HLA-DQB1 Allele Polymorphism Associated with Oral Submucous Fibrosis in Hunan, China

Background and Objective. Oral submucous fibrosis (OSF) is a progressive and irreversible disorder of collagen metabolism, resulting in mucosal fibrosis, oral functional changes, and even malignant transformation. This study investigated the relationship between human leukocyte antigen (HLA)-DQB1 alleles and the susceptibility to OSF in a Hunan Han population, providing a new basis for clinical prevention and treatment of OSF. Methods. 44 OSF patients and 44 healthy volunteers were included in this study. To detect the expression frequency of HLA-DQB1 alleles in the two groups and analyze significant allelic subtypes and their relative risk, polymerase chain reaction (PCR) sequence-specific primers were used. Subsequently, based on the identification of differential genes, we compare the gene expression levels of OSF patients and healthy volunteers expressing differential genes by real-time quantitative PCR. Results. The expression frequency of the HLA-DQB1 <a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"><a:msup><a:mi> </a:mi><a:mi>∗</a:mi></a:msup></a:math> 05 : 02 allele in the OSF group (36.4%) was significantly higher than in the controls (13.6%), and exposure to the HLA-DQB1 <c:math xmlns:c="http://www.w3.org/1998/Math/MathML" id="M2"><c:msup><c:mi> </c:mi><c:mi>∗</c:mi></c:msup></c:math> 05 : 02 allele was strongly related to OSF (OR (95% CI) = 3.619 (1.257,10.421), Wald χ2 = 5.681, <e:math xmlns:e="http://www.w3.org/1998/Math/MathML" id="M3"><e:mi>P</e:mi><e:mo>=</e:mo><e:mn>0.017</e:mn></e:math> ). However, there were no significant differences in the allele expression frequencies of DQB1 <g:math xmlns:g="http://www.w3.org/1998/Math/MathML" id="M4"><g:msup><g:mi> </g:mi><g:mi>∗</g:mi></g:msup></g:math> 02 : 01, DQB1 <i:math xmlns:i="http://www.w3.org/1998/Math/MathML" id="M5"><i:msup><i:mi> </i:mi><i:mi>∗</i:mi></i:msup></i:math> 03 : 03, DQB1 <k:math xmlns:k="http://www.w3.org/1998/Math/MathML" id="M6"><k:msup><k:mi> </k:mi><k:mi>∗</k:mi></k:msup></k:math> 05 : 01, DQB1 <m:math xmlns:m="http://www.w3.org/1998/Math/MathML" id="M7"><m:msup><m:mi> </m:mi><m:mi>∗</m:mi></m:msup></m:math> 05 : 03, DQB1 <o:math xmlns:o="http://www.w3.org/1998/Math/MathML" id="M8"><o:msup><o:mi> </o:mi><o:mi>∗</o:mi></o:msup></o:math> 06 : 02, DQB1 <q:math xmlns:q="http://www.w3.org/1998/Math/MathML" id="M9"><q:msup><q:mi> </q:mi><q:mi>∗</q:mi></q:msup></q:math> 06 : 03, and DQB1 <s:math xmlns:s="http://www.w3.org/1998/Math/MathML" id="M10"><s:msup><s:mi> </s:mi><s:mi>∗</s:mi></s:msup></s:math> 06 : 04 in the OSF group compared with the controls (all <u:math xmlns:u="http://www.w3.org/1998/Math/MathML" id="M11"><u:mi>P</u:mi><u:mo>></u:mo><u:mn>0.05</u:mn></u:math> ). Furthermore, the relative expression level of the HLA-DQB1 <w:math xmlns:w="http://www.w3.org/1998/Math/MathML" id="M12"><w:msup><w:mi> </w:mi><w:mi>∗</w:mi></w:msup></w:math> 05 : 02 allele in the OSF group (3.98 ± 3.50) was significantly higher than in controls (0.70 ± 0.41). Conclusions. There are differences in the HLA-DQB1 allele polymorphisms between the healthy population and patients with oral submucosal fibrosis. Preliminarily, it is suggested that the HLA-DQB1 <y:math xmlns:y="http://www.w3.org/1998/Math/MathML" id="M13"><y:msup><y:mi> </y:mi><y:mi>∗</y:mi></y:msup></y:math> 05 : 02 allele, which has a strong correlation with OSF and great differential expression between patients with OSF and controls, might be a susceptibility gene for OSF in Hunan.