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1.
Front Endocrinol (Lausanne) ; 14: 1168806, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37361535

RESUMO

Purpose: This study aimed to investigate the increase in bone marrow adipose tissue (BMAT) in overweight and obese women with polycystic ovary syndrome (PCOS) and its relationship with hyperandrogenism, obesity, and metabolic disorders. Methods: The study included 87 overweight or obese women with PCOS (mean age 29 ± 4 years), as well as 87 age-matched controls recruited from a separate population study. All PCOS patients were measured for anthropometric features, abdominal adipose tissue areas, BMAT, biochemistry, and sex hormones. BMAT was compared between the PCOS patients and controls. In PCOS patients, subgroup comparisons of BMAT and its associations with body adiposity indices, biochemistry, and sex hormones were analyzed. The odds ratios (ORs) of elevated BMAT (defined as BMAT ≥ 38%) were calculated. Results: On average BMAT was increased by 5.6% ( ± 11.3%) in PCOS patients compared to controls. BMAT were significantly higher in the upper tertiles of total cholesterol (TC) and low density lipoprotein-cholesterol (LDL-C). BMAT was not correlated with abdominal adiposity indices or biochemistry except for LDL-C (r = 0.253-0.263, p = 0.014-0.018). LDL-C was not significantly different between the normal and abnormal androgen PCOS subgroups (p = 0.10-0.887). LDL-C, follicle stimulating hormone (FSH), and total testosterone (TT) were risk factors for elevated BMAT, with ORs of 1.899 (p = 0.038-0.040), 1.369 (p = 0.030-0.042), and 1.002 (p = 0.040-0.044) for each unit increase, respectively. Conclusion: BMAT was increased in overweight and obese PCOS patients, but the increase in BMAT was not associated with the hyperandrogenism related obesity or metabolic disorders.


Assuntos
Hiperandrogenismo , Doenças Metabólicas , Síndrome do Ovário Policístico , Humanos , Feminino , Adulto , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/metabolismo , Hiperandrogenismo/complicações , Sobrepeso/complicações , Medula Óssea/metabolismo , Obesidade/complicações , Obesidade/metabolismo , Tecido Adiposo/metabolismo , LDL-Colesterol , Doenças Metabólicas/complicações
2.
Front Immunol ; 13: 807915, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36059490

RESUMO

"On-target off-tumor" toxicity is a major challenge to the use of chimeric antigen receptor (CAR)-engineered T cells in the treatment of solid malignancies, because of the expression of target antigens in normal tissues. Mesothelin overexpression is associated with poor prognosis of multiple solid tumors, and would therefore appear to be a suitable antigen target. To understand the risk of toxicity to different organs on anti-mesothelin CAR T cell therapy, single-cell RNA sequencing (scRNA-seq) datasets derived from major human physiological systems were analyzed in this study, including the respiratory, cardiovascular, digestive, and urinary systems. According to scRNA-seq datasets, the organs were stratified into high or low risk based on the level of mesothelin expression. We report that the proportion of mesothelin-positive cells was 7.71%, 2.40% and 2.20% of myocardial cells, pulmonary cells and stomach cells, respectively, indicating that these organs could be at high risk of "on-target off-tumor" toxicity on anti-mesothelin CAR T cell therapy. By contrast, esophagus, ileum, liver, kidney and bladder exhibited low mesothelin expression (<1%). Therefore, these organs could be regarded as at low risk. Thus, the risk of toxicity to different organs and tissues in anti-mesothelin CAR T cell therapy may be predicted by these scRNA-seq data.


Assuntos
Imunoterapia Adotiva , Neoplasias , Proteínas Ligadas por GPI/metabolismo , Humanos , Imunoterapia Adotiva/efeitos adversos , Mesotelina , Neoplasias/genética , Neoplasias/terapia , RNA-Seq , Receptores de Antígenos de Linfócitos T
3.
J Ultrasound Med ; 41(12): 3091-3101, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36082840

RESUMO

OBJECTIVES: The objectives were to identify the key features of malignant and benign peripheral nerve sheath tumors (PNSTs) and determine a strategy for differentiating them using sonography. METHODS: Forty-six malignant peripheral nerve sheath tumors (MPNSTs) and 83 benign peripheral nerve sheath tumors (BPNSTs) confirmed by pathology from April 2010 to July 2021 were included. The general data and grayscale and color Doppler ultrasonic manifestations were compared between the two groups. We used single factor, multifactor, and area under the receiver operating characteristic (ROC) curve analyses to extract significant malignant risk factors and then established a scoring system with these factors. RESULTS: The significant variables identified in univariate analysis (P < .05) were maximum diameter, location, shape, boundary, encapsulation, echogenicity, texture pattern, calcification, entering or exiting nerve, and vascularity. Shape, boundary and vascularity were significant risk factors, and a scoring system was established. The area under the ROC curve (0.925) confirmed the usefulness of the scoring system for differentiating MPNSTs and BPNSTs. CONCLUSIONS: Ultrasonography is an effective method for differentiating MPNSTs from BPNSTs.


Assuntos
Neoplasias de Bainha Neural , Humanos , Diagnóstico Diferencial , Neoplasias de Bainha Neural/diagnóstico por imagem , Neoplasias de Bainha Neural/patologia , Ultrassonografia , Curva ROC
4.
Ann Transl Med ; 10(11): 634, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35813326

RESUMO

Background: Postoperative C5 palsy is a common complication of laminoplasty for cervical ossification of the posterior longitudinal ligament (C-OPLL), although there are several hypotheses regarding its etiology, the exact pathomechanism for this undesirable event remain unclear. The aim of this study was to review clinical and imaging findings in patients with C5 palsy and to propose potential risk factors for this complication. Methods: A total of 220 consecutive patients who had undergone posterior spinal process-splitting laminoplasty (pSPSL) for C-OPLL between January 2018 and December 2019 were included in this study. Postoperative C5 palsy was defined as deltoid muscle weakness of a grade ≤3 in manual muscle test (MMT). These patients were divided into two groups based on the postoperative development of C5 palsy: patients with C5 palsy (group A) and those without C5 palsy (group B). The clinical and imaging covariates evaluated were age, sex, OPLL type, K-line, foraminal stenosis, gutter malposition, and preoperative spinal cord signal change. Logistic regression was used to analyze the independent risk factors for C5 palsy. Results: In total, 211 patients (18 in group A and 193 in group B) were enrolled in this study, and the incidence of C5 palsy was 8.53%. Sixteen patients had a MMT of grade 3 and two had an MMT of grade ≤2. During the follow-up period (mean duration: 25.10±6.67 months), the MMT grade rose to 5 in 16 patients, 4 in one patient, and 3 in one patient. Multivariate analysis revealed that malposition of the bony gutter [odds ratio (OR) 11.073, 95% confidence interval (CI): 3.411, 35.948; P<0.001] and C4/5 intervertebral foramen stenosis (OR 8.455, 95% CI: 2.559, 27.936; P<0.001) were independent risk factors for C5 palsy. Conclusions: The incidence of C5 palsy was 8.53% among patients undergoing pSPSL for C-OPLL. Gutter malposition and C4/5 intervertebral foramen stenosis were identified as risk factors for this complication.

5.
Med Sci Monit ; 27: e932036, 2021 Dec 25.
Artigo em Inglês | MEDLINE | ID: mdl-34952895

RESUMO

BACKGROUND Myocardial injury after noncardiac surgery (MINS) is common and associated with postoperative mortality. We assessed MINS occurrence and association with 30-day and long-term mortality in older adult patients undergoing orthopedic surgery in China. MATERIAL AND METHODS This was a retrospective study of consecutive patients who underwent orthopedic surgery between January 1, 2009, and December 31, 2017, at Beijing Jishuitan Hospital. MINS was defined as postoperative troponin I peak elevation above the 99th percentile upper reference limit (>0.034 µg/L) within 30 days after surgery. Outcomes were 30-day postoperative mortality and long-term all-cause mortality. RESULTS From 34 901 patients, 5897 (16.9%) had serial troponin I measurements, and 266 (4.5%) had MINS after surgery. Mean patient age was 71.1±9.2 years; 32.9% were male. Among patients with MINS, 180 had myocardial infarction (MI) (3.2%). Patients with MI had higher 30-day and long-term mortality than those without MI (8.9% vs 1.2%; P<0.016 and 18.9% vs 3.5%; P=0.001). Male sex (OR 5.87, 95% CI 1.75-19.67; P=0.004), RCRI ≥2 (OR 5.05, 95% CI 1.67-15.31; P=0.004), and MI (OR 9.13, 95% CI 1.13-73.63; P=0.011) were independently associated with 30-day mortality. Age (HR 1.07, 95% CI 1.03-1.11; P=0.001), male sex (HR 2.96, 95% CI 1.51-5.80; P=0.002), RCRI ≥2 (HR 2.01, 95% CI 1.03-3.94; P=0.041), orthopedic trauma (HR 3.40, 95% CI 1.00-11.44; P=0.049), and MI (HR 7.33, 95% CI 2.22-24.20; P=0.001) were predictors of 2-year mortality. CONCLUSIONS Perioperative MI was independently associated with 30-day and long-term mortality after orthopedic surgery, providing a potential indicator of high risk of mortality in patients who could benefit from targeted prevention and intervention.


Assuntos
Mortalidade , Infarto do Miocárdio/epidemiologia , Procedimentos Ortopédicos , Complicações Pós-Operatórias/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Causas de Morte , China/epidemiologia , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/metabolismo , Infarto do Miocárdio/fisiopatologia , Isquemia Miocárdica/epidemiologia , Isquemia Miocárdica/metabolismo , Isquemia Miocárdica/fisiopatologia , Complicações Pós-Operatórias/metabolismo , Complicações Pós-Operatórias/fisiopatologia , Estudos Retrospectivos , Troponina I/metabolismo
6.
J Int Med Res ; 49(3): 300060521992995, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33706564

RESUMO

OBJECTIVE: To investigate the clinical characteristics and long-term mortality of patients with ST-elevation myocardial infarction (STEMI) and non-ST-elevation myocardial infarction (NSTEMI) after orthopaedic surgery. METHODS: This retrospective, single-centre study enrolled patients that underwent inpatient orthopaedic surgery from 2009 to 2017 in Beijing Jishuitan Hospital. The patients were screened for a cardiac troponin I elevation and fulfilled the Fourth Universal Definition of Myocardial Infarction within 30 days of surgery. RESULTS: A total of 180 patients that developed perioperative myocardial infarction (MI) were included in the study. Among them, 14 patients (7.8%) were classified as STEMI, and 166 (92.2%) had NSTEMI. Compared with those with NSTEMI, STEMI patients had significantly higher 30-day and long-term mortality rates (50.0% versus 5.4%; 71.4% versus 22.3%; respectively). Multivariate Cox regression model analysis among the entire cohort demonstrated that STEMI (hazard ratio [HR] 5.78, 95% confidence interval [CI] 2.50, 13.38) and prior MI (HR 2.35, 95% CI 1.02, 5.38) were the most significant independent predictors of long-term mortality. CONCLUSION: Perioperative MI after orthopaedic surgery was associated with a high mortality rate. STEMI was independently associated with a significant increase in short- and long-term mortality.


Assuntos
Infarto do Miocárdio sem Supradesnível do Segmento ST , Procedimentos Ortopédicos , Infarto do Miocárdio com Supradesnível do Segmento ST , Mortalidade Hospitalar , Humanos , Infarto do Miocárdio sem Supradesnível do Segmento ST/diagnóstico , Infarto do Miocárdio sem Supradesnível do Segmento ST/cirurgia , Procedimentos Ortopédicos/efeitos adversos , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Infarto do Miocárdio com Supradesnível do Segmento ST/cirurgia , Fatores de Tempo
7.
Front Endocrinol (Lausanne) ; 12: 794066, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35046898

RESUMO

Background and Purpose: Type 2 diabetes mellitus patients have an increased fracture risk despite having higher areal bone mineral density (aBMD) measured by DXA. This apparent paradox might be explained by the overestimation of BMD by DXA due to the higher fat mass in type 2 diabetes mellitus patients. Volumetric BMD (vBMD) as assessed by quantitative CT (QCT) is not influenced by fat mass. We assessed the association of vBMD and fasting plasma glucose in a large cohort of Chinese subjects and compared the vBMD in healthy and diabetic subjects. In addition, we compared the relation between aBMD, vBMD, glucose and fat mass in a subset of this cohort. Materials and Methods: 10309 participants from the China Biobank project underwent QCT based on chest low dose CT to compute vBMD of L1 and L2 vertebrae and FPG measurements between 2018 and 2019. Among them, 1037 subjects also had spine DXA scans. Data was analyzed using linear regression models. Results: In the total cohort (5889 men and 4420 women, mean age 53 years, range 30-96), there was no significant association between vBMD and FPG after adjustment for age (women: p=0.774; men: p=0.149). 291 women and 606 men fitted the diagnostic criteria of diabetes. Both women and men with diabetes had lower vBMD compared to non-diabetic subjects, but this became non-significant after adjusting for age in the total cohort (women: p=0.817; men: p=0.288) and after propensity score matching based on age (women: p=0.678; men: p=0.135). In the DXA subcohort, aBMD was significantly higher in men with diabetes after adjusting for age and this difference disappeared after further adjusting for total fat area (p=0.064). Conclusion: We did not find any effect of fasting plasma glucose or diabetes on the volumetric BMD measured with QCT after adjustment for age. Therefore, vBMD measured with QCT might be a more reliable measurement to diagnose osteoporosis and assess fracture risk than aBMD measured with DXA in diabetic patients.


Assuntos
Densidade Óssea , Complicações do Diabetes/epidemiologia , Hiperglicemia/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Glicemia/análise , China , Estudos de Coortes , Complicações do Diabetes/sangue , Complicações do Diabetes/fisiopatologia , Humanos , Hiperglicemia/sangue , Hiperglicemia/fisiopatologia , Masculino , Pessoa de Meia-Idade
8.
Metabolism ; 115: 154456, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33259834

RESUMO

BACKGROUND: Although abdominal adiposity is associated with an altered cardiometabolic risk profile, the specific contribution of abdominal adipose tissue distribution remains not fully understood. Computed tomography (CT) is a well-established and precise method to measure abdominal adipose tissue distribution. The present study investigated abdominal adiposity assessed by CT in a large-scale Chinese population. METHOD: A total of 59,429 adults who underwent a low dose chest CT for lung cancer screening at one of 13 health checkup centers throughout China were evaluated. Abdominal visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) areas were measured at the center of the 2nd lumbar vertebra with Mindways quantitative CT software using the existing CT dataset without any additional radiation exposure. The ratio of visceral to total adipose tissue (TAT) areas (VAT/TAT ratio) was calculated and expressed as a percentage. Anthropometric indices including body mass index (BMI) and waist circumference were also obtained. RESULTS: BMI, waist circumference, VAT area, SAT area, and the VAT/TAT ratio were 25.0 ±â€¯3.0 kg/m2, 90 ±â€¯8 cm, 194 ±â€¯77 cm2, 85 ±â€¯41 cm2, and 69.5 ±â€¯9.1%, respectively, in men and 23.3 ±â€¯3.1 kg/m2, 79 ±â€¯8 cm, 120 ±â€¯57 cm2, 123 ±â€¯53 cm2, and 48.9 ±â€¯9.7% in women. With increasing age, VAT area and the VAT/TAT ratio increased in both sexes whereas SAT area decreased in men (P < 0.001 for all). After adjustment for BMI and waist circumference, older individuals showed higher VAT area and higher VAT/TAT ratio than younger subjects (P < 0.001 for all). Adjusted VAT areas in participants aged 75 or older was 45 cm2 (95% confidence interval [CI]: 41 cm2, 50 cm2) higher in men and 43 cm2 (95% CI: 37 cm2, 49 cm2) higher in women compared with participants aged 31-44 years. Additionally, differences in VAT area across age groups increased as BMI or waist circumference increased. VAT and SAT areas, but not the VAT/TAT ratio, were positively associated with BMI and waist circumference in every age group. CONCLUSION: In a nationwide study conducted in China, distributions of CT-derived measures of visceral and subcutaneous adiposity were found to vary significantly between sex and age groups. Our study also revealed that the proportion of VAT (an important driver of cardiometabolic risk) could not be predicted from BMI in a Chinese population.


Assuntos
Gordura Abdominal/diagnóstico por imagem , Adiposidade/fisiologia , Obesidade Abdominal/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Medição de Risco , Tomografia Computadorizada por Raios X , Circunferência da Cintura/fisiologia
9.
J Bone Miner Res ; 36(3): 427-435, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33145809

RESUMO

Opportunistic screening for osteoporosis can be performed using low-dose computed tomography (LDCT) imaging obtained for other clinical indications. In this study we explored the CT-derived bone mineral density (BMD) and prevalence of osteoporosis from thoracic LDCT in a large population cohort of Chinese men and women. A total of 69,095 adults (40,733 men and 28,362 women) received a thoracic LDCT scan for the purpose of lung cancer screening between 2018 and 2019, and data were obtained for analysis from the China Biobank Project, a prospective nationwide multicenter population study. Lumbar spine (L1 -L2 ) trabecular volumetric bone mineral density (vBMD) was derived from these scans using quantitative computed tomography (QCT) software and the American College of Radiology QCT diagnostic criteria for osteoporosis were applied. Geographic regional differences in the prevalence of osteoporosis were assessed and the age-standardized, population prevalence of osteoporosis in Chinese men and women was estimated from the 2010 China census. The prevalence of osteoporosis by QCT for the Chinese population aged >50 years was 29.0% for women and 13.5% for men, equating to 49.0 million and 22.8 million, respectively. In women, this rate is comparable to estimates from dual-energy X-ray absorptiometry (DXA), but in men, the prevalence is double. Prevalence varied geographically across China, with higher rates in the southwest and lower rates in the northeast. Trabecular vBMD decreased with age in both men and women. Women had higher peak trabecular vBMD (185.4 mg/cm3 ) than men (176.6 mg/cm3 ) at age 30 to 34 years, but older women had lower trabecular vBMD (62.4 mg/cm3 ) than men (92.1 mg/cm3 ) at age 80 years. We show that LDCT-based opportunistic screening could identify large numbers of patients with low lumbar vBMD, and that future cohort studies are now required to evaluate the clinical utility of such screening in terms of fracture prevention and supporting national health economic analyses. © 2020 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR)..


Assuntos
Neoplasias Pulmonares , Osteoporose , Absorciometria de Fóton , Adulto , Idoso , Idoso de 80 Anos ou mais , Densidade Óssea , China/epidemiologia , Detecção Precoce de Câncer , Feminino , Humanos , Masculino , Osteoporose/diagnóstico por imagem , Osteoporose/epidemiologia , Prevalência , Estudos Prospectivos , Tomografia Computadorizada por Raios X
10.
Arch Osteoporos ; 15(1): 155, 2020 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-33025208

RESUMO

We compared the effect of anthropometric factors on osteoporosis diagnosis by quantitative computed tomography (QCT) and dual energy X-ray absorptiometry (DXA) and found QCT spine volumetric bone mineral density (vBMD) was not associated with body weight, body mass index (BMI) or DXA anteroposterior spine thickness. In contrast, DXA spine and hip areal bone mineral density (aBMD) were strongly associated with all three factors. Adjustment of DXA aBMD measurements improved consistency with QCT vBMD. PURPOSE: Although the diagnosis of osteoporosis using DXA T scores preferentially targets patients with BMI, there is evidence that obesity is not protective against fractures. The aim of this study was to compare the effect of anthropometric factors on osteoporosis diagnosis by QCT and DXA and investigate whether adjustment of DXA aBMD can achieve a more even distribution of diagnoses between slimmer and heavier individuals consistent with QCT. METHODS: The participants were 964 men and 682 women referred for low-dose chest CT and DXA examinations as part of their employers' health check-up programs. QCT vBMD was measured in the L1-L2 vertebrae and DXA aBMD in the spine and hip. The prevalence of osteoporosis in each tertile of BMI in participants aged > 50 years was evaluated based on their QCT and DXA findings, and then re-evaluated after adjustment to the mean BMI in each sex. Similar investigations were performed for body weight and DXA anteroposterior (AP) spine thickness. The effect of the adjustment of DXA aBMD for anthropometric factors on the correlation with QCT vBMD was also examined. RESULTS: For spine QCT, correlations of age adjusted vBMD residuals against BMI were not statistically significant in men (P = 0.44) or women (P = 0.32). In contrast, slopes for aBMD residuals were all highly statistically significant (P < 0.001). There were similar findings for weight and AP spine thickness. Adjustment of DXA aBMD for anthropometric factors resulted in a more equal spread of diagnoses of osteoporosis and greater consistency with QCT. CONCLUSION: Our study highlights differences between DXA and QCT in their correlation with anthropometric factors and its effect on the diagnosis of osteoporosis. Adjustment of DXA T scores for anthropometric factors gave greater consistency with QCT vBMD. Further studies are required into whether adjusting DXA aBMD for anthropometric factors has a beneficial impact on the discriminative or predictive power for vertebral fracture.


Assuntos
Osteoporose , Absorciometria de Fóton , Antropometria , Densidade Óssea , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoporose/diagnóstico por imagem , Osteoporose/epidemiologia , Tomografia Computadorizada por Raios X
11.
Beijing Da Xue Xue Bao Yi Xue Ban ; 46(2): 258-63, 2014 Apr 18.
Artigo em Chinês | MEDLINE | ID: mdl-24743817

RESUMO

OBJECTIVE: To analyze the minor allele frequencies (MAFs), haplotype block and haplotype frequencies for single nucleotide polymorphisms (SNPs) in SUMO1 using HapMap data and perform association analysis between SNPs in SUMO1 and non-syndromic cleft lip with or without cleft palate (NSCL/P) using 183 trios recruited from Shandong Province. METHODS: SNPs with MAF>0.01 and Hardy-Weinberg equilibrium (P>0.01) were identified as qualified SNPs by Haploview. The MAFs of qualified SNPs were analyzed and the relative range ratios of the MAFs were developed to measure the differences in MAFs for common qualified SNPs with mutual minor allele among the samples. Haplotype blocks and haplotype frequencies for common qualified SNPs in four samples were analyzed and compared among the samples. Transmission disequilibrium test (TDT) was carried out to identify the association between rs7599810 and NSCL/P using 183 NSCL/P case-parent trios. RESULTS: Among the 24 SNPs released by HapMap project, the number of monotonic SNPs was 9 in Han Chinese in Beijing, China (CHB) and Japanese in Tokyo, Japan (JPT) samples, 8 in Utah residents with Northern and Western European ancestry from the CEPH collection (CEU) sample, and 6 in Yoruban in Ibadan, Nigeria (YRI) sample. The 12 common qualified SNPs in the four samples formed one haplotype in each sample. There were 3, 3, 5, and 6 forms of haplotypes in the CHB, JPT, CEU, and YRI samples respectively, and the cumulative frequencies for the 2 most common haplotypes ranged from 0.634 to 0.922. Significant transmission disequilibrium of G allele at rs7599810 from parents to offspring was not shown (χ(2)=0.485, P=0.486, OR=0.898, 95% CI: 0.663-1.021) for rs7599810 in Shandong Han sample. CONCLUSION: SNPs in SUMO1 mainly showed common features in minor alleles, MAFs and haplotype blocks among CHB, JPT and CEU samples, but unique features in YRI compared with those for the other three samples. Although no association was established between the markers in SUMO1 and NSCL/P using data from Shandong Han population, our analysis suggests further studies are warranted.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Projeto HapMap , Polimorfismo de Nucleotídeo Único , Proteína SUMO-1/genética , Alelos , Povo Asiático , China , Frequência do Gene , Estudos de Associação Genética , Haplótipos , Humanos
12.
Beijing Da Xue Xue Bao Yi Xue Ban ; 43(6): 785-91, 2011 Dec 18.
Artigo em Chinês | MEDLINE | ID: mdl-22178821

RESUMO

OBJECTIVE: To provide basis for single nucleotide polymorphisms (SNPs) determination and analysis for ROR2 genes related etiologic studies in Chinese Hans in Beijing (CHB) and Yoruban in Ibadan in Nigeria (YRI) populations. METHODS: SNPs in ROR2 gene were analyzed and compared for minor allele frequencies (MAFs), haplotype frequencies, linkage disequilibrium patterns, and tag SNPs using CHB and YRI data from HapMap by Haploview 4.2 program. SNPs were screened for eligibility using quality control criteria of genotyping call rate>80%, Hardy-Weinberg equilibrium test P>0.01, gender difference P>0.05 and MAF>0.01. Tag SNPs were determined under the criteria for r(2)≥0.8 and logarithm of the odds radio≥3 in pairwise eligible SNPs and compared between the CHB and YRI samples. Common Tag SNPs for CHB and YRI were reported by Haploview program directly or identified among SNPs which were higly related to Haploview program directly reported tag SNPs by SPSS 13.0. RESULTS: Among the 404 and 403 SNPs genotyped in ROR2 genes in the CHB and YRI samples released by HapMap project, there were five SNPs located at exon 6 or 9 where changes of alleles for rs1076112 and rs10820900 caused missense mutation. Among the 394 SNPs genotyped in both the populations, a total number of 101 (25.6%) SNPs were monotonic among which 66 (65.3%) SNPs were common in both CHB and YRI. The rs1135150 and rs2230577 which were monotonic in YRI and eligible in CHB located at exon 9. Nine ungenotyped SNPs in CHB were all eligible in YRI, and 6 out of 10 ungenotyped SNPs in YRI were eligible in CHB. The proportion of common SNPs (214) were 81.4% and 73.3% in eligible CHB (263) and YRI (292) SNPs where 177 (82.7%) had the same minor alleles and 30 SNPs also had MAF difference ratios<20% that represented 11.4% and 10.3% of the total number of eligible SNPs in CHB and YRI respectively. Among the 18 and 26 haplotype blocks formed in 214 common eligible SNPs, two independent haplotype blocks were unique in CHB, one was unique in YRI, one was common between CHB and YRI, and the remaining 15 haplotype blocks in CHB were partially overlapped with the additional 24 ones formed in the YRI samples. A number of 44 common tag SNPs were determined in 77 (57.1%) CHB and 69 (35.2%) YRI tag SNPs where 35 were identified by Haploview program directly and 9 among highly related SNPs of tag SNPs by SPSS 13.0. Two unique haplotype blocks were formed in 44 common tag SNPs in CHB and YRI, respectivey. The cumulative haplotype frequencies were 91.8% and 93.9% for the top three haplotypes for each haplotype block in CHB and the numbers for the top two haplotypes were 81.4% and 92.5% for each haplotype block in YRI. CONCLUSION: Proportion of monotonic SNPs in ROR2 genes was rather big in the CHB and YRI samples tested by HapMap. SNPs in ROR2 genes mainly showed unique features in terms of minor alleles, MAF, haplotype blocks and haplotype frequencies for CHB and YRI populatons, which is consistent with their racial groups.


Assuntos
Frequência do Gene/genética , Projeto HapMap , Haplótipos , Polimorfismo de Nucleotídeo Único , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Adulto , China/etnologia , Feminino , Humanos , Masculino , Nigéria/etnologia
13.
Zhonghua Liu Xing Bing Xue Za Zhi ; 32(11): 1162-5, 2011 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-22336557

RESUMO

OBJECTIVE: Single nucleotide polymorphisms (SNPs) in receptor tyrosine kinase-like orphan receptor 2 (ROR2) gene were analyzed and compared between Han Chinese in Beijing (CHB) and Japanese in Tokyo (JPT) using the HapMap data, to provide basis for SNP determination. ROR2 gene related etiologic studies were conducted in the above mentioned two populations. METHODS: Monotonic and un-monotonic SNPs of ROR2 gene were distinguished by Haploview program. Minor allele frequency (MAF), haplotype blocks and haplotype frequencies were analyzed in eligible SNPs and tag SNPs respectively with genotyping call rate > 80%, MAF > 1%, H-W equilibrium (P > 0.01) and no gender difference (P > 0.05). Tag SNPs were determined under the criteria of r(2) ≥ 0.8 or logarithm of the odd score (LOD) ≥ 3 for pairwise eligible SNPs in CHB and JPT. Common tag SNPs for CHB and JPT were directly reported by Haploview program or being identified from those which were higly related to tag SNPs reported by haploview program under SPSS 13.0 software. RESULTS: A total of 404 common SNPs were provided for both CHB and JPT samples by HapMap, where 101 common monotonic SNPs between CHB and JPT had the common minor alleles. The common SNPs between CHB and JPT were 257. In the 257 common eligible SNPs, 224 (87.2%) had common minor alleles. Among the 18 and 27 haplotype blocks identified in 257 common eligible SNPs between CHB and JPT, except for 2 independent haplotype blocks identified only in JPT. Other haplotype blocks between CHB and JPT were overlapped partly or completely. A number of 50 common tag SNPs between CHB and JPT were determined and the proportions in CHB and JPT were 64.9% and 70.4% respectively. CONCLUSION: Analysis of HapMap data provided an opportunity to avoid monotonic SNPs that had been included in ROR2 gene related etiologic studies. SNPs in ROR2 gene had common features in alleles, MAF, haplotype blocks and haplotype frequencies between CHB and JPT populations, which were consistent with the geographic and ethnic origins of the two populations.


Assuntos
Povo Asiático/genética , Polimorfismo de Nucleotídeo Único , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Frequência do Gene , Genótipo , Haplótipos , Humanos
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