International Journal of Immunogenetics最新文献

{"title":"HLA-DQ7.5 and coeliac disease","authors":"Stiliano Maimaris, Annalisa Schiepatti, Chiara Scarcella, Carla Badulli, Federico Biagi","doi":"10.1111/iji.12671","DOIUrl":"10.1111/iji.12671","url":null,"abstract":"<p>We have read with great interest the recently published UK NEQAS and BSHI guideline on laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease (CD) by Pritchard et al. (<span>2023</span>). Interpretation of HLA genotyping for CD can be challenging in clinical practice, and sometimes even misleading, and these proposed guidelines provide a valuable framework for standardizing HLA genotyping and its interpretation in the context of CD diagnosis. However, we would like to address a particular point of contention regarding excluding CD in patients expressing only HLA-DQA1*05 (in the form of DQ7.5) in the absence of HLA-DQ2.5, DQ8 and DQ2.2.</p><p>The guideline suggests that the presence of DQA1*05 alone (which occurs in HLA-DQ7.5), without the corresponding DQB1*02 allele to form the DQ2.5 heterodimer in <i>cis</i> or <i>trans</i>, should lead to the exclusion of CD (Pritchard et al., <span>2023</span>). However, in our experience, coeliac patients expressing only HLA-DQ7.5 do exist, and among coeliac patients diagnosed at our centre are roughly as common as those with only DQ8 or only DQ2.2. More precisely at our centre we have diagnosed 6 DQ7.5<sup>+</sup>, 6 DQ2.2<sup>+</sup> and 4 DQ8<sup>+</sup> coeliac patients. This may seem strange at first, but it might be explained by the very high frequency of the DQ7.5 haplotype in the Italian general population (26%), whereas DQ2.2 is less common (15%) and DQ8 is quite rare (2%) (Margaritte-Jeannin et al., <span>2004</span>). These figures differ significantly from those of other populations, as data show a HLA-DQ7.5 prevalence of 17% in France (Margaritte-Jeannin et al., <span>2004</span>), 11% in a European American population (Megiorni et al., <span>2009</span>) and 10% in Scandinavia (Margaritte-Jeannin et al., <span>2004</span>).</p><p>Data in the literature also show that a small, yet significant, subset of coeliac patients express only HLA-DQ7.5. More precisely, estimates show that 0.3%–2.1% of coeliac patients carry only the DQ7.5 allele in the absence of DQ2.5, DQ8 and DQ2.2 (Erlichster et al., <span>2020</span>; Fernández-Bañares et al., <span>2017</span>; Karell et al., <span>2003</span>; Margaritte-Jeannin et al., <span>2004</span>; Megiorni et al., <span>2009</span>; Schiepatti et al., <span>2021</span>; Tinto et al., <span>2015</span>). Moreover, in a large multicentric study on seronegative CD, DQ7.5 alone was also found among seronegative patients (Schiepatti et al., <span>2021</span>). Therefore, although the risk conferred by DQ7.5 alone is indeed very low, it is not negligible and we think that DQ7.5 alone may not ‘automatically’ exclude CD. The exclusion of CD based on DQ7.5 could therefore lead to missed diagnoses in a small minority of coeliac patients carrying only DQ7.5, who could otherwise benefit from a gluten-free diet and appropriate management of their condition.</p><p>Given the potential clinical implications, w","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"192-193"},"PeriodicalIF":2.2,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12671","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140563168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High plasma interleukin-6 level, but not IL-6 gene variants, as a predictive marker for the development of hepatocellular carcinoma in a Moroccan population","authors":"Ikram-Allah Tanouti,&nbsp;Hassan Fellah,&nbsp;Asmaa Haddaji,&nbsp;Chaimaa Zerrad,&nbsp;Mohamed Tahiri,&nbsp;Wafaa Badre,&nbsp;Khaoula Nfaoui,&nbsp;Pascal Pineau,&nbsp;Soumaya Benjelloun,&nbsp;Sayeh Ezzikouri","doi":"10.1111/iji.12669","DOIUrl":"10.1111/iji.12669","url":null,"abstract":"<p>Chronic inflammation triggered by hepatitis B (HBV) and hepatitis C (HCV) viruses elevates interleukin 6 (IL-6) levels, activating pathways that cause liver damage and contribute to hepatocellular carcinoma (HCC) development. In this study, we assessed IL-6 levels and explored the correlation between the rs1800795 and rs1800797 variants of the <i>IL-6</i> gene and the risk of developing HCC. We conducted a case–control study involving 314 participants. Among them, 157 were HCC patients (94 anti-HCV, 22 HBsAg and 41 metabolic dysfunction-associated steatotic liver disease [MASLD]) and 157 controls. Genotyping for <i>IL-6</i> rs1800795 and rs1800797 polymorphisms was performed using real-time polymerase chain reaction (PCR). Additionally, plasma IL-6 levels were determined using enzyme-linked immunosorbent assay. The IL-6 levels were notably higher in patients compared to controls (<i>p</i> &lt; .0001). Among HCC patients, those with MASLD exhibited higher plasma IL-6 levels than those with HCV and HBV (<i>p</i> = .003). In male HCC patients, IL-6 levels were significantly elevated compared to controls (<i>p</i> &lt; .0001). Similarly, female patients showed significantly higher IL-6 levels compared to female controls, though still lower than in male HCC patients (<i>p</i> = .023). However, no significant difference was observed in IL-6 levels between male and female HCC patients (<i>p</i> = .129). Contrastingly, the genotype and allele distributions of the rs1800795 and rs1800797 polymorphisms in the <i>IL-6</i> gene displayed no association with HCC development (all <i>p</i> &gt; .05). In Moroccan HCC patients, chronic liver inflammation is characterized by elevated levels of IL-6, potentially playing a role in the progression of liver disease and tumourigenesis.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"206-216"},"PeriodicalIF":2.3,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140335553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of IRGM gene promoter polymorphisms on susceptibility to chronic HBV infection","authors":"Hai Cheng,&nbsp;Yaoling Ouyang,&nbsp;Chengbin Li","doi":"10.1111/iji.12661","DOIUrl":"10.1111/iji.12661","url":null,"abstract":"<p>The autophagy gene immunity-related GTPase M (<i>IRGM</i>) can affect the immune response against intracellular pathogens. The study was performed to determine any possible association between three <i>IRGM</i> single-nucleotide polymorphisms (SNPs) (rs4958842, rs4958843 and rs4958846) and chronic hepatitis B virus (HBV) infection. A total of 171 chronic HBV-infected individuals and 171 healthy controls were collected. Peripheral blood cells and Sanger sequencing were used to extract genomic DNA and determine the SNP genotypes, respectively. The C allele of rs4958843 is a risk factor for chronic HBV infection in various genetic models, including allelic, codominant and dominant models, with the following respective statistical data: allelic (T vs. C: OR = 1.371, 95% CI = 1.009–1.863, <i>p </i>= .043), codominant (TT vs. CC: OR = 2.137, 95% CI = 1.104–4.138, <i>p </i>= .024) and dominant (TT + TC vs. CC: OR = 1.976, 95% CI = 1.106–3.533, <i>p </i>= .021) models. The genotype and allele distributions of rs4958842 and rs4958846 showed no significant differences between chronic HBV infection patients and healthy controls. <i>IRGM</i> rs4958843 CC genotype carriers had significantly elevated values of alanine transaminase, aspartate transaminase alpha-fetoprotein and total bilirubin (OR = 3.467, 95%CI = 1.167–10.298), which was positively associated with the disease progression of HBV infection. Mutant allele C of <i>IRGM</i> rs4958843 polymorphism is associated with the risk of chronic HBV infection in the Han people in central China and contributes to the disease progression.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"149-156"},"PeriodicalIF":2.2,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Hardy–Weinberg equilibrium in genetic association studies","authors":"Mostafa Saadat","doi":"10.1111/iji.12668","DOIUrl":"10.1111/iji.12668","url":null,"abstract":"<p>STrengthening the REporting of Genetic Association (STREGA) studies strongly recommend that researchers assess the Hardy–Weinberg equilibrium (HWE) in their control groups. The exact frequency of studies in which their control subjects show a significant deviation from the HWE is not well established. Therefore, the present study was conducted. The electronic database PubMed was searched using the terms: ‘meta-analysis’ and ‘polymorphism’. Data of original articles were extracted from meta-analysis. The STREGA statement was published in 2009. Therefore, studies were divided into two groups, before and after the statement. After data collection, quartiles for sample size and minor allele frequency (MAF) were determined separately. A total of 772 independent studies were extracted from these meta-analyses and included in the current study. Multivariate analysis revealed the following associations: (1) Reports published after the STREGA statement (compared to before the statement) were associated with an increased prevalence of deviation from HWE. (2) Reports with sample size Q2–Q4 versus Q1 were associated with an increased prevalence of deviation from HWE. (3) Studies with MAF Q4 versus Q1 were negatively associated with the prevalence of reports of deviation from HWE. We conclude that the STREGA statement failed to change the attitudes and practices of researchers and editors towards the importance of HWE.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"183-186"},"PeriodicalIF":2.2,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140174597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IKZF1 rs4132601 and rs11978267 gene polymorphisms and paediatric systemic lupus erythematosus; relation to lupus nephritis","authors":"Youssef M. Mosaad,&nbsp;Ayman Hammad,&nbsp;Amany Shouma,&nbsp;Mohamed Darwish,&nbsp;Enas M. Hammad,&nbsp;Rehab AR. Sallam,&nbsp;Noha T. ELTantawi,&nbsp;Heba A. Abdel-Azeem,&nbsp;Laila F. Youssef,&nbsp;Noha T. Abou El-Khier,&nbsp;Iman M. Fawzy,&nbsp;Mona Alwasify","doi":"10.1111/iji.12667","DOIUrl":"10.1111/iji.12667","url":null,"abstract":"<p>The demographic factors, the socioeconomic status and the ethnicity of populations are important players that determine the incidence, the prevalence and the spectrum of systemic lupus erythematosus (SLE) clinical presentations in different populations. Therefore, the purpose of the present research was to investigate the possible association between the Ikaros family zinc finger 1 gene (<i>IKZF1)</i> rs4132601 and rs11978267 single nucleotide polymorphisms (SNPs) and SLE susceptibility and clinical presentations including lupus nephritis (LN) among Egyptian paediatric patients. After DNA extraction from Ethylenediaminetetraacetic acid (EDTA) blood samples for 104 paediatric SLE (pSLE) patients and 286 healthy controls, the investigated SNPs (<i>IKZF1</i> rs4132601 and rs11978267) were genotyped using TaqMan-Real-time Polymerase chain reaction (PCR). The G allele, GG and GT genotypes of <i>IKZF1</i> rs4132601 were associated with pSLE (<i>p</i>_c&lt;.001, OR 2.97, 3.2 and 2.25, respectively). The GG and GA haplotype were more frequent in pSLE patients than other haplotypes (<i>p</i>_c&lt;.001, OR 3.47 and <i>p</i>_c = .004, OR = 2.8, respectively). The studied SNPs have no impact on the distinctive features of pSLE. The rs4132601 TG genotype was significantly associated with proliferative LN (<i>p</i>_c = .03) The <i>IKZF1</i> rs4132601 can be considered a risk factor for SLE in the cohort of Egyptian children. The TG genotype of the <i>IKZF1</i> rs4132601 may predispose to proliferative LN.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"173-182"},"PeriodicalIF":2.2,"publicationDate":"2024-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population","authors":"Lin Li,&nbsp;Jiankang Shan,&nbsp;Haixin Fang,&nbsp;Guangqi An,&nbsp;Min Zhang,&nbsp;Pengyi Zhou,&nbsp;Kunpeng Xie,&nbsp;Bo Jin,&nbsp;Haiyan Zhu,&nbsp;Xuemin Jin,&nbsp;Peizeng Yang,&nbsp;Liping Du","doi":"10.1111/iji.12659","DOIUrl":"10.1111/iji.12659","url":null,"abstract":"<p>Genome-wide association studies analysis has revealed associations between ankylosing spondylitis (AS) and loci on the <i>TBX21</i> gene across various populations. This study aimed to investigate if there is a connection between a higher risk of AS in a Chinese population and two polymorphism loci on the <i>TBX21</i> gene. To achieve this, we performed a case–control investigation involving 363 patients with AS and 907 healthy individuals. Genotyping was carried out using the iPLEX Gold genotyping assay. The analysis of genotypes and haplotypes was performed using SPSS 23.0 and SHEsis software. The results revealed no statistically significant correlation between the two specified single-nucleotide polymorphisms of <i>TBX21</i> (rs11657479 C/T and rs4794067 C/T) and susceptibility to AS. However, upon conducting stratification analysis, our findings demonstrated a significant association between rs11657479 and susceptibility to human leucocyte antigen (HLA)-B27⁺ AS in allelic (C vs. T: odds ratio [OR] = 1.52, 95%CI = 1.09–2.11, corrected <i>p</i> [pc] = .028), heterozygous (CT vs. TT: OR = 1.63, 95%CI = 1.13–2.34, pc = .016) and dominant (CT + CC vs. TT: OR = 1.60, 95%CI = 1.12–2.28, pc = .018) models. Furthermore, the haplotype rs4794067/C-rs11657479/C of <i>TBX21</i> was found to increase the risk of HLA-B27⁺ AS cases. In conclusion, our findings indicate a correlation between <i>TBX21</i> gene polymorphism and HLA-B27⁺ AS patients within the Chinese population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"143-148"},"PeriodicalIF":2.2,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of monocyte/macrophage chemokines in pathogenesis of osteoarthritis: A review","authors":"Hao Luo,&nbsp;Linfeng Li,&nbsp;Song Han,&nbsp;Tao Liu","doi":"10.1111/iji.12664","DOIUrl":"10.1111/iji.12664","url":null,"abstract":"<p>Osteoarthritis (OA) is one of the most common degenerative diseases characterised by joint pain, swelling and decreased mobility, with its main pathological features being articular synovitis, cartilage degeneration and osteophyte formation. Inflammatory cytokines and chemokines secreted by activated immunocytes can trigger various inflammatory and immune responses in articular cartilage and synovium, contributing to the genesis and development of OA. A series of monocyte/macrophage chemokines, including monocyte chemotaxis protein (MCP)-1/CCL2, MCP2/CCL8, macrophage inflammatory protein (MIP)-1α/CCL3, MIP-1β/CCL4, MIP-3α/CCL20, regulated upon activation, normal T-cell expressed and secreted /CCL5, CCL17 and macrophage-derived chemokine/CCL22, was proven to transmit cell signals by binding to G protein–coupled receptors on recipient cell surface, mediating and promoting inflammation in OA joints. However, the underlying mechanism of these chemokines in the pathogenesis of OA remains still elusive. Here, published literature was reviewed, and the function and mechanisms of monocyte/macrophage chemokines in OA pathogenesis were summarised. The symptoms and disease progression of OA were found to be effectively alleviated when the expression of these chemokines is inhibited. Elucidating these mechanisms could contribute to further understand how OA develops and provide potential targets for the early diagnosis of arthritis and drug treatment to delay or even halt OA progression.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"130-142"},"PeriodicalIF":2.2,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12664","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygous HLA-DQB1*06:02 combined with T-cell receptor alpha polymorphism results in narcolepsy onset – A familial case report","authors":"Steven Jervis,&nbsp;Antony Payton,&nbsp;Arpana Verma,&nbsp;Rachel Thomasson,&nbsp;Kay Poulton","doi":"10.1111/iji.12666","DOIUrl":"10.1111/iji.12666","url":null,"abstract":"<p>Narcolepsy is a life-long neurological disorder with well-established genetic risk factors. Human leukocyte antigen-DQB1*06:02 remains the strongest genetic predeterminant; however, polymorphisms in genes encoding the T-cell receptor alpha chain are also strongly linked. This case report shows the inheritance pathway of these genetic markers contributing to narcolepsy onset in a 17-year-old female.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"187-191"},"PeriodicalIF":2.2,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12666","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency distribution of HLA class I and II alleles in Greek population and their significance in orchestrating the National Donor Registry Program","authors":"Panagiotis Mallis,&nbsp;Alexandra Siorenta,&nbsp;Erasmia Stamathioudaki,&nbsp;Vasiliki Vrani,&nbsp;George Paterakis","doi":"10.1111/iji.12663","DOIUrl":"10.1111/iji.12663","url":null,"abstract":"<p>Human leukocyte antigens (HLA) represent one of the most polymorphic systems in humans, responsible for the identification of foreign antigens and the presentation of immune responses. Therefore, HLA is considered to play a major role in human disorders, donor-recipient matching and transplantation outcomes. This study aimed to determine the HLA class I and II alleles and haplotypes in the Greek population. Moreover, a comparative analysis of HLA alleles and haplotype frequencies found in Greek and pooled European populations was also performed to acquire a better knowledge about the HLA alleles distribution. A total number of 1896 healthy individuals were typed for their HLA alleles in the National Tissue Typing Center of Greece. High-resolution HLA typing for the HLA-A, -B, -C and -DR, -DQ, -DP with the use of the next-generation sequencing analysis was performed, followed by data analysis for establishing the HLA allele and haplotype differences. The results of this study showed that the most frequent alleles for the HLA-A were the A*02:01:01 (27.1%), *24:02:01 (14.4%), *01:01:01 (9.3%), for the HLA-B were the B*51:01:01 (15.3%), *18:01:01 (9.7%), *35:01:01 (6.8%) and for the HLA-C were the C*04:01:01 (15.4%), *07:01:01 (13.1%), *12:03:01 (9.6%). For the HLA class II, the most frequent alleles for the HLA-DRB1 were the DRB1*11:04:01 (16.4%), *16:01:01 (11.3%), *11:01:01 (9.5%), for the HLA-DQB1 were the DQB1*03:01:01 (30.5%), *05:02:01 (15.1%), *05:01:01 (10.6%) and for the HLA-DPB1 were the DPB1*04:01:01 (34.8%), *02:01:01 (11.6%), *04:02:01 (7.3%). Additionally, the most frequent haplotypes were the A*02:01:01∼C*07:01:01-B*18:01:01∼DRB1*11:04:01 (2.3%), followed by the A*01:01:01∼C*07:01:01∼B*08:01:01∼DRB1*03:01:01 (2.2%), A*24:02:01∼C*04:01:01∼B*35:02:01∼DRB1*11:04:01 (1.4%) and A*02:01:01∼C*04:01:01∼B*35:01:01-DRB1*14:01:01 (1.2%). The results herein were comparable to those obtained from the pooled European populations. Moreover, these results can be used for the improvement of the donor-recipient matching procedure and to understand better the disease association in Greece.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"164-172"},"PeriodicalIF":2.2,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140065155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population","authors":"Jian Dai,&nbsp;Haitao Jiang,&nbsp;Zhaoqi Yang,&nbsp;Chuan Chen,&nbsp;Xiaoming Tang","doi":"10.1111/iji.12662","DOIUrl":"10.1111/iji.12662","url":null,"abstract":"<p>Genome-wide association study identified common variants within the <i>ALDH1A2</i> gene as the susceptible loci of hand osteoarthritis (HOA) in UK and Iceland populations. Located in chromosome 15, <i>ALDH1A2</i> encodes aldehyde dehydrogenase family 1 member A2, which is an enzyme that catalyses the synthesis of retinoic acid from retinaldehyde. Our purposes were to replicate the association of functional variant in <i>ALDH1A2</i> with the development of HOA in the Chinese population. Variant rs12915901 of <i>ALDH1A2</i> was genotyped in 872 HOA patients and 1223 healthy controls. Subchondral bone samples were collected from 40 patients who had undergone a trapeziectomy, and the tissue expression of <i>ALDH1A2</i> was analysed. The chi-square analysis was used to compare the frequency of genotype and risk allele between the HOA cases and controls. The Student <i>t</i> test was used to compare the mRNA expression of <i>ALDH1A2</i> between patients with genotype AA/AG and those with genotype GG. The frequency of genotype AA was significantly higher in HOA patients than in the controls (7.6% vs. 5.1%, <i>p</i> = .01). The frequency of allele A was significantly higher in the patients than in the controls (28.9% vs. 24.6%, <i>p</i> = .005). The mRNA expression of <i>ALDH1A2</i> was 1.31-folds higher in patients with genotype GG than in the patients with genotype AA/AG (0.000617 ± 0.000231 vs. 0.000471 ± 0.000198, <i>p</i> = .04). Variant rs12915901 of <i>ALDH1A2</i> contributed to the susceptibility of HOA in the Chinese population. Allele A of rs12915901 can add to the risk of HOA possibly via down-regulation of <i>ALDH1A2</i> expression.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"157-163"},"PeriodicalIF":2.2,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}