Genetic polymorphism of MUC7:: Allele frequencies and association with asthma
Genetic polymorphism of MUC7:: Allele frequencies and association with asthma
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DOI：
10.1038/sj.ejhg.5200642
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发表时间：
2001-05-01
影响因子：
5.2
通讯作者：
Swallow, DM
中科院分区：
文献类型：
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作者：
Kirkbride, HJ;Bolscher, JG;Swallow, DM
MUC 7编码一种小唾液粘蛋白，以前称为MG 2，一种在促进口腔细菌清除中具有推定作用的糖蛋白。该糖蛋白的中心结构域先前显示包含5个或6个串联重复的23个氨基酸单元，其携带大部分O-连接的聚糖。这两种等位基因形式（MUC 7 *5或MUC 7 *6）的多态性已在本研究中得到证实，在该研究中，我们分析了一个大队列的受试者（n = 375）的各种种族起源。我们还发现了一个新的罕见等位基因与八个串联重复（MUC 7 *8）。MOC 7 *6等位基因频率最高（0.78-0.95）。对22个MUC 7 *5等位基因和34个dMUC 7 *6等位基因的串联重复序列进行测序。在任何MUC 7 *6等位基因中均未检测到序列差异。测序的21个MUC 7 *5等位基因缺乏第4个串联重复序列（结构TR 12356），而1个显示结构TR 12127。MUC 7 *8等位基因的结构为TR 12343456。由于已知MUC 7在细菌结合中的作用，因此其可能参与对胸部疾病的易感性，我们还在我们先前描述的一系列患有和不患有相关哮喘的北方欧洲特应性个体中测试了MUC 7。MUC 7 *5等位基因在特应性哮喘患者中比在非哮喘患者中更少见（P = 0.014，特应性个体中无哮喘的OR为3.13，CI 1.01 - 6.10），所有哮喘患者和所有非哮喘患者之间的频率差异具有统计学意义特异性组与非特异性组之间差异无统计学意义（P = 0.199）。在这项研究中，我们还报告了电泳分析的MUC 7糖蛋白在唾液中的不同MUC 7基因型的个人。
MUC7 encodes a small salivary mucin, previously called MG2, a glycoprotein with a putative role in facilitating the clearance of oral bacteria. The central domain of this glycoprotein was previously shown to comprise five or six tandemly repeated units of 23 amino-acids which carry most of the O-linked glycans. The polymorphism of these two allelic forms (MUC7*5 or MUC7*6) has been confirmed in this study in which we have analysed a large cohort of subjects (n = 375) of various ethnic origins. We have also identified a novel rare allele with eight tandem repeats (MUC7*8). MOC7*6 was the most common allele (0.78-0.95) in all the populations tested. The tandem repeat arrays of 22 MUC7*5 alleles and 34 dMUC7*6 alleles were sequenced. No sequence differences were detected in any of the MUC7*6 alleles. Twenty-one MUC7*5 alleles sequenced lacked the 4th tandem repeat (structure TR12356), while one showed the structure TR12127. The structure of the MUC7*8 allele was TR12343456. Because of the known role of MUC7 in bacterial binding, and thus its potential involvement in susceptibility to chest disease we also tested MUC7 in our previously described series of Northern European atopic individuals with and without associated asthma. The MUC7*5 allele was rarer in the atopic asthmatics than in the atopic non-asthmatics (P = 0.014, OR for no asthma in atopic individuals 3.13, Cl 1.01 - 6.10), and the difference in frequency between all asthmatics and all non-asthmatics was statistically significant (P = 0.009) while there was no difference between atopy and non-atopy (P = 0.199). In this study we also report the electrophoretic analysis of the MUC7 glycoprotein in saliva from individuals of different MUC7 genotype.