Journals International Journal of Immun...

International Journal of Immunogenetics
Samia Hamdan, Pontus Wasling, Alexander Lind
Narcolepsy is a sleep disorder caused by an apparent degeneration of orexin/hypocretin neurons in the lateral hypothalamic area and a subsequent decrease in orexin/hypocretin levels in the cerebrospinal fluid. Narcolepsy is classified into type 1 (NT1) and type 2 (NT2). While genetic associations in the human leukocyte antigen (HLA) region and candidate autoantibodies have been investigated in NT1 to imply an autoimmune origin, less is known about the pathogenesis in NT2. Twenty-six NT1 and 15 NT2 patients were included, together with control groups of 24 idiopathic hypersomnia (IH) patients and 778 general population participants...
June 19, 2024: International Journal of Immunogenetics
Fatima Nadat, Brendan Clark
No abstract text is available yet for this article.
June 10, 2024: International Journal of Immunogenetics
Shahid M Baba, Tabasum Shafi, Roohi Rasool, Afaq Hameed, Saba Shafi, Sheikh F Ahmad
Vitamin D deficiency is widespread and poses a significant health concern, as emerging research links it to allergic diseases owing to its immunomodulatory functions. The optimal functioning of vitamin D and its activation depend on its nuclear receptor, vitamin D receptor (VDR). Genetic variants of VDR have been explored as potential factors in autoimmune and allergic diseases, with limited studies on their association with allergic rhinitis (AR). The present investigation aims to analyse the role of three VDR genetic variants - TaqI, FokI and BsmI - in AR susceptibility and their impact on VDR mRNA and serum vitamin D levels...
May 29, 2024: International Journal of Immunogenetics
Anat R Tambur
No abstract text is available yet for this article.
May 24, 2024: International Journal of Immunogenetics
Chih-Chun Wang, I-Chieh Chen, Guan-Cheng Lin, Yi-Ming Chen, Ching-Hui Shen
Penicillin allergy is a potentially life-threatening condition that is common among patients. However, the genetic associations with penicillin allergy are not yet recognized for prevention or diagnosis, particularly in East Asian populations. We conducted a retrospective case-control study using data from the Taiwan Precision Medicine Initiative and analysing DNA samples to identify eight major MHC Class I and Class II loci. We employed imputation methods for accurate HLA typing and enrolled 17,827 individuals who received penicillin...
May 13, 2024: International Journal of Immunogenetics
Fatima Nadat, Brendan Clark
The purpose of this review is to encourage a new perspective on the question of donor-recipient compatibility and post-transplant assessment of graft health based on functional measures. The premise is that we should be better sighted on what (and how) the immune system responds toward rather than what is merely there. Continuance of the pursuit of further and better definition of antigens and antibodies is not however discouraged but seen as necessary to improved understanding of the structural correlates of functional immunity...
May 6, 2024: International Journal of Immunogenetics
Johanna Teräsjärvi, Leena Kainulainen, Ville Peltola, Jussi Mertsola, Antti Hakanen, Qiushui He
Toll-like receptors (TLRs) play an important role in innate immunity. Previous studies have shown that single nucleotide polymorphisms (SNPs) in the genes coding for these innate immune molecules can affect susceptibility to and the outcome of certain diseases. The aim of the present study was to examine the clinical relevance of well-studied TLR1-4 SNPs in individuals who are prone to infections. Four functional SNPs, TLR1 rs5743618 (1805C > A, Ser602Ile), TLR2 rs5743708 (2258G > A, Arg753Gln), TLR3 rs3775291 (1234C > T, Leu412Phe) and TLR4 rs4986790 (896A > G, Asp299Gly), were analysed in 155 patients with recurrent respiratory infections (n = 84), severe infections (n = 15) or common variable immunodeficiency (n = 56), and in 262 healthy controls, using the High Resolution Melting Analysis method...
May 5, 2024: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
April 29, 2024: International Journal of Immunogenetics
Luis Antonio Ochoa-Ramírez, Alba Lissy Corona-Angulo, Efrén Rafael Ríos-Burgueño, Jorge Guillermo Sánchez-Zazueta, Denisse Stephania Becerra-Loaiza, Jesús Salvador Velarde-Félix
Vitamin D status has been involved with coronavirus disease 19 (COVID-19) severity. This may be mediated by vitamin D metabolism regulatory genes. Of interest is the vitamin D receptor (VDR) gene, which has been previously associated with other inflammatory and respiratory diseases. In order to investigate the role of VDR gene polymorphisms in COVID-19 severity and outcome, a total of 292 COVID-19 patients were classified according to severity in moderate (n = 56), severe (n = 89) and critical (n = 147) and, according to outcome in survivor (n = 163) and deceased (n = 129), and analysed for FokI and TaqI VDR gene polymorphisms by polymerase chain reaction-based restriction enzyme digestion...
April 28, 2024: International Journal of Immunogenetics
Alexander Varzari, Elena Tudor, Andrei Corloteanu, Ecaterina Axentii, Iurie Vladei, Igor V Deyneko
Signal transducer and activator of transcription 4 (STAT4) plays a crucial role in the host immune response against Mycobacterium tuberculosis. This study investigates the association between STAT4 gene polymorphisms and pulmonary tuberculosis (TB) risk in the Moldavian population. A total of 272 TB patients and 251 community-matched controls underwent screening for functional single-nucleotide polymorphisms (SNPs) rs897200 and rs7574865 in the STAT4 gene. The minor T allele and the TT/CT genotype of rs897200 demonstrated a significant association with reduced pulmonary TB risk (allelic model: adjusted OR = ...
April 23, 2024: International Journal of Immunogenetics
Rhea McArdle, Rebecca Cope, Afzal Chaudhry, Lisa Sharkey, Sarah Peacock
Despite recent advances that have improved outcomes following intestinal transplantation (ITx), achieving long-term patient survival and rejection-free survival is still challenging. Understanding the relevance of pre-transplant human leukocyte antigen (HLA) donor-specific antibody (DSA) in ITx and the immunomodulatory potential of the liver within the allograft is crucial to providing an accurate assessment of pre-transplant immunological risk, which could influence and improve post-transplant outcomes further...
April 18, 2024: International Journal of Immunogenetics
Stiliano Maimaris, Annalisa Schiepatti, Chiara Scarcella, Carla Badulli, Federico Biagi
No abstract text is available yet for this article.
April 9, 2024: International Journal of Immunogenetics
Ikram-Allah Tanouti, Hassan Fellah, Asmaa Haddaji, Chaimaa Zerrad, Mohamed Tahiri, Wafaa Badre, Khaoula Nfaoui, Pascal Pineau, Soumaya Benjelloun, Sayeh Ezzikouri
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 IL-6 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...
April 2, 2024: International Journal of Immunogenetics
Hai Cheng, Yaoling Ouyang, Chengbin Li
The autophagy gene immunity-related GTPase M (IRGM) can affect the immune response against intracellular pathogens. The study was performed to determine any possible association between three IRGM 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...
March 21, 2024: International Journal of Immunogenetics
Mostafa Saadat
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...
March 20, 2024: International Journal of Immunogenetics
Youssef M Mosaad, Ayman Hammad, Amany Shouma, Mohamed Darwish, Enas M Hammad, Rehab Ar Sallam, Noha T ELTantawi, Heba A Abdel-Azeem, Laila F Youssef, Noha T Abou El-Khier, Iman M Fawzy, Mona Alwasify
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 (IKZF1) rs4132601 and rs11978267 single nucleotide polymorphisms (SNPs) and SLE susceptibility and clinical presentations including lupus nephritis (LN) among Egyptian paediatric patients...
March 17, 2024: International Journal of Immunogenetics
Lin Li, Jiankang Shan, Haixin Fang, Guangqi An, Min Zhang, Pengyi Zhou, Kunpeng Xie, Bo Jin, Haiyan Zhu, Xuemin Jin, Peizeng Yang, Liping Du
Genome-wide association studies analysis has revealed associations between ankylosing spondylitis (AS) and loci on the TBX21 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 TBX21 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...
March 11, 2024: International Journal of Immunogenetics
Steven Jervis, Antony Payton, Arpana Verma, Rachel Thomasson, Kay Poulton
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.
March 10, 2024: International Journal of Immunogenetics
Hao Luo, Linfeng Li, Song Han, Tao Liu
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...
March 10, 2024: International Journal of Immunogenetics
Panagiotis Mallis, Alexandra Siorenta, Erasmia Stamathioudaki, Vasiliki Vrani, George Paterakis
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...
March 8, 2024: International Journal of Immunogenetics
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