Frequency of P2RX7 A1513C and TLR2 -196 to -174 ins/del in healthy Polish individuals.

abstract：:Sunlight/ultraviolet (UV) irradiation has been recognized as an important risk factor for developing systemic lupus erythematosus (SLE). However, the interpretation of genetic variations involved in UV-light sensitivity is largely unknown. Recent studies indicated that two genetic variations of ERCC2/XPD gene (rs17997...

journal_title：International journal of immunogenetics

authors： Wan L,Lin YJ,Sheu JJ,Huang CM,Tsai Y,Tsai CH,Wong W,Tsai FJ

更新日期：2009-02-01 00:00:00

abstract：:According to the IMGT/HLA Database, the DNA sequence of A*11:53 is identical to A*11:02:01 in exons 2, 3, 4 and 5 except at codon 276. A*11:53 was reported as a rare variant of A*11, while A*11:02:01 was understood to be the second most frequently observed variant of A*11 after A*11:01:01 in Taiwanese. We sequenced HL...

journal_title：International journal of immunogenetics

authors： Yang KL,Chu CC,Marsh SG,Lin PY

更新日期：2012-12-01 00:00:00

abstract：:The objective was to analyze the possible involvement of tumour necrosis factor-alpha (TNF-α) -308 G/A promoter polymorphism in the susceptibility and/or the disease profile of rheumatoid arthritis (RA) in Egyptian patients. TNF-α-308 G/promoter polymorphism detection by amplification refractory mutation system (ARMS)...

journal_title：International journal of immunogenetics

authors： Mosaad YM,Abdelsalam A,El-Bassiony SR

更新日期：2011-10-01 00:00:00

abstract：:To identify HLA-B*15 subtypes distribution in Han population in Beijing, People's Republic of China, 826 unrelated healthy individuals were typed using the polymerase chain reaction-sequence-based typing method. Within the 246 HLA-B*15 positive individuals, 29 HLA-B*15 alleles were identified, the most predominant of ...

journal_title：International journal of immunogenetics

authors： Yang G,Deng YJ,Qin H,Zhu BF,Chen F,Shen CM,Sun ZM,Chen LP,Wu J,Mu HF,Lucas R

更新日期：2010-06-01 00:00:00

abstract：:The human platelet alloantigen (HPA) 4b allele is rarely observed in Caucasians and the observed incidence in Asians is usually lower than 1.0%. We report the first Brazilian with the allele HPA-4b, and were able to determined that he inherited it from his father. ...

journal_title：International journal of immunogenetics

authors： Toralles-Pereira C,de M C Pardini MI,Deffune E,Machado PE

更新日期：2005-06-01 00:00:00

abstract：:Human papillomavirus (HPV) infection can lead to the development of productive epithelial lesions and cervical cancer. Most cervical HPV infections are solved by cell-mediated immunity within 1-2 years, and it is known that chronic inflammation predisposes to lesions progression and tumour development. In this context...

journal_title：International journal of immunogenetics

authors： Mangieri LFL,Sena MM,Cezar-Dos-Santos F,Trugilo KP,Okuyama NCM,Pereira ÉR,Maria GCQ,Watanabe MAE,de Oliveira KB

更新日期：2019-10-01 00:00:00

abstract：:Interleukin-18 (IL-18) plays a vital role in both innate and acquired immunity. We analysed polymorphisms at -607(C/A) and -137(G/A) in the promoter region of IL-18 gene by allele-specific polymerase chain reaction in normal healthy subjects (n = 173) and patients with pulmonary tuberculosis (n = 165). Allele, genotyp...

journal_title：International journal of immunogenetics

authors： Harishankar M,Selvaraj P,Rajeswari DN,Anand SP,Narayanan PR

更新日期：2007-10-01 00:00:00

abstract：:Leprosy is a chronic infectious disease caused by Mycobacterium leprae, which mainly affects the skin and nervous system. The disease has several clinical forms. This study investigated the MICA and HLA-B genes in 223 samples from leprosy patients and 201 samples from healthy individuals matched for age, gender and et...

journal_title：International journal of immunogenetics

authors： do Sacramento WS,Mazini PS,Franceschi DA,de Melo FC,Braga MA,Sell AM,Tsuneto LT,Visentainer JE

更新日期：2012-06-01 00:00:00

abstract：:Perforin is one of the key effector molecules of cytotoxic T cells and natural killer cells. The influence of HLA-DRB1 alleles on peripheral blood perforin-positive CD4, CD8, CD16 and CD 56 cells was studied by flow cytometry. HLA-DRB1 typing was done in normal healthy subjects (NHS: n = 156) and patients with pulmona...

journal_title：International journal of immunogenetics

authors： Rajeswari DN,Selvaraj P,Raghavan S,Jawahar MS,Narayanan PR

更新日期：2007-10-01 00:00:00

abstract：:The genetic and immunophenotypic characteristics of a 3-year-old patient with Blau syndrome (BS), an early onset sarcoidosis caused by mutations in NOD2, were investigated. Molecular analysis of NOD2 gene was achieved by PCR and direct nucleotide sequencing. Immunophenotyping included cytometric analysis of memory-eff...

journal_title：International journal of immunogenetics

authors： Jimenez-Martinez MC,Cruz F,Groman-Lupa S,Zenteno JC

更新日期：2011-06-01 00:00:00

abstract：:The single nucleotide polymorphism (SNP) G949T in the mannose-binding lectin ( MBL ) 1 gene has been associated with low MBL-A concentration in serum and detected at different frequencies in various European pig populations. However, the origin of this SNP is not known. Part of the MBL1 gene was sequenced in 12 wild b...

journal_title：International journal of immunogenetics

authors： Bergman IM,Sandholm K,Ekdahl KN,Okumura N,Uenishi H,Guldbrandtsen B,Essler SE,Knoll A,Heegaard PM,Edfors I,Juul-Madsen HR

更新日期：2013-04-01 00:00:00

abstract：:Single nucleotide polymorphisms within the promoter or other regulatory sequences of cytokine genes were evaluated and compared between an Iranian population and populations of different ethnic/geographical background. In 40 healthy Iranian subjects, cytokine typing was performed by polymerase chain reaction-sequence-...

journal_title：International journal of immunogenetics

authors： Bagheri M,Abdi-Rad I,Omrani D,Khalkhali HR

更新日期：2006-06-01 00:00:00

abstract：:Polymorphic Alu insertions (POALINs) are found throughout the human genome and have been used in various studies to infer geographic origin of human populations. The main aim of this study was to determine the allele and haplotype frequencies of five POALINs, AluHF, AluHG, AluHJ, AluTF and AluMICB, within the major hi...

journal_title：International journal of immunogenetics

authors： Kulski JK,Mawart A,Marie K,Tay GK,AlSafar HS

更新日期：2019-08-01 00:00:00

abstract：:In the present study, DNA typing for human leucocyte antigen (HLA)-DPB1, -DRB1, and -DQB1 was performed using polymerase chain reaction-sequence-based-typing (PCR-SBT) method on 94 randomly selected, healthy, unrelated individuals from the Ewenki ethnic population in Inner Mongolia Autonomous Region of China. A total ...

journal_title：International journal of immunogenetics

authors： Su X,Bi L,Hai R,Qimuge S,Ying M,Bahring S,Gong M

更新日期：2007-12-01 00:00:00

abstract：:Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by autoantibodies directed mainly against desmoglein-1. The purpose of this study was to determine whether differential susceptibility to endemic PF in Brazil (fogo selvagem) is associated with polymorphisms at the cytogenetic location 1p13.2. Four s...

journal_title：International journal of immunogenetics

authors： Lobo-Alves SC,de Oliveira LA,Petzl-Erler ML

更新日期：2019-06-01 00:00:00

abstract：:We have characterized the HLA-A, -B, -DRB1, -DQA1 and -DQB1 profiles of three major ethnic groups living in Chelyabinsk Region of Russian South Urals, viz., Russians (n = 207), Bashkirs (n = 146) and Tatars (n = 135). First field level typing was performed by PCR using sequence-specific primers. Estimates included car...

journal_title：International journal of immunogenetics

authors： Suslova TA,Burmistrova AL,Chernova MS,Khromova EB,Lupar EI,Timofeeva SV,Devald IV,Vavilov MN,Darke C

更新日期：2012-10-01 00:00:00

abstract：:Cytotoxic T lymphocytes (CTLs) play an essential role in the control of viral replication during human immunodeficiency virus (HIV) infection. However, the efficacy of the CTL response varies between individuals. We tested the hypothesis that genetic polymorphisms in the lytic effector molecule perforin could influenc...

journal_title：International journal of immunogenetics

authors： McIlroy D,Meyer L,Dudoit Y,Samri A,Delfraissy JF,Autran B,Debré P,Theodorou I

更新日期：2006-04-01 00:00:00

abstract：:HLA-DQB1*06:48 has single nucleotide polymorphisms within codons 70 and 62 of exon 2 (GGG>AGG and AAG>AAC) relative to HLA-DQB1*06:02:01 and HLA-DQB1*06:37. This results in amino acid differences (G>R and K>N) that will change the polarity and charge of the encoded antigen and may therefore affect its peptide repertoi...

journal_title：International journal of immunogenetics

authors： Foster L,Tate D,Poulton K

更新日期：2013-08-01 00:00:00

abstract：:Haematopoietic stem cell transplantation (HSCT), using unrelated donors (UD), is now a common modality of treatment for individuals with a variety of different diseases. HLA matching has been shown to have a significant impact on patient outcome. This study includes 423 unrelated UK patient/donor pairs. The patients a...

journal_title：International journal of immunogenetics

authors： Shaw BE

更新日期：2008-08-01 00:00:00

abstract：:The distributions of HLA allele and haplotype are variable in different ethnic populations and the data for some populations have been published. However, the data on HLA-C and HLA-DQB1 loci and the haplotype of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci at a high-resolution level are limited in Zhejiang Han popu...

journal_title：International journal of immunogenetics

authors： Chen N,Wang W,Wang F,Dong L,Zhao S,Zhang W,He J,Huang H,Zhu F

更新日期：2019-02-01 00:00:00

abstract：:Catalase (CAT) is an antioxidant enzyme and plays a significant role in the protection against oxidative stress by reducing hydrogen peroxide. The CAT cDNA of Eriocheir sinensis (EsCAT) was cloned via RACE technique. The complete sequence of EsCAT cDNA consisted of a 5' untranslated regions (UTR) of 224 bp, a 3' UTR o...

journal_title：International journal of immunogenetics

authors： Wang M,Wang L,Zhou Z,Gao Y,Wang L,Shi X,Gai Y,Mu C,Song L

更新日期：2013-06-01 00:00:00

abstract：:The African buffalo (Syncerus caffer) has been implicated as the reservoir of several bovine infectious agents. However, there is insufficient information on the protective immune responses in the African buffalo, particularly in infected animals. In this study, we analysed Th1 cytokines IL-2 and IFN-γ, and Th2 cytoki...

journal_title：International journal of immunogenetics

authors： Suzuki S,Konnai S,Okagawa T,Githaka NW,Kariuki E,Gakuya F,Kanduma E,Shirai T,Ikebuchi R,Ikenaka Y,Ishizuka M,Murata S,Ohashi K

更新日期：2012-04-01 00:00:00

abstract：:The T-cell immunoglobulin and mucin domain 3 (TIM-3) has been shown to be associated with susceptibility to rheumatoid arthritis (RA). In this study, we investigated the association of four single-nucleotide polymorphisms (SNPs) of the TIM-3 gene with RA susceptibility in Chinese Hui and Han groups. Using restriction ...

journal_title：International journal of immunogenetics

authors： Xu J,Yang Y,Liu X,Wang Y

更新日期：2011-12-01 00:00:00

abstract：:Genes involved in regulation of the nuclear factor - kappa B (NF-κB) pathway are suggested to play a role in the pathogenesis of acute myeloid leukaemia (AML). The present study aimed to assess the association between the NF-κB1, TRAF3 and TLRs genes single nucleotide polymorphisms (SNPs) and disease susceptibility as...

journal_title：International journal of immunogenetics

authors： Rybka J,Gębura K,Wróbel T,Wysoczańska B,Stefanko E,Kuliczkowski K,Bogunia-Kubik K

更新日期：2016-04-01 00:00:00

abstract：:It is now over forty years since the first associations between particular HLA antigens and disease susceptibility were described, and the identification of large numbers HLA-associated diseases parallels our increased understanding of the genetic complexity of the HLA system and its extensive polymorphism. However, s...

journal_title：International journal of immunogenetics

authors： Howell WM

更新日期：2014-02-01 00:00:00

abstract：:Many genes related to innate and adaptive immunity reside within the major histocompatibility complex (MHC) and have been associated with a multitude of complex, immune-related disorders. Despite years of genetic study, this region has seen few causative determinants discovered for immune-mediated diseases. Reported a...

journal_title：International journal of immunogenetics

authors： Clark PM,Kunkel M,Monos DS

更新日期：2015-12-01 00:00:00

abstract：:Most humans lack a functional CASP12 gene, with the nonfunctional variant (CASP12p1), found in 100% of the Caucasian and east Asian population, and in approximately 80% of people of African descent. However, 20% of Africans carry an intact allele of CASP12, which produces a full-length pro-enzyme and increases the ris...

journal_title：International journal of immunogenetics

authors： Yavari M,Brinkley G,Klapstein KD,Hartwig WC,Rao R,Hermel E

更新日期：2012-10-01 00:00:00

abstract：:Hashimoto's thyroiditis (HT) is the most prevalent autoimmune thyroid disorder caused by an interaction between genes and environmental triggers. Intrathyroid lymphocytic infiltration may lead to progressive destruction of thyroid tissue and consequently to hypothyroidism. Many studies in different populations have sh...

journal_title：International journal of immunogenetics

authors： Djurovic J,Stojkovic O,Ozdemir O,Silan F,Akurut C,Todorovic J,Savic K,Stamenkovic G

更新日期：2015-06-01 00:00:00

abstract：:Food allergy is a potentially fatal immune-mediated disorder with incompletely understood mechanisms. We studied the genetic control of food allergy using major histocompatibility complex-identical mice (H2(s)) and an adjuvant-free method of sensitization. Whereas, transdermal exposure to hazelnut - a model allergenic...

journal_title：International journal of immunogenetics

authors： Parvataneni S,Birmingham NP,Gonipeta B,Gangur V

更新日期：2009-10-01 00:00:00

abstract：:The FCGR locus is characterized by high polymorphism and sequence homology. In particular, the Ile232Thr polymorphism in the FCGR2B gene results in inaccurate genotyping in most published papers. The purpose of the study was to develop an accurate genotyping assay able to discriminate this polymorphism. ...

journal_title：International journal of immunogenetics

authors： Bonatti F,Adorni A,Percesepe A,Martorana D

更新日期：2018-02-01 00:00:00