scholarly journals Polymorphisms in FCGR2A (131H/R) and FCGR2B (232I/T) are associated with the development of inhibitors in Chinese hemophilia A patients

2020 ◽  
Author(s):  
Hong Qu ◽  
Yongfang Chen ◽  
Wenjing Zeng ◽  
Xiaohua Huang ◽  
Shuqin Cheng
Keyword(s):  
Direct Sequencing ◽  
Allele Frequencies ◽  
Chinese Han ◽  
Chi Square ◽  
Inhibitor Development ◽  
Fviii Inhibitor ◽  
Gamma Receptor ◽  
Sequencing Method ◽  
Genotype And Allele Frequencies

Abstract Background: Present study was to explore the association between gene polymorphisms in Fc gamma receptor IIa (FCGR2A) and Iib (FCGR2B) and factor VIII (FVIII) inhibitor development in patients with hemophili A (HA) in a Chinese Han population.Methods: FCGR2A (131H/R) and FCGR2B (232I/T) polymorphsims were genotyped using PCR and direct sequencing method in 108 HA patients, including 23 cases with inhibitors and 85 without inhibitors. Chi-square (c2) test was applied to compare the genotype and allele frequencies between two groups. Odds ratio (OR) and 95% confidence interval (95%CI) were calculated to indicate the relative susceptibility of HA.Results: FCGR2A 131RH genotype frequency had a significantly increased trend in inhibitor group compared with the non-inhibitor group, suggesting a momentous role of 131H/R polymorphism for inhibitor development in HA patients. Individuals carrying 131RH genotype showed higher risk to be attacked by the inhibitor development in HA patients (OR=4.929; 95%CI=1.029-23.605). However, there were no significant differences of FCGR2B (232I/T) polymorphism genotype and allele frequencies between inhibitor and non-inhibitor groups.Conclusion: FCGR2A (131H/R) was in relation to the susceptibility of FVIII inhibitors development in HA patients.

Genetic polymorphisms of EGF 5'-UTR in patients with glioma: A possible predictive marker of outcome.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e13009-e13009
Author(s):  
Emanuela Vattemi ◽  
Giovanna Cipollini ◽  
Cristina Dealis ◽  
Lorena Rossi ◽  
Susanne Baier ◽  
...  
Keyword(s):  
Cancer Progression ◽  
Direct Sequencing ◽  
Predictive Marker ◽  
Reference Sequence ◽  
Published Data ◽  
Sequencing Method ◽  
Number Of Patients ◽  
Predictive Role ◽  
Epidermal Growth

e13009 Background: Epidermal growth factor (EGF) plays an important role in carcinogenesis. An adenine (A) to guanine (G) single nucleotide polymorphism at position 61 in the 5'-untranslated region (5'-UTR) of the EGF gene has been found to be associated with levels of EGF production and contribute to the risk of glioma. However, published data are contradictory. EGF +61G/A polymorphism may contribute to the risk of glioma in different ethnic group. Patients with glioma and GG genotype have been reported to have a risk of poorer otucome than patients with AA genotype. Purpose of this study is to investigate the potential role of this polymorphism in cancer progression and its role as predictive marker of outcome in glioma caucasian patients. Methods: EGF 61A/G polymorphism (rs4444903) was analyzed in glioma patients and was determined by means of Polymerase Chain Reaction and Direct Sequencing method (GenBank reference sequence-accession no. AC005509) from blood samples. Association of this genetic polymorphism with clinical and pathological data of patients was evaluated. Results: We investigated EGF +61G/A polymorphism in 24 glioma patients . EGF +61G allele has been found in 67% of glioma patients (25% G/G genotype and 42% A/G genotype). In astrocytomas, EGF +61G allele represents a 83% frequency; in glioblastomas and in oligodendrogliomas, EGF +61G allele frequency represents respectively 71% and 50%. In WHO IV gliomas, the EGF +61G allele represents a 63% frequency, (27% G/G and 36% A/G ), in WHO III gliomas a 77% frequency (33% G/G and 44% A/G ) and in WHO II gliomas a 50% frequency (100% A/G ). Median PFS of glioblastoma patients was 9 months. 83% of glioblastoma patients with a relapsing disease showed the G/G and A/G genotype. No difference was detected in the others histotypes. Conclusions: Our data conferm previous studies which reported G allele as a risk factor for glioma in Caucasian. G/A and G/G genotypes seem to be more rappresentative in high grade gliomas . Despite limited number of patients, our study supports the predictive role of EGF 61 A/G polymorphism in GBM. Additional large studies are warranted to confirm the role of EGF polymorphism as indipendent prognostic factor in glioma.

Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis

2011 ◽  
Vol 39 (1) ◽  
pp. 106-111 ◽  
Author(s):  
YAVUZ PEHLIVAN ◽  
BULENT GOGEBAKAN ◽  
SERDAR OZTUZCU ◽  
METIN OZGEN ◽  
GÖZDE YILDIRIM CETIN ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Gene Polymorphisms ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Lung Involvement ◽  
Urotensin Ii ◽  
Finger Flexion ◽  
Fibrotic Disorder ◽  
Genotype And Allele Frequencies

Objective.Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.Methods.A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls.Results.We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase 1 antibody groups.Conclusion.Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc.

Role of polymorphic fc gamma receptor II/III  in the efficacy of cetuximab in KRAS-NRAS-BRAF-PI3K mutated.

2012 ◽  
Vol 30 (4_suppl) ◽  
pp. 477-477
Author(s):  
Jesus Garcia-Foncillas ◽  
Javier Rodriguez ◽  
Valentina Boni ◽  
Iosu Sola ◽  
Beatriz Honorato ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Wild Type ◽  
Immune Effector ◽  
Effector Cells ◽  
Gamma Receptor ◽  
Tumor Tissues ◽  
Dependent Cell ◽  
Exon 20 ◽  
Codon 12 And 13

477 Background: The immunoglobulin G1 (IgG1) monoclonal antibody (MoAb) cetuximab is active in metastatic colorectal cancer (mCRC) as first or subsequent lines of therapy. Efficacy seems restricted to KRAS wild-type tumors. IgG1 may also induce antibody dependent cell mediated citotoxicity (ADCC) by recruitment of immune effector cells. ADCC is influenced by FcγR polymorphisms. We investigated the association of FcγR polymorphisms and disease control rate (DCR) in mCRC patients treated with chemotherapy plus cetuximab. Methods: Tumor tissues from 106 patients were screened for KRAS codon 12 and 13 mutations using a sensitive multiplex assay (DxS, Manchester. UK). NRAS (codons: 12, 13 and 61), PI3K (exon 20) and BRAF (exon 15) were analysed by direct sequencing. Fcγ RIIa and Fcγ RIIIa polymorphisms were genotyped by TaqMan assays. Results: DCR was significantly higher in KRAS wild-type tumors (61% vs 39%, p=0.049). In EGFR downstream-mutated mCRC patients, those harbouring a FcγRIIa H/H genotype had a higher DCR than alternative genotypes (67% vs 33%, p=0.017). By multivariate analysis, FcγRIIa-131H/H remained significantly correlated with DCR (p=0.008). Conclusions: FcγR polymorphisms may play a role in the clinical efficacy of cetuximab in EGFR downstream mutated mCRC patients. Further research into cetuximab immune-based mechanisms in KRAS-mutated patients seems warranted.

scholarly journals Variants in the 3′ End of SLC6A3 in Northwest Han Population with Parkinson’s

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Peiye Chang ◽  
Yongwang Fu ◽  
Ping Zhao ◽  
Chunmei Wang ◽  
Mingfang Jiang ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Allele Frequencies ◽  
Control Group ◽  
Control Groups ◽  
Han Population ◽  
Significant Difference ◽  
And Control ◽  
Normal Controls ◽  
Genotype And Allele Frequencies

Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in neurology. It is possible that multifactorial and genetic factors are related to its pathogenesis. Recently, there have been reports of SLC6A3 genetic variants leading to PD. However, the role of 3′ end of SLC6A3 in PD is less studied in different ethnic groups. To explore the roles of 3′ end of SLC6A3 in PD development, 17 SNP sites in 3′ end of SLC6A3 were analyzed in 360 PD patients and 392 normal controls of Han population residing in northwest of China. The significant difference of gene type and allele frequencies between the PD and control groups was detected only in rs40184 (P = 0.013 and 0.004, respectively; odds ratio 2.529, 95% confidence interval 1.325–4.827). The genotype and allele frequencies of the other 16 SNP sites were not found to be different between the PD group and the control group. rs2550936, rs3776510, and rs429699 were selected to construct the haplotypes; no significant difference was found in a frequency of 5 haplotypes between the PD group and the control group. These results suggest that the SLC6A3 variant in rs40184 A allele may increase the risk of PD in northwest Han population and may be a biomarker of PD.

scholarly journals Role of Toll-Like Receptor 3 Gene Polymorphisms in Preeclampsia

2015 ◽  
Vol 37 (5) ◽  
pp. 1927-1933 ◽  
Author(s):  
Aiping Chen ◽  
Congying Li ◽  
Jingli Wang ◽  
Han Sha ◽  
Shunfu Piao ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Critical Role ◽  
Allele Frequencies ◽  
Chinese Han Population ◽  
Toll Like Receptor ◽  
Chinese Han ◽  
Chi Square ◽  
Allelic Discrimination ◽  
Han Population ◽  
Significant Difference

Background/Aims: Accumulating evidence suggests that an excessive maternal systemic inflammatory response to pregnancy with exaggerated activation of the innate immune system plays a critical role in the development of preeclampsia (PE). In this study, we investigated whether polymorphisms in the Toll-like receptor 3 (TLR3) gene are associated with susceptibility to PE in the Chinese Han population. Methods: We recruited 987 PE patients and 1227 healthy pregnant women. Two polymorphisms (rs3775291 and rs3775296) located in TLR3 were genotyped by TaqMan allelic discrimination real-time PCR. The association between the genotype or allele frequencies and PE was examined using chi-square tests. Clinical data were compared between cases and controls using Student's t test. Results: No significant difference was determined in the genetic distribution of rs3775291 and rs3775296 between cases and controls. There were also no significant differences in the genotype and allele frequencies of either SNP between healthy pregnant women and patients with late or early onset PE, or with mild or severe PE. Conclusion: Although this is the first study of the association between TLR3 polymorphisms and preeclampsia, we found that TLR3 polymorphisms are unlikely to play a significant role in the development of preeclampsia in the Chinese Han population.

scholarly journals The genetic association between TLR-1, -2, -4, and -6 gene polymorphisms and rheumatoid arthritis (RA) susceptibility in a Chinese Han population

2020 ◽  
Author(s):  
Yuqin Peng ◽  
Bingqian Chen ◽  
Xiaowen Sheng ◽  
Yufeng Qian
Keyword(s):  
Gene Polymorphisms ◽  
Direct Sequencing ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Toll Like Receptor ◽  
Genetic Associations ◽  
Chinese Han ◽  
Han Population ◽  
Sequencing Method ◽  
Direct Sequencing Method

Abstract Background: The toll-like receptor (TLR) genes were shown to be involved in the pathogenesis of RA. We aimed to investigate the genetic associations between the TLR-1, -2, -4, and -6 genes polymorphisms and RA susceptibility in a Chinese Han population. Methods : Six polymorphisms (TLR-1 (rs5743610, rs5743618), -2 (rs5743708), -4 (rs4986790, rs4986791), and -6 (rs5743810)) in TLRs genes were genotyped in 360 patients with RA and 560 matched healthy controls by using direct sequencing method. The ORs and 95% CIs were evaluated using a standard logistic regression analysis. Results : No significant association between the allelic, dominant and recessive models of TLR-1 rs5743618, TLR-2 rs5743708, TLR-4 rs4986790 and rs4986791, and TLR-6 rs5743810 polymorphisms and RA risk was observed (p>0.05). However, significant associations were detected between the allelic, dominant and recessive models of TLR-1 rs5743618 and RA risk (allelic: OR[95%CI]= 2.21 [1.73, 2.81], p<0.0001; dominant: OR[95%CI]= 2.33 [1.75, 3.09], p<0.0001; recessive models: OR[95%CI]= 3.70 [1.85, 7.41], p=0.0002), In addition, the TLR6 rs5743810 was found to be associated with the RF - and anti-CCP - antibody in RA group (RF: OR[95%CI]= 2.29 [1.42, 3.69], p=0.0007; anti-CCP: OR[95%CI]= 2.33 [1.39, 3.89], p=0.001). Conclusions : The allelic, dominant, and recessive models of TLR1 rs5743618 might be associated with RA susceptibility. And the TLR6 rs5743810 might be associated with RF and anti-CCP antibody in RA in Chinese Han population.

scholarly journals Functional Variants of Fc Gamma Receptor (FCGR2A) and FCGR3A Are Not Associated with Susceptibility to Systemic Sclerosis in a Large European Study (EUSTAR)

2010 ◽  
Vol 37 (8) ◽  
pp. 1673-1679 ◽  
Author(s):  
BEHROOZ Z. ALIZADEH ◽  
JASPER BROEN ◽  
BLANCA RUEDA ◽  
ROGER HESSELSTRAND ◽  
DIRK WUTTGE ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Clinical Phenotype ◽  
Pulmonary Involvement ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Functional Polymorphisms ◽  
Gamma Receptor ◽  
Functional Variants ◽  
Genotype And Allele Frequencies

Objective.To investigate the possible role ofFCGR2A519A>G andFCGR3A559A>C functional polymorphisms in the genetic predisposition to susceptibility to systemic sclerosis (SSc) or clinical phenotype.Methods.A total of 1566 patients with SSc and 2271 geographically matched controls were included in our study. We analyzed the genotype and allele frequencies of theFCGR2A519A>G andFCGR3A559A>C functional variants in 6 independent European cohorts of white patients with SSc, and white controls. The cohorts comprised 165 Dutch patients with SSc and 1326 controls, 236 Spanish patients with SSc and 257 controls, 267 German patients with SSc and 270 controls, 202 Swedish patients with SSc and 261 controls, 416 Italian patients with SSc and 157 controls, and additionally 280 English patients with SSc. Genotyping was performed using Taqman 5′ allelic discrimination assay. The study reached a 99% power to detect the effect of a polymorphism at an OR of 1.3.Results.NeitherFCGR2A519A>G norFCGR3A559A>C was significantly associated with susceptibility to SSc. We did not find an association with specific disease phenotypes, limited or diffuse cutaneous involvement, autoantibody profiles, or pulmonary involvement.Conclusion.Our study strongly suggests the lack of a role for theFCGR2A519A>G andFCGR3A559A>C polymorphisms in SSc susceptibility or clinical phenotype in 6 independent European cohorts.

HUBUNGAN PERAN FAMILY CAREGIVER TERHADAP QUALITAS HIDUP LANSIA

2019 ◽  
Vol 11 (1) ◽  
pp. 51-56
Author(s):  
RIANI PRADARA JATI ◽  
Sekar Farah Nabila
Keyword(s):  
Quality Of Life ◽  
Family Caregiver ◽  
Random Sampling ◽  
Simple Random Sampling ◽  
The Elderly ◽  
Chi Square ◽  
The Poor ◽  
The Family

  Penempatan peran yang baik bagi Family Caregiver sangatlah membantu lansia dalam meningkatkah qualitas hidupnya, meningkatkan motivasi dalam menjalankan hidup Penelitian ini bertujuan Mengetahui hubungan peran Family Caregiver dalam pemenuhan qualitas hidup bagi lansia di Kelurahan Langenharjo Kabupaten Kendal. DesainPenelitianDeskriptifKorelasional menggunakan pendekatan Krosectional,tehnikSamplingStratified Simple Random Sampling dengan karakteristik heterogen, dari populasi mempunyai hak yang sama untuk diseleksi sebagai sampel teknik undianPengambilan data dengan menggunakan kuesioner yang telah diuji validitas dan reliabilitasnya. Uji statistik Chi-square, dengan taraf signifikasi 5%jumlah sampel pada penelitian ini 70 sampel pada Family Caregiver dari 213 populasi yang ada. Hasil penelitian dari 70 responden didapatkan Peran Family Caregiver tidak baik dengan qualitas hidup tidak baik 33 (47,1%), sedangkan Peran Family Caregiver kurang baik dengan qualitas hidup lansia baik 3 (4,3%). Untuk distribusi Peran Family Caregiver kurang baik dengan qualitas hidup lansia tidak baik sebanyak 6 responden (8,6%) sedangkan untuk distribusi Peran Family Caregiver kurang baik dengan qualitas hidup lansia baik sebanyak 23 responden (32,9%). Terakhir, untuk distribusi Peran Family Caregiver baik dengan qualitas hidup lansia tidak baik didapatkan hasil 2 responden (2, 9%) sedangkan untuk distribusi Peran Family Caregiver baik dengan qualitas hidup lansia baik didapatkan hasil 3 responden (4,3%)Menunjukkan nilai ρ value 0,001 (ρ < 0,05) berarti ada hubungan antara dukungan keluarga dengan kepatuhan lansia dalam keikutsertaan posyandu lansia. Disarankan kepada semua Family Cregiver lansia untuk mampu memahami pentingnya perhatian, dukungan bagi lansia dalammeningkatkan qualitas hidup yang lebih baik bagi lansia.   Kata kunci : Peran family caregiver, qualitas hidup, lansia.   ABSTRACT Placement of a good role for Family Caregiver is very helpful for the elderly to improve their quality of life, increase motivation in living life Research Objective: To know the relationship between the role of Family Caregiver in fulfilling quality of life for the elderly in Langenharjo Village, Kendal Regency. Descriptive Correlational Research Design uses a cross sectional approach, Sampling Stratified Simple Random Sampling technique with heterogeneous characteristics, from the population has the same right to be selected as a sample lottery technique Retrieving data using a questionnaire that has been tested for validity and reliability. Test Chi-square statistics, with a significance level of 5% the number of samples in this study 70 samples on the Family Caregiver from 213 populations. Results of the Study Of 70 respondents found the role of Family Caregiver was not good with poor quality of life 33 (47.1%) , while the role of the Family Caregiver is not good with the quality of life of a good elderly 3 (4.3%). For the distribution of the role of Family Caregiver is not good with the quality of life of the poor family as many as 6 respondents (8.6%) while for the distribution of the Role of Family Caregiver is not good with the quality of life of good elderly as many as 23 respondents (32.9%). Finally, the distribution of the Role of Family Caregiver with good quality of life for the poor is obtained by 2 respondents (2, 9%), while the distribution of the Role of Family Caregiver with good quality of life for the elderly is obtained by 3 respondents (4.3%). 0.001 (ρ <0.05) means that there is a relationship between family support and the compliance of the elderly in the participation of the elderly posyandu. It is recommended to all elderly Cregiver families to be able to understand the importance of attention, support for the elderly in improving the quality of life better for the elderly   Keywords: Role of Family Caregiver, Quality of Life, Elderly

HUBUNGAN PERAN KADER POSYANDU DENGAN STATUS GIZI BALITA

2018 ◽  
Vol 9 (02) ◽  
pp. 192
Author(s):  
Wiwid Wahyuningsih ◽  
Atik Setiyaningsih
Keyword(s):  
Nutritional Status ◽  
Total Sample ◽  
Nutrition Status ◽  
P Value ◽  
Chi Square ◽  
Cross Sectional ◽  
Central Java ◽  
Good Nutrition ◽  
Nutritional Status Of Children

ABSTRAKLatar Belakang : Keberadaan kader di posyandu sebagai salah satu sistem penyelenggarakan pelayanan sangat dibutuhkan. Mereka adalah ujung tombak  pelayanan kesehatan yang merupakan kepanjangtanganan puskesmas Jawa Tengah tahun 2011 jumlah gizi kurang 5,35% dan gizi buruk 0,10%. Untuk Kabupaten Semarang dari 23.562 balita yang ditimbang pada tahun 2011 gizi lebih 1,13%, gizi baik 93,51%, gizi kurang 4,86% dan gizi buruk 0,49% (DepKes Prov Jateng, 2011). Tujuan Penelitian : Penelitian ini bertujuan untuk mengetahui hubungan peran kader posyandu dengan status gizi balita. Metode Penelitian : Desain penelitian ini adalah survey analitik dengan menggunakan pendekatan cross sectional. Populasi dalam penelitian ini adalah seluruh balita di Posyandu Mawar di Desa Gedangan sejumlah 40 responden, dengan teknik total sampling dan analisa data chi square. Hasil Penelitian : Hasil perhitungan chi square di peroleh X² hitung 10.644 pada df=4, P.value 0.031 dimana probabilitas lebih kecil dari level of significant 5 % (0,001 < 0,05) berarti Ha diterima dan Ho ditolak. Kesimpulan : ada hubungan antara peran kader posyandu dengan status gizi pada balita.Kata Kunci : peran kader , status gizi balitaCADERE ROLE RELATIONSHIP WITH NUTRITIONAL STATUS OF CHILDREN POSYANDUABSTRACTBackground : posyandu cadre in Existence as one of the 56th's service system is urgently needed. They are the tip of the Spear is a kepanjangtanganan health services clinics in Central Java in 2011 the amount of nutrition less 5.35% 0.10% and malnutrition. To Semarang from 23.562 toddler who weighed in 2011 more nutritional 1.13%, 93,51%, good nutrition nutrition less 4.86% and 0.49% poor nutrition (Department of Health Central Java Prov., 2011). Objective : the research aims to find out the relationship role of posyandu cadre with the nutritional status of children. Methods : the design of this research is a survey using the analytic approach of cross sectional. The population in this study are all the toddlers at the Rose in the village of Posyandu Gedangan some 38 respondents, with total sample techniques and data analysis a chi square. The results :. The chi square calculation results in getting X ² count 10.644 on df = 4, P. value 0.031 where probability is smaller than the level of significant 5% (0.001 < 0.05) mean Ha Ho accepted and rejected. Conclusion : there is a connection between the role of cadres of posyandu with nutritional status on toddlers.Keywords : the role of cadres, toddler nutrition status

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