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1.
Hafedh Makni Jamel Daoud Hanène Ben Salah Nedia Mahfoudh Olfa Haddar Héla Karray Tahya Boudawara Abdelmonême Ghorbel Abdelmajid Khabir Mounir Frikha 《Molecular biology reports》2010,37(5):2533-2539
In order to study the association of HLA-A, -B and/or DRB1, DQB1 and the nasopharyngeal carcinoma (NPC), 141 patients affected
with NPC were typed for the HLA class I by serology method of microlymphocytotoxicity. Among these patients 101 were genotyped
for HLA class II system by the PCR-SSP technique. HLA typing results were compared to those of 116 controls. We found that
the HLA-A31 and -A33 antigens were significantly more expressed in patients than in the controls (P = 0.016 and 0.010, respectively) and the HLA-A19 antigen, was significantly more frequent in patients when compared to the
controls (P = 0.007). The HLA-DRB1*03 and DRB1*13 alleles were significantly more frequent in patients as compared to the controls. The
DRB1*01 allele was expressed with a frequency of 20.69% in the controls whereas it was only detected in 3.96% of the NPC patients.
Furthermore, the DQB1*05 allele was expressed at a frequency which was significantly less important in affected patient (P = 0.03), whereas, the DQB1*02 allele was more frequent in patients (P = 0.643 × 10−4). Thus our study revealed a significant increase of HLA-A31, A33, A19, B16, B53 and DRB1*03, DRB1*13 and DQB1*02 alleles
in our patients. These markers could play a predisposing role in the development of NPC. In contrast, a decrease of HLA-B14,
-B35 and DRB1*01 and DQB1*05 alleles was found suggesting a likely protective effect. 相似文献
2.
Falfán-Valencia R Camarena A Juárez A Becerril C Montaño M Cisneros J Mendoza F Granados J Pardo A Selman M 《Human genetics》2005,118(2):235-244
Idiopathic pulmonary fibrosis (IPF) is a chronic disease characterized by fibroblast expansion, and tissue remodeling. It is considered a multifactorial disease but the possible involved genes are largely unknown. Interestingly, studies regarding the possible role of major histocompatibility complex (MHC) are scanty and show contradictory results. In this study, we evaluated the polymorphisms of the MHC, locus HLA-B, -DRB1, and -DQB1 in a cohort of 75 IPF patients and 95 controls by using PCR and hybridization with sequence-specific oligonucleotide probes. In addition, we examined the effect of bronchoalveolar lavage (BAL) from IPF patients with different MHC haplotypes on alveolar epithelial growth rate by WST-1 cell viability assay and on epithelial apoptosis by flow cytometry and by cleaved caspase-3 in cell homogenates. Three haplotypes were significantly increased in IPF: (1) HLA-B*15-DRB1*0101-DQB1*0501 (OR=10.72, CI=1.43–459.6; pC=0.011); (2) HLA-B*52-DRB1*1402-DQB1*0301 (OR=4.42, CI=1.21–24.1; pC=0.024); and (3) HLA-B*35-DRB1*0407-DQB1*0302 (OR=4.73, CI=1.53–19.5; pC=0.005). BAL from patients with the later haplotype significantly reduced epithelial growth rate (∼30%) and caused epithelial cell apoptosis assayed by cleaved caspase-3 (351.7±16.5 pg/106 cells versus 264±24 from controls, and 274±36.8 and 256.5±10.7 from the other haplotypes; P<0.05), and DNA breaks labeling by flow cytometry (23.7±6.9% versus 3.1±0.7% from controls, and 6.5±0.6% and 7.6±1.2% from the other two haplotypes; P<0.01). These findings suggest that some MHC polymorphisms confer susceptibility to IPF, which might be related with the induction of epithelial cell apoptosis, a critical process in the development of the disease. 相似文献
3.
Minzhong Tang James A. Lautenberger Xiaojiang Gao Efe Sezgin Sher L. Hendrickson Jennifer L. Troyer Victor A. David Li Guan Carl E. Mcintosh Xiuchan Guo Yuming Zheng Jian Liao Hong Deng Michael Malasky Bailey Kessing Cheryl A. Winkler Mary Carrington Guy dé The Yi Zeng Stephen J. O'Brien 《PLoS genetics》2012,8(11)
Nasopharyngeal carcinoma (NPC) is an epithelial malignancy facilitated by Epstein-Barr Virus infection. Here we resolve the major genetic influences for NPC incidence using a genome-wide association study (GWAS), independent cohort replication, and high-resolution molecular HLA class I gene typing including 4,055 study participants from the Guangxi Zhuang Autonomous Region and Guangdong province of southern China. We detect and replicate strong association signals involving SNPs, HLA alleles, and amino acid (aa) variants across the major histocompatibility complex-HLA-A, HLA –B, and HLA -C class I genes (PHLA-A-aa-site-62 = 7.4×10−29; P HLA-B-aa-site-116 = 6.5×10−19; P HLA-C-aa-site-156 = 6.8×10−8 respectively). Over 250 NPC-HLA associated variants within HLA were analyzed in concert to resolve separate and largely independent HLA-A, -B, and -C gene influences. Multivariate logistical regression analysis collapsed significant associations in adjacent genes spanning 500 kb (OR2H1, GABBR1, HLA-F, and HCG9) as proxies for peptide binding motifs carried by HLA- A*11:01. A similar analysis resolved an independent association signal driven by HLA-B*13:01, B*38:02, and B*55:02 alleles together. NPC resistance alleles carrying the strongly associated amino acid variants implicate specific class I peptide recognition motifs in HLA-A and -B peptide binding groove as conferring strong genetic influence on the development of NPC in China. 相似文献
4.
Shu-jun Ding Yi Zhang Xiao-mei Zhang Xiao-lin Jiang Bo Pang Yong-hong Song Jian-xing Wang Yao-wen Pei Chuan-fu Zhu Xian-jun Wang Xue-jie Yu 《PLoS neglected tropical diseases》2016,10(10)
ObjectiveSevere fever with thrombocytopenia syndrome (SFTS) is an emerging hemorrhagic fever caused by a tick-borne bunyavirus (SFTSV) in East Asian countries. The role of human leukocyte antigen (HLA) in resistance and susceptibility to SFTSV is not known. We investigated the correlation of HLA locus A, B and DRB1 alleles with the occurrence of SFTS.MethodsA total of 84 confirmed SFTS patients (patient group) and 501 unrelated non-SFTS patients (healthy individuals as control group) from Shandong Province were genotyped by PCR-sequence specific oligonucleotide probe (PCR-SSOP) for HLA-A, B and DRB1 loci.Allele frequency was calculated and compared using χ2 test or the Fisher''s exact test. A corrected P value was calculated with a bonferronis correction. Odds Ratio (OR) and 95% confidence intervals (CI) were calculated by Woolf’s method.ResultsA total of 11 HLA-A, 23 HLA-B and 12 HLA-DRB1 alleles were identified in the patient group, whereas 15 HLA-A, 30 HLA-B and 13 HLA-DRB1 alleles were detected in the control group. The frequencies of A*30 and B*13 in the SFTS patient group were lower than that in the control group (P = 0.0341 and 0.0085, Pc = 0.5115 and 0.252). The ORs of A*30 and B*13 in the SFTS patient group were 0.54 and 0.49, respectively. The frequency of two-locus haplotype A*30-B*13 was lower in the patient group than in the control group(5.59% versus 12.27%, P = 0.037,OR = 0.41, 95%CI = 0.18–0.96) without significance(Pc>0.05). A*30-B*13-DRB1*07 and A*02-B*15-DRB1*04 had strong associations with SFTS resistance and susceptibility respectively (Pc = 0.0412 and 0.0001,OR = 0.43 and 5.07).ConclusionThe host HLA class I polymorphism might play an important role with the occurrence of SFTS. Negative associations were observed with HLA-A*30, HLA-B*13 and Haplotype A*30-B*13, although the associations were not statistically significant. A*30-B*13-DRB1*07 had negative correlation with the occurrence of SFTS; in contrast, haplotype A*02-B*15-DRB1*04 was positively correlated with SFTS. 相似文献
5.
Published data on the association between β1-adrenergic receptor gene polymorphisms and idiopathic dilated cardiomyopathy (IDCM) risk are inconclusive. To derive a more
precise estimation of the relationship, a meta-analysis was performed. A total of 12 case–control studies including 2642 cases
and 3136 controls provided data on the association between β1-adrenergic receptor gene polymorphisms and susceptibility to IDCM. Overall, no significantly elevated risk was associated
with Arg389Gly polymorphisms for all genetic models. In the subgroup analysis by ethnicity, no statistically increased risk
was found for Gly389Gly versus Arg389Arg (OR 0.73; 95% CI 0.54–0.99; P
h = 0.35) and Gly389Gly versus Arg389Arg + Arg389Gly (OR 0.75; 95% CI 0.55–1.01; P
h = 0.52) among Europeans. Meanwhile, significantly increased risk was found among Asians based on the relatively small sample
size. Further, significantly elevated IDCM risk was associated with Ser49Gly polymorphisms for all genetic models. When stratified
by ethnicity, statistical association was found among Asians for Gly49Gly versus Ser49Ser (OR 4.56; 95% CI 1.36–15.23; P
h = 0.10) and Gly49Gly versus Ser49Ser + Ser49Gly (OR 4.49; 95% CI 1.33–15.15; P
h = 0.12), but not among Europeans. In summary, this meta-analysis suggests that no statistically increased risk was found
between β1-adrenergic receptor gene polymorphisms and susceptibility to IDCM among Europeans. 相似文献
6.
Tumor necrosis factor-alpha (TNF-α) has been regarded as a candidate gene for Crohn’s disease (CD) based on its inflammatory function in immune reaction and
the clinical effectiveness of anti-TNF-α therapy. However, studies to date have reported inconsistent findings for the association
between TNF-α and CD. The PubMed, EMBASE, and Medline databases were systematically reviewed from all English language publications
up to April, 2011. A total of twenty-nine studies concerning the association between CD and the TNF-α promoter polymorphisms of −308G/A, −857C/T and −238G/A were identified, among of them only twenty-three studies match the
inclusion criteria (including 3,843 cases and 6,260 controls) and were selected for the statistical test. We found that neither
the G allele of −308G/A (OR 1.02, 95% CI 0.87–1.19, P = 0.84), C allele of −857C/T (OR 0.97, 95% CI 0.86–1.09, P = 0.57) and G allele of −238G/A (OR 0.91, 95% CI 0.70–1.18, P = 0.48), and nor their GG (OR 1.05, 95% CI 0.88–1.25, P = 0.59), CC (OR 0.98, 95% CI 0.86–1.12, P = 0.76) and GG (OR 0.92, 95% CI 0.70–1.21, P = 0.55) genotypes were associated with CD susceptibility, respectively. Our meta-analysis demonstrates that three promoter
polymorphisms of TNF-α above may not confer susceptibility to CD. 相似文献
7.
Juhász A Rimanóczy A Boda K Vincze G Szlávik G Zana M Bjelik A Pákáski M Bódi N Palotás A Janka Z Kálmán J 《Neurochemical research》2005,30(8):943-948
Multiple genetic and environmental factors regulate the susceptibility to Alzheimer’s disease (AD). Recently, several independent
studies have reported that a locus on chromosome 14q32.1, where a gene encoding a cholesterol degrading enzyme of the brain,
called 24-hydroxylase (CYP46A1) is located, has been linked with AD. The single nucleotide polymorphism (T/C) in intron 2
of CYP46 gene has been found to confer the risk for AD. The water soluble 24(S)-hydroxysterol is the product of the CYP46A1, and elevated plasma and cerebrospinal fluid hydroxysterol concentrations have
been found in AD, reflecting increased brain cholesterol turnover or cellular degradation, due to the neurodegenerative process.
A case–control study was performed on 125 AD and 102 age- and gender-matched control subjects (CNT) from Hungary, to test
the association of CYP46 T/C and apolipoprotein E (ApoE) gene polymorphisms in AD. The frequency of the CYP46 C allele was
similar (χ2=0.647, df=1, P=0.421, exact P=0.466, OR=0.845; 95% CI: 0.561–1.274) in both groups (CNT: 27%; 95% CI: 21.3–33.4; AD 30%; 95% CI: 25.0–36.3). The ApoE ɛ4
allele was significantly over-represented (χ2=11.029, df=2, P=0.004) in the AD population (23.2%; 95% CI: 18.2–29.0) when compared with the CNT (11.3%; 95% CI: 7.4–16.6). The presence
or absence of one or two CYP46C alleles together with the ApoE ɛ4 allele did not increase the risk of AD (OR=3.492; 95% CI:
1.401–8.707; P<0.007 and OR=3.714; 95% CI: 1.549–8.908; P<0.003, respectively). Our results indicate that the intron 2 T/C polymorphism of CYP46 gene (neither alone, nor together
with the ɛ4 allele) does not increase the susceptibility to late-onset sporadic AD in the Hungarian population. 相似文献
8.
The EPAS1 gene influences the aerobic–anaerobic contribution in elite endurance athletes 总被引:2,自引:0,他引:2
Henderson J Withford-Cave JM Duffy DL Cole SJ Sawyer NA Gulbin JP Hahn A Trent RJ Yu B 《Human genetics》2005,118(3-4):416-423
Absract
EPAS1 is a gene involved in complex oxygen sensing. It is expressed in microvascular endothelial cells, lung epithelial cells, cardiac myocytes and the brain. An association study was undertaken comparing elite endurance athletes classified into two groups according to a power–time model of performance intensity: power–time-maximum (PT-MAX; N=242, event duration 50 s to 10 min) and power–time–steady state (PT-SS; N=151, event duration ~2–10 h), with normal controls (N=444) using 12 SNPs across EPAS1. Ordinal regression analysis of allele frequencies revealed significant differences at SNPs 2 and 3 (P=0.01). Haplotype analysis revealed the presence of haplotypes involving SNPs 2–5 that significantly differentiated (P<0.05) the groups based on an ordinal ranking using the power–time classification. These same haplotypes differentiated the PT-MAX group in which a significant decrease in a haplotype (F: G-C-C-G; OR=0.57, P=0.02, 95% CI 0.36–0.92) and increase in a second haplotype (G: A-T-G-G; OR=1.75, P=0.03, 95% CI 1.05–2.91) was observed compared to controls. The PT-SS group was differentiated from the PT-MAX group by a third haplotype (H: A-T-G-A; OR=0.46, P=0.04, 95% CI 0.22–0.96). Since EPAS1 has a role as a sensor capable of integrating cardiovascular function, energetic demand, muscle activity and oxygen availability into physiological adaptation, we propose that DNA variants in EPAS1 influence the relative contribution of aerobic and anaerobic metabolism and hence the maximum sustainable metabolic power for a given event duration. 相似文献
9.
Ziver Sahin Muge Bıcakcıgil Kenan Aksu Sevil Kamali Servet Akar Fatos Onen Omer Karadag Zeynep Ozbalkan Askin Ates Huseyin TE Ozer Vuslat Yilmaz Emire Seyahi Mehmet A Ozturk Ayse Cefle Veli Cobankara A Mesut Onat Ercan Tunc Nursen Düzgün Sibel Z Aydin Neslihan Yilmaz İzzet Fresko Yasar Karaaslan Sedat Kiraz Nurullah Akkoc Murat Inanc Gokhan Keser F Aytul Uyar Haner Direskeneli Güher Saruhan-Direskeneli 《Arthritis research & therapy》2012,14(1):R27-5
Introduction
HLA-B*51 and HLA-B*52 are two close human leukocyte antigen (HLA) allele groups with minor amino acid differences. However, they are associated with two different vasculitides (HLA-B*51 in Behçet's disease and HLA-B*52 in Takayasu's arteritis (TAK)) and with major clinical and immunological differences. In this study, we aimed to screen a large cohort of TAK patients from Turkey for the presence of HLA-B*51 and HLA-B*52 as susceptibility and severity factors.Methods
TAK patients (n = 330) followed at a total of 15 centers were included in the study. The mean age of the patients was 37.8 years, and 86% were women. DNA samples from the patients and healthy controls (HC; n = 210) were isolated, and the presence of HLA-B*51 or HLA-B*52 was screened for by using PCR with sequence-specific primers.Results
We found a significant association of HLA-B*52 with TAK (20.9% vs HC = 6.7%, P = 0.000, OR = 3.7, 95% CI = 2.02 to 6.77). The distribution of HLA-B*51 did not differ between TAK patients and HCs (22.7% vs 24.8%, OR = 0.9, 95% CI = 0.60 to 1.34). The presence of HLA-B*52 decreased in late-onset patients (> 40 years of age; 12.0%, P = 0.024, OR = 0.43, 95% CI = 0.20 to 0.91). Patients with angiographic type I disease with limited aortic involvement also had a lower presence of HLA-B*52 compared to those with all other disease subtypes (13.1% vs 26%, P = 0.005, OR = 0.43, 95% CI = 0.23 to 0.78).Conclusions
In this study, the previously reported association of TAK with HLA-B*52 in other populations was confirmed in patients from Turkey. The functional relevance of HLA-B*52 in TAK pathogenesis needs to be explored further. 相似文献10.
A number of studies have tested the association of the complement receptor 1 (CR1) and Interleukin-10 (IL10) polymorphisms with systemic lupus erythematosus (SLE), but reported conflicting results. The aim of the study is to explore whether the CR1 and IL10 genes are associated with SLE susceptibility. We surveyed studies on the CR1 and IL10 polymorphisms and SLE using comprehensive Medline search and review of the references. A meta-analysis was conducted in a fixed effects model or random effects model based on between-study heterogeneity. Eighteen comparisons from 13 studies were included in the CR1 meta-analysis and a total of 16 separate comparisons were used for the IL10 meta-analysis. The CR1 meta-analysis showed no significant association of the CR1 functional polymorphisms with SLE. In contrast, the S structural variant of the CR1 showed a significant association (OR=1.544, 95% CI, 1.217–1.959, P<0.001). Stratification by ethnicity indicated that the CR1 S variant was associated with SLE in Caucasians (OR=1.667, 95% CI, 1.193–2.357, P=0.003). The IL10 meta-analysis showed a significant association between SLE and the G11 allele of IL10.G (OR=1.279, 95% CI; 1.027–1.593, P=0.028) in whole populations, and IL10 promoter −1082G allele was associated with SLE in Asians (OR=1.358, 95% CI; 1.015–1.816, P=0.039). In conclusion, the CR1 meta-analysis revealed the association of the S structural variant of the CR1 with SLE and the IL10 meta-analysis showed the association of IL10.G11 allele and SLE in whole populations and the association between promoter -A1082G polymorphism and SLE in Asians. 相似文献