{"title":"Association of <i>MBL2</i> gene polymorphisms with type 2 diabetes and its complications in Moroccan population.","authors":"Houda El Alami, Meryem Bouqdayr, Khaoula Errafii, Wajih Rhalem, Lahcen Wakrim, Imane Ettaki, Hassan Ghazal, Najib Al Idrissi, Omar Abidi, Fadel Bakkali, Abderrahim Naamane, Naima Khlil, Salsabil Hamdi","doi":"10.1080/15257770.2025.2466429","DOIUrl":null,"url":null,"abstract":"<p><p>The <i>MBL2</i> gene encodes the mannose-binding lectin protein (MBL), which is secreted by the liver. Several variants of <i>MBL2</i> have been found to be associated with altered serum levels and susceptibility to various chronic diseases. Defects in MBL protein polymerization that result in functional impairments and/or low serum levels may influence genetic susceptibility to type 2 diabetes (T2D) and its complications. Therefore, the present case-control study was conducted to assess the potential association of six <i>MBL2</i> gene variants and haplotypes with susceptibility to T2D and its complications in Morocco. The <i>MBL2</i> gene was genotyped by PCR-sequencing for the promoting, non-coding, and coding regions in 435 individuals. Our findings revealed a significant association between the heterozygous CG and homozygous recessive GG genotypes of the variant at position -221 C > G in the <i>MBL2</i> gene promoter with an increased risk of T2D. Similarly, for +4 C > T in the non-coding region, statistical analysis indicates a strong association with T2D risk, particularly with the heterozygous CT and homozygous recessive TT genotypes. The LYQC haplotype is also found to be associated with T2D risk. Furthermore, the heterozygous CT genotype, and recessive T allele of the variant at position +4 C > T, and heterozygous GA genotype of codon Gly54Asp of the <i>MBL2</i> gene, are associated with protection against hypertension in T2D patients. However, no association was observed between <i>MBL2</i> variants and dyslipidemia in T2D patients. The study concludes that -221 C > G and +4 C > T variants of the <i>MBL2</i> gene significantly contribute to T2D susceptibility in Morocco.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-22"},"PeriodicalIF":1.1000,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nucleosides, Nucleotides & Nucleic Acids","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1080/15257770.2025.2466429","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The MBL2 gene encodes the mannose-binding lectin protein (MBL), which is secreted by the liver. Several variants of MBL2 have been found to be associated with altered serum levels and susceptibility to various chronic diseases. Defects in MBL protein polymerization that result in functional impairments and/or low serum levels may influence genetic susceptibility to type 2 diabetes (T2D) and its complications. Therefore, the present case-control study was conducted to assess the potential association of six MBL2 gene variants and haplotypes with susceptibility to T2D and its complications in Morocco. The MBL2 gene was genotyped by PCR-sequencing for the promoting, non-coding, and coding regions in 435 individuals. Our findings revealed a significant association between the heterozygous CG and homozygous recessive GG genotypes of the variant at position -221 C > G in the MBL2 gene promoter with an increased risk of T2D. Similarly, for +4 C > T in the non-coding region, statistical analysis indicates a strong association with T2D risk, particularly with the heterozygous CT and homozygous recessive TT genotypes. The LYQC haplotype is also found to be associated with T2D risk. Furthermore, the heterozygous CT genotype, and recessive T allele of the variant at position +4 C > T, and heterozygous GA genotype of codon Gly54Asp of the MBL2 gene, are associated with protection against hypertension in T2D patients. However, no association was observed between MBL2 variants and dyslipidemia in T2D patients. The study concludes that -221 C > G and +4 C > T variants of the MBL2 gene significantly contribute to T2D susceptibility in Morocco.
MBL2基因编码甘露糖结合凝集素蛋白(MBL),由肝脏分泌。已发现MBL2的几种变体与血清水平改变和对各种慢性疾病的易感性有关。MBL蛋白聚合缺陷导致功能障碍和/或低血清水平可能影响2型糖尿病(T2D)及其并发症的遗传易感性。因此,本病例对照研究旨在评估摩洛哥6种MBL2基因变异和单倍型与T2D及其并发症易感性的潜在关联。通过pcr测序对435例个体的MBL2基因的促进区、非编码区和编码区进行基因分型。我们的研究结果显示,MBL2基因启动子中-221 C > G位置变异的杂合CG和纯合隐性GG基因型与T2D风险增加之间存在显著关联。同样,对于非编码区的+ 4c > T,统计分析表明与T2D风险密切相关,特别是与杂合子CT和纯合子隐性TT基因型。LYQC单倍型也被发现与T2D风险相关。此外,杂合的CT基因型、+ 4c >t位点变异的隐性T等位基因以及MBL2基因密码子Gly54Asp的杂合GA基因型与T2D患者的高血压保护作用相关。然而,没有观察到MBL2变异与T2D患者血脂异常之间的关联。该研究得出结论,MBL2基因的-221 C > G和+4 C > T变异对摩洛哥人的T2D易感性有显著影响。
期刊介绍:
Nucleosides, Nucleotides & Nucleic Acids publishes research articles, short notices, and concise, critical reviews of related topics that focus on the chemistry and biology of nucleosides, nucleotides, and nucleic acids.
Complete with experimental details, this all-inclusive journal emphasizes the synthesis, biological activities, new and improved synthetic methods, and significant observations related to new compounds.