粘蛋白基因多态性与不同类型胆囊结石之间的关系。
Relationship between mucin gene polymorphisms and different types of gallbladder stones.
作者信息
Ren Gongqing, Fan Yongmao, Zhong Ruizi, Zou Gang, Huang Xiaojun, Zhang Yue
机构信息
The Second Clinical Medical College of Jinan University, Department of Hepatobiliary Pancreatic Surgery, Shenzhen People's Hospital, Shenzhen, 518020, Guangdong, China.
Department of Thoracic Surgery, Shenzhen Luohu Hospital Group Luohu People's Hospital, Shenzhen, China.
出版信息
BMC Med Genomics. 2025 Jan 30;18(1):22. doi: 10.1186/s12920-025-02090-y.
BACKGROUND
Gallstones, 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.
METHODS
For 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.
RESULTS
The 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.
CONCLUSIONS
Polymorphisms 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.
背景
胆结石是一种全球常见的外科疾病，影响约20%的患者。胆结石的形成与胆固醇和胆红素代谢异常、胆囊功能减退、胰岛素抵抗、胆道感染及遗传因素有关。除这些因素外，研究表明黏蛋白在胆结石形成中起作用。本研究旨在探讨不同类型胆结石与黏蛋白基因多态性之间的联系。
方法
为此，本病例对照研究共纳入121例胆囊结石患者（PNS）和107例健康对照者（PNS）。检测了MUC1基因的1个单核苷酸多态性（SNP）（rs4072037）、MUC2基因的3个SNP（rs2856111、rs41532344、rs41349846）、MUC4基因的4个SNP（rs712005、rs2246980、rs2258447、rs2259292）、MUC5基因的7个SNP（rs28415193、rs56047977、rs2037089、rs2075854、rs3829224、rs2672785、rs2735709）、MUC6基因的8个SNP（rs10902268、rs61869016、rs573849895、rs59257210、rs7396383、rs74644072、rs7481521、rs9704308）、MUC17基因的5个SNP（rs10229731、rs73168398、rs4729655、rs55903219、rs74974199）。使用特异性引物通过聚合酶链反应（PCR）扩增SNP位点，随后进行DNA测序。
结果
MUC2基因rs2856111 C/T基因型的频率（OR = 3.81，95%CI：1.06 - 13.68）高于对照组。MUC17基因rs10229731 A/C基因型（OR = 0.33，95%CI：0.12 - 0.95）、rs73168398 G/A基因型（OR = 0.26，95%CI：从0.07到0.98）、MUC6基因rs10902268 G/A基因型（OR = 0.40，95%CI：0.17 - 0.95）的频率低于对照组。MUC2基因rs41532344 T等位基因的频率（OR = 2.55，95%CI：1.06 - 6.13）、MUC4基因rs712005 G等位基因的频率（OR = 2.51，95%CI：1.20 - 5.22）、MUC5B基因rs2037089 C等位基因的频率（OR = 3.54，95%CI：1.14 - 11.01）以及MUC5AC基因rs28415193 G等位基因的频率（OR = 1.77，95%CI：1.02 - 3.07）高于对照组。MUC6基因rs10902268 A等位基因（OR = 0.004，95%CI：0.00 - 0.27）、rs61869016 C等位基因（OR = 0.07，95%CI：0.01 - 0.63）的频率低于对照组。
结论
黏蛋白基因多态性与胆囊结石的形成有关。发现MUC4基因rs712005 G等位基因、MUC5B基因rs2037089 C等位基因、MUC2基因rs41532344 T等位基因以及MUC5AC基因rs28415193 G等位基因使个体易患该疾病。MUC6基因rs10902268 A等位基因和rs61869016 C等位基因被确定为保护因素。同时，发现MUC2基因rs2856111 CT基因型使个体易患该疾病。MUC17基因rs10229731 AC基因型、rs73168398 GA基因型以及MUC6基因rs10902268 GA基因型被确定为保护因素。
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