-23R gene is associated with susceptibility to psoriasis, and individuals carrying the CC genotype and C allele have a higher risk of developing the disease.
Humans ; Psoriasis/genetics* ; Polymorphism, Single Nucleotide ; Receptors, Interleukin/genetics* ; Genetic Predisposition to Disease ; Male ; Female ; Adult ; Middle Aged ; Genotype ; Alleles ; Gene Frequency ; Case-Control Studies ; Interleukin-23/blood*

OBJECTIVE: To explore the association between single nucleotide polymorphism (SNP) rs2073618 and rs3102735 of the TNFRSF11B gene and the susceptibility to gastric cancer. METHODS: A case-control study was conducted. A total of 577 patients with primary gastric cancer treated at Zhenjiang First People's Hospital from May 2013 to June 2017 were selected as the case group, and 678 healthy individuals who underwent physical examinations at the same hospital during the same period were enrolled as the control group. Blood samples were collected from both groups, and genomic DNA was extracted. The target gene fragments were amplified using PCR, and genotyping was performed using the Snapshot technique. Statistical analysis was conducted using SPSS v2.0 software. This study was approved by the Medical Ethics Committee of the Zhenjiang First People's Hospital (Ethics No. 20150083). RESULTS: The smoking rate was significantly higher in the case group than in the control group (P = 0.006). The T>C polymorphism at the rs3102735 locus of the TNFRSF11B gene was significantly associated with an increased risk of gastric cancer (CC vs. TT: OR = 2.164, 95%CI = 1.063~4.406, P = 0.030). In contrast, the rs2073618 polymorphism did not show a significant association with gastric cancer susceptibility (P > 0.05). Stratified analysis by age, gender, smoking status, and drinking status revealed no significant association between the rs2073618 polymorphism and gastric cancer susceptibility (P > 0.05). However, the rs3102735 polymorphism showed a significant association with gastric cancer risk in individuals over 62 years of age (CC vs. TT: OR = 5.44, 95%CI = 1.54~19.21, P = 0.003). CONCLUSION The rs3102735 polymorphism of the TNFRSF11B gene may be associated with susceptibility to gastric cancer, particularly in older populations. This polymorphism could serve as a potential indicator for identifying high-risk groups for gastric cancer.
Humans ; Stomach Neoplasms/genetics* ; Polymorphism, Single Nucleotide ; Male ; Female ; Genetic Predisposition to Disease ; Middle Aged ; Case-Control Studies ; Osteoprotegerin/genetics* ; Aged ; Adult ; Genotype