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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1035-1038, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598955

RESUMO

OBJECTIVE: To explore the role of inhibitory KIR (iKIR) and its cognate HLA ligand in the occurrence and development of cervical cancer among ethnic Han Chinese and its potential mechanism. METHODS: Peripheral blood samples from 265 Han Chinese patients with cervical intraepithelial neoplasia (CIN)/cervical cancer and 200 ethnically matched healthy controls were collected. The results of KIR PCR-SSP, HLA PCR-rSSO and KIR3DL1 PCR-SBT, together with cervical cancer data from the TCGA database, were used to assess the association of iKIR genes, receptor-ligand gene combinations, iKIR transcription level in the tumor tissue and the KIR3DL1 alleles with the occurrence and development of cervical cancer. RESULTS: Among the four iKIR genes (KIR2DL1, 2DL2/3, 3DL1 and 3DL2), the frequencies of KIR3DL1 and KIR3DL1-HLA-Bw4 genes among controls were significantly higher than those of the cervical cancer group (96.5% vs. 87.0%, P = 0.018; 81.5% vs. 64.8%, P=0.009). The survival rate of cervical cancer patients with a high transcription level of KIR3DL1 in tumor tissues was significantly higher than those with a low/medium transcription level (P=0.028). The frequency of strong-inhibitory and high-expression KIR3DL1*01502 allele among the healthy population was significantly higher than that of the cervical cancer group (76.0% vs. 59.3%, P =0.015). CONCLUSION: Combined KIR3DL1 and KIR3DL1-HLA-Bw4 can confer a protective effect against the development of cervical cancer, which may be attributed to the strong-inhibitory and high-expression allele of KIR3DL1*01502.


Assuntos
Antígenos HLA-B/genética , Receptores KIR3DL1/genética , Neoplasias do Colo do Útero/genética , Alelos , Grupo com Ancestrais do Continente Asiático , China , Grupos Étnicos , Feminino , Humanos , Fatores de Proteção , Receptores KIR
2.
HLA ; 94(6): 519-521, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31523929

RESUMO

HLA-A*24:02:78 differs from HLA-A*24:02:01:01 in exon 3 by a single nucleotide.

3.
HLA ; 94(6): 543-545, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31502416

RESUMO

HLA-DQB1*06:01:22 differs from HLA-DQB1*06:01:01:01 by one nucleotide substitution in codon 189 in exon 4.

4.
J Hum Hypertens ; 2019 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-31431682

RESUMO

The 2017 American College of Cardiology (ACC)/American Heart Association (AHA) lowered the diagnostic criteria for hypertension. We aimed to explore whether clustering of multiple risk factors are associated with the risk of new-onset hypertension defined by the 2017 ACC/AHA Hypertension Guideline. Subjects who attended ≥2 annual health examinations without baseline hypertension and cardiovascular disease were included. Hypertension was defined according to the 2017 ACC/AHA Hypertension Guideline. Seven predefined risk factors, including age, resting heart rate, overweight or obesity, dyslipidemia, hyperuricemia, impaired glucose regulation, and a poor estimated glomerular filtration rate, were analyzed. A composite, individual-level, cumulative score incorporating these seven risk factors (no = 0 point; yes = 1 point; total range of 0-7 points) was calculated. The association between the cumulative score and the risk of hypertension was analyzed using a Cox regression model. A total of 4424 (21.6%) of 20,190 subjects included had new-onset hypertension during a follow-up duration of 3.6 years. Compared with subjects with 0 points, the adjusted hazard ratios (95% confidence intervals) for the development of hypertension for those with 1, 2, 3, and ≥4 points were 1.21 (1.07-1.38), 1.34 (1.19-1.52), 1.44 (1.26-1.63), and 1.64 (1.44-1.87), respectively (P < 0.001), after adjustment for sex and baseline blood pressure. Age, resting heart rate, overweight/obesity, dyslipidemia, hyperuricemia, impaired glucose regulation, and a poor estimated glomerular filtration rate are associated with an increased risk of future hypertension. When these factors are combined, there is an accumulated increase in risk.

5.
Front Immunol ; 10: 1646, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31379844

RESUMO

Interactions of human natural killer (NK) cell inhibitory receptors with polymorphic HLA-A, -B and -C molecules educate NK cells for immune surveillance against tumor cells. The KIR A haplotype encodes a distinctive set of HLA-specific NK cell inhibiting receptors having strong influence on immunity. We observed higher frequency of KIR A homozygosity among 745 healthy Chinese Southern Han than 836 adult patients representing three types of leukemia: ALL (OR = 0.68, 95% CI = 0.52-0.89, p = 0.004), AML (OR = 0.76, 95% CI = 0.59-0.98, p = 0.034), and CML (OR = 0.72 95% CI = 0.51-1.0, ns). We observed the same trend for NHL (OR = 0.47 95% CI = 0.26-0.88 p = 0.017). For ALL, the protective effect of the KIR AA genotype was greater in the presence of KIR ligands C1 (Pc = 0.01) and Bw4 (Pc = 0.001), which are tightly linked in East Asians. By contrast, the C2 ligand strengthened protection from CML (Pc = 0.004). NK cells isolated from KIR AA individuals were significantly more cytotoxic toward leukemic cells than those from other KIR genotypes (p < 0.0001). These data suggest KIR allotypes encoded by East Asian KIR A haplotypes are strongly inhibitory, arming NK cells to respond to leukemogenic cells having altered HLA expression. Thus, the study of populations with distinct KIR and HLA distributions enlightens understanding of immune mechanisms that significantly impact leukemia pathogenesis.

6.
HLA ; 94(2): 184-185, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31044496

RESUMO

The novel KIR2DL4*037 allele differs from the closest allele KIR2DL4*00501 by a single missense mutation.

7.
HLA ; 94(2): 181-182, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31041847

RESUMO

The novel KIR2DL4*00603 allele differs from the closest allele KIR2DL4*00602 by a silent mutation.

8.
HLA ; 94(2): 182-184, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31069992

RESUMO

The novel KIR2DL4*036 allele differs from the closest allele KIR2DL4*00102 by a single missense mutation.

9.
HLA ; 94(2): 186-187, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31070014

RESUMO

The novel KIR2DL4*038 allele differs from the closest allele KIR2DL4*00102 by a single missense mutation.

10.
HLA ; 94(1): 93-94, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30945449

RESUMO

The novel KIR3DL3*062 allele differs from the closest allele KIR3DL3*02602 by a single missense mutation.

11.
HLA ; 94(1): 95-96, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30941914

RESUMO

The novel KIR3DL3*063 allele differs from the closest allele KIR3DL3*04802 by a single missense mutation.

12.
HLA ; 94(1): 92-93, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30941923

RESUMO

The novel KIR3DL3*02602 allele differs from the closest allele KIR3DL3*02601 by a single silent mutation.

13.
J Hypertens ; 37(4): 696-701, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30817449

RESUMO

OBJECTIVES: This study aimed to develop a cumulative score composed of seven risk factors: age, resting heart rate, overweight or obesity, dyslipidemia, hyperuricemia, impaired glucose regulation, and impaired estimated glomerular filtration rate (eGFR), to evaluate the risk of new-onset hypertension. METHODS: We retrospectively conducted a cohort study in 23 665 participants free from hypertension at baseline, who attended at least two annual health examinations between 2011 and 2016. We defined hypertension as SBP of 140 mmHg or less and/or DBP of at least 90 mmHg, according to the 2010 Chinese guidelines for the management of hypertension. We computed a composite, individual-level cumulative score incorporating all seven risk factors (no = 0 point; yes = 1 point; total range 0-7 points). Cox regression was used to analyze the association between cumulative score and risk of hypertension. RESULTS: A total of 2305 participants developed hypertension during a median follow-up period of 3.6 years. Compared with participants with 0 points, the adjusted hazard ratios (95% confidence intervals) for the development of hypertension for those with 2, 3, and at least 4 points were 1.61 (1.29-2.02), 2.05 (1.64-2.57) and 2.77 (2.22-3.46), respectively (P trend < 0.001). This association was present after adjustment for sex and baseline blood pressure. CONCLUSION: Age, resting heart rate, overweight or obesity, dyslipidemia, hyperuricemia, impaired glucose regulation, and impaired eGFR were associated with significant risk of new-onset hypertension and when combined there was an accumulation of risk.

14.
Front Immunol ; 10: 24, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30745901

RESUMO

Natural killer (NK) cell functions are modulated by polymorphic killer cell immunoglobulin-like receptors (KIR). Among 13 human KIR genes, which vary by presence and copy number, KIR3DL3 is ubiquitously present in every individual across diverse populations. No ligand or function is known for KIR3DL3, but limited knowledge of expression suggests involvement in reproduction, likely during placentation. With 157 human alleles, KIR3DL3 is also highly polymorphic and we show heterozygosity exceeds that of HLA-B in many populations. The external domains of catarrhine primate KIR3DL3 evolved as a conserved lineage distinct from other KIR. Accordingly, and in contrast to other KIR, we show the focus of natural selection does not correspond exclusively to known ligand binding sites. Instead, a strong signal for diversifying selection occurs in the D1 Ig domain at a site involved in receptor aggregation, which we show is polymorphic in humans worldwide, suggesting differential ability for receptor aggregation. Meanwhile in the cytoplasmic tail, the first of two inhibitory tyrosine motifs (ITIM) is conserved, whereas independent genomic events have mutated the second ITIM of KIR3DL3 alleles in all great apes. Together, these findings suggest that KIR3DL3 binds a conserved ligand, and a function requiring both receptor aggregation and inhibitory signal attenuation. In this model KIR3DL3 resembles other NK cell inhibitory receptors having only one ITIM, which interact with bivalent downstream signaling proteins through dimerization. Due to the extensive conservation across species, selection, and other unusual properties, we consider elucidating the ligand and function of KIR3DL3 to be a pressing question.


Assuntos
Heterozigoto , Primatas/genética , Primatas/metabolismo , Receptores KIR/genética , Receptores KIR/metabolismo , Transdução de Sinais , Sequência de Aminoácidos , Animais , Evolução Biológica , Hominidae , Humanos , Células Matadoras Naturais/imunologia , Células Matadoras Naturais/metabolismo , Modelos Moleculares , Filogeografia , Primatas/imunologia , Ligação Proteica , Conformação Proteica , Domínios e Motivos de Interação entre Proteínas , Receptores KIR/química , Seleção Genética , Relação Estrutura-Atividade
15.
J Neurol Neurosurg Psychiatry ; 90(6): 652-658, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30636700

RESUMO

BACKGROUND AND OBJECTIVE: Aetiology and pathogenesis of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, the most common autoimmune encephalitis, is largely unknown. Since an association of the disease with the human leucocyte antigen (HLA) has not been shown so far, we here investigated whether anti-NMDAR encephalitis is associated with the HLA locus. METHODS: HLA loci of 61 patients with anti-NMDAR encephalitis and 571 healthy controls from the Chinese Han population were genotyped and analysed for this study. RESULTS: Our results show that the DRB1*16:02 allele is associated with anti-NMDAR encephalitis (OR 3.416, 95% CI 1.817 to 6.174, p=8.9×10-5, padj=0.021), with a higher allele frequency in patients (14.75%) than in controls (4.82%). This association was found to be independent of tumour formation. Besides disease susceptibility, DRB1*16:02 is also related to the clinical outcome of patients during treatment, where patients with DRB1*16:02 showed a lower therapeutic response to the treatment than patients with other HLA alleles (p=0.033). Bioinformatic analysis using HLA peptide-binding prediction algorithms and computational docking suggested a close relationship between the NR1 subunit of NMDAR and the DRB1*16:02. CONCLUSIONS: This study for the first time demonstrates an association between specific HLA class II alleles and anti-NMDAR encephalitis, providing novel insights into the pathomechanism of the disease.

16.
J Hum Hypertens ; 33(7): 524-530, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30518806

RESUMO

Uncoupling proteins (UCPs) belong to the family of mitochondrial transporter proteins and mediate regulated proton leak across the inner mitochondrial membrane. The UCPs play an important role in energy homeostasis and reactive oxygen species (ROS) release, and have been established as candidate genes for obesity, diabetes and hypertension. This study examined the possible association between the single nucleotide polymorphisms (SNPs) of UCP1-3 genes and essential hypertension (EH) in a northeastern Han Chinese population. A total of 2207 Chinese Han subjects were enrolled, including 1045 normotensives and 1162 hypertensives. Genotyping of UCP1 rs1800592, UCP1 rs12502572, UCP2 rs659366, UCP2 rs660339, and UCP3 rs3781907 was detected using Sequenom MassArray System. SHEsis was used to analyze linkage disequilibrium and haplotype. No evident association was observed between the genotype distributions and allele frequencies of individual SNPs and EH. Haplotype analysis showed the haplotype GAATA (rs1800592-rs12502572-rs659366-rs660339-rs3781907) was significantly associated with lower EH risk (p = 0.001, χ2 = 10.861, OR = 0.634, 95% CI = 0.483-0.833), and AGATG was associated with increased EH risk (p = 0.012, χ2 = 6.287, OR = 1.265, 95% CI = 1.052-1.521). These findings suggest haplotypes of UCP1-3 genes are linked to EH risk in a northeastern Han Chinese population. Further investigation with larger sample size in multiethnic population is needed to confirm our results.

17.
J Hypertens ; 2018 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-30300252

RESUMO

OBJECTIVES: This study aimed to develop a cumulative score composed of seven risk factors: age, resting heart rate, overweight or obesity, dyslipidemia, hyperuricemia, impaired glucose regulation, and impaired estimated glomerular filtration rate (eGFR), to evaluate the risk of new-onset hypertension. METHODS: We retrospectively conducted a cohort study in 23 665 participants free from hypertension at baseline, who attended at least two annual health examinations between 2011 and 2016. We defined hypertension as SBP of 140 mmHg or less and/or DBP of at least 90 mmHg, according to the 2010 Chinese guidelines for the management of hypertension. We computed a composite, individual-level cumulative score incorporating all seven risk factors (no = 0 point; yes = 1 point; total range 0-7 points). Cox regression was used to analyze the association between cumulative score and risk of hypertension. RESULTS: A total of 2305 participants developed hypertension during a median follow-up period of 3.6 years. Compared with participants with 0 points, the adjusted hazard ratios (95% confidence intervals) for the development of hypertension for those with 2, 3, and at least 4 points were 1.61 (1.29-2.02), 2.05 (1.64-2.57) and 2.77 (2.22-3.46), respectively (P trend < 0.001). This association was present after adjustment for sex and baseline blood pressure. CONCLUSION: Age, resting heart rate, overweight or obesity, dyslipidemia, hyperuricemia, impaired glucose regulation, and impaired eGFR were associated with significant risk of new-onset hypertension and when combined there was an accumulation of risk.

18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(3): 324-328, 2018 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-29896724

RESUMO

OBJECTIVE: To list the key points for quality control during HLA-A, B, C, DRB1 and DQB1 allele typing by taking consideration of hardware, software and experimental procedures. METHODS: A total of 10 167 samples from randomly selected healthy blood donors and donor-recipient pairs from Shenzhen were typed for exons 2-4 of HLA-A, B, C, exon 2 of HLA-DRB1, and exons 2 and 3 of HLA-DQB1 by PCR- sequence-based typing. For 56 cases whose forward and reverse sequences were inconsistent, the samples were re-checked by a PCR-sequence specific oligonucleotide probe method. Novel alleles not included in the IMGT/HLA database were cloned and sequenced using in-house primers. RESULTS: Eight novel HLA alleles were identified. A table for key positions of single nucleotide polymorphisms (SNPs) were generated, which summarized the key points for quality control during HLA-A, B, C, DRB1 and DQB1 allele typing. Among the listed SNPs, 3 were located at the HLA-A locus, 8 were at the HLA-B locus, 6 were at the C locus, 6 were at the DQB1 locus, and 4 were at the DRB1 locus. To ensure the quality control, an unique sample number for DNA transferring tubes in the process of experiment should be considered. CONCLUSION: A protocol for quality control should be enforced by checking all of the key points. The SNPs and critical control points of the alleles should be examined to ensure the accuracy of HLA typing results.


Assuntos
Teste de Histocompatibilidade/métodos , Adulto , Alelos , Sequência de Bases , Primers do DNA/genética , Éxons , Feminino , Genótipo , Antígenos HLA-A/genética , Cadeias HLA-DRB1/genética , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Adulto Jovem
19.
Diabetes Ther ; 9(4): 1713-1718, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29808361

RESUMO

Lifestyle modification with healthy diet and physical exercise is considered the basic strategy of prevention and treatment of type 2 diabetes, a commonly seen comorbidity in patients with acquired brain injury. Additionally, emotional stress with anxiety and depression is suggested to play a role in type 2 diabetes. Research studies have demonstrated the efficacy of multidisciplinary lifestyle intervention in patients with inadequate glycemic control. However, whether lifestyle approaches alone may be adequate for the management of poorly controlled type 2 diabetes is unknown. We report a 30-year-old male patient whose type 2 diabetes was inadequately controlled by 50 units of insulin glargine, 15 units of insulin aspart supplement with meals plus a correctional scale as well as multiple oral hypoglycemic drugs when admitted to a neurobehavioral rehabilitation unit subsequent to his brain injury. Following 3 months of multidisciplinary rehabilitation for his functional neurological symptom disorder, all his pharmacological agents were gradually discontinued and his diabetes was successfully managed solely by lifestyle approaches.

20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(1): 112-115, 2018 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-29419875

RESUMO

OBJECTIVE To assess the association of polymorphisms of KIR2DL4 gene with leukemia among ethnic Hans from southern China. METHODS A total of 590 leukemia patients were recruited, which included 283 cases of acute lymphoblastic leukemia (ALL), 277 cases of acute myeloid leukemia (AML), and 80 cases of chronic myeloid leukemia (CML). Meanwhile, 306 healthy controls were randomly selected from volunteer blood donors. Both groups were subjected to sequence-based typing of the entire coding sequence of the KIR2DL4 gene using an in-house assay. The genotype for each sample was determined with Assign 4.7 SBT software. The frequencies of each detected KIR2DL4 allele, the 9A type KIR2DL4 allele and 10A type KIR2DL4 allele of the ALL, AML and CML groups were compared with those of the control group. RESULTS Five KIR2DL4 alleles, namely KIR2DL4*001, *005, *006, *008 and *011, were detected in the ALL, AML and CML groups as well as the control group. A significant difference was detected in the frequencies of KIR2DL4*011 and 10A type KIR2DL4 allele between the ALL group and the control group (KIR2DL4*011: OR = 1.66, P = 0.01; 10A type KIR2DL4: OR = 0.42, P = 0.03), but was lost after P correction (Pc > = 0.05). No significant difference was detected in the frequencies of KIR2DL4 alleles, the 9A type KIR2DL4 and 10A type KIR2DL4 allele between the AML and CML patient groups compared with the control group (P > 0.05, Pc > 0.05). CONCLUSION The allelic diversity of the KIR2DL4 locus showed no significant association with leukemia among ethnic Hans from southern China.


Assuntos
Predisposição Genética para Doença/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia Mieloide/genética , Polimorfismo Genético , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Receptores KIR2DL4/genética , Doença Aguda , Alelos , Grupo com Ancestrais do Continente Asiático/genética , China , Frequência do Gene , Predisposição Genética para Doença/etnologia , Genótipo , Técnicas de Genotipagem , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/etnologia , Leucemia Mieloide/etnologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/etnologia
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