ArticleBMC medical genomics2025
Relationship between mucin gene polymorphisms and different types of gallbladder stones.
Article in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Periodontitis as a potential predisposing factor for gallstone cholecystitis: exploring the role of chronic systemic inflammation.Surgery today · 2026Observational
- Gut microbiota-derived short-chain fatty acids in gallstones: mechanisms and intervention strategies.Frontiers in microbiology · 2026Review
- Association of Gallstone and Polymorphisms of ABCB11 Gene among the Adult Patients in Iran: A Case Control Study : Gallstone and ABCB11 Gene.Galen medical journal · 2025Article
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6 authors.
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Abstract
backgroundGallstones, a common surgical condition globally, affect around 20% of patients. The development of gallstones is linked to abnormal cholesterol and bilirubin metabolism, reduced gallbladder function, insulin resistance, biliary infections, and genetic factors. In addition to these factors, research has shown that mucins play a role in gallstone formation. This study aims to explore the connection between different types of gallstones and mucin gene polymorphisms.
methodsFor this purpose, a total of 121 patients with gallbladder stones PNS and 107 patients with healthy controls PNS were enrolled in this case-control study. One SNPs (rs4072037) of MUC1 gene、 three SNPs (rs2856111、rs41532344、rs41349846) of MUC2 gene、four SNPs (rs712005、rs2246980、rs2258447、rs2259292) of MUC4 gene、seven SNPs (rs28415193、rs56047977、rs2037089、rs2075854、rs3829224、rs2672785、rs2735709) of MUC5 gene、eight SNPs (rs10902268、rs61869016、rs573849895、rs59257210、rs7396383、rs74644072、rs7481521、rs9704308) of MUC6 gene、five SNPs (rs10229731、rs73168398、rs4729655、rs55903219、rs74974199) of MUC17 gene. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.
resultsThe frequencies of MUC2 rs2856111 C/T genotype (OR = 3.81, 95%CI: 1.06-13.68) was higher than the control group. MUC17 rs10229731 A/C genotype (OR = 0.33, 95%CI: 0.12-0.95), rs73168398 G/A genotype (OR = 0.26, 95%CI: 0.07-0.98), MUC6 rs10902268 G/A genotype (OR = 0.40, 95%CI: 0.17-0.95) at lower frequencies than controls. The frequencies of MUC2 rs41532344 T allele (OR = 2.55, 95%CI: 1.06-6.13), MUC4 rs712005 G allele (OR = 2.51, 95%CI: 1.20-5.22), MUC5B rs2037089 C allele (OR = 3.54, 95%CI: 1.14-11.01) and MUC5AC rs28415193 G allele (OR = 1.77, 95%CI: 1.02-3.07) were higher than the control group. MUC6 rs10902268 A allele (OR = 0.004, 95%CI: 0.00-0.27), rs61869016 C allele (OR = 0.07, 95%CI: 0.01-0.63) at lower frequencies than controls.
conclusionsPolymorphisms in the mucin gene were linked to the formation of gallbladder stones. The MUC4 rs712005 G allele, MUC5B rs2037089 C allele, MUC2 rs41532344 T allele and MUC5AC rs28415193 G allele were found to predispose individuals to the development of the disease. MUC6 rs10902268 A allele and rs61869016 C allele were identified as protective factors. Meanwhile, MUC2 rs2856111 CT genotype was found to predispose individuals to the development of the disease. MUC17 rs10229731 AC genotype, rs73168398 GA genotype and MUC6 rs10902268 GA genotype were identified as protective factors.
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