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1.
Egyptian Journal of Medical Human Genetics [The]. 2011; 12 (2): 187-192
em Inglês | IMEMR | ID: emr-126715

RESUMO

Reported to date, strong evidence exists in multiple studies for genetic predisposing in the development of diabetic nephropathy, and no studies addressed this issue among Egyptian population. The results of angiotensin converting enzyme gene [ACE] in the susceptibility to nephropathy in type 1 diabetes with nephropathy are conflicting. We aim to identify the associations of two ACE gene polymorphisms [PstI, A > G substitution and a 287-bp insertion/deletion] with nephropathy in type 1 diabetes in Egyptian children/adolescents. Our case-control study contained 140 diabetic individuals; 80 diabetic with nephropathy as cases, and 60 diabetic subjects without nephropathy as control group. Amplified DNA from peripheral leucocytes/buccal mucosa was genotyped for using polymerase chain reaction and enzymatic assay. We found no significant differences in the distribution of ACE insertion/deletion and PstI genotypes or allele frequencies were observed between the examined groups. Frequencies of PstI-indel haplotypes were similar in all of our study groups. In both cases and control subjects, ACE activity and microalbuminuria were highest among D/D homozygotes and lowest in I/I homozygotes, while a dissimilar result was seen in PstI polymorphism. Our findings in Egyptian population strongly conclude that there is no association between the ACE gene I/D and PstI polymorphisms with nephropathy in type 1 diabetes


Assuntos
Humanos , Masculino , Feminino , Nefropatias Diabéticas/genética , Polimorfismo Genético , Peptidil Dipeptidase A/sangue
2.
Egyptian Journal of Medical Human Genetics [The]. 2009; 10 (2): 228-236
em Inglês | IMEMR | ID: emr-97445

RESUMO

Diabetes mellitus is emerging as a major public health problem allover the world particularly Saudi Arabia. Recent studies reported that Uncoupling Protein 2 [UCP2] was associated with obesity and type 2 diabetes [T2D]. This study was conducted to clarify the contribution of polymorphism in UCP2 in obesity and T2D in the Saudi population. The distribution of the-866G/A polymorphism was examined in a case-control study including samples from 110 obese patients, 81 T2D patients, 96 obese-T2D patients and 100 healthy unrelated Saudi subjects. The-866G/A polymorphism were determined by using PCR/RFLP [polymerase chain reaction/restriction fragment length polymorphism] techniques. The results of this study showed that the frequency of the GG genotype was significantly higher in both obese and T2D patients [p-value= 0.000 1, p-value= 0.0 14, respectively] compared with healthy control. The G allele was significantly associated with increase risk of obesity [odd ratio, OR: 3.3; 95% confidence interval, CI: 1.37-7.98], but not with T2D [OR, 1.97; C1, 0.80-4.87]. In obese-T2D patients group, no significant correlation with-866G/A polymorphism [p= 0.067; OR, 1.21; C1, 0.25-2.80]. This unreeled study suggested that the G allele of UCP2-866G/A polymorphism was related to obesity, which indicated the possible role of this polymorphism in causing metabolic syndrome. This study concluded that the G allele of UCP2-866G/A polymorphism might be related to obesity and T2D which might be used as a predictive marker for obesity and T2D


Assuntos
Humanos , Masculino , Feminino , Obesidade , Proteínas Mitocondriais/sangue , Síndrome Metabólica , Genótipo
3.
Saudi Medical Journal. 2006; 27 (6): 804-807
em Inglês | IMEMR | ID: emr-80807

RESUMO

To determine if there is a significant correlation between different Helicobacter pylori [H. pylori] vacA genotypes strains and severe gastric clinical outcomes. A total of 1104 gastric biopsies from 368 patients who presented with symptoms suggestive of chronic gastritis or peptic ulcer were taken from the main hospitals in the western region of Saudi Arabia from July 2004 to July 2005. These samples were cultured for H. pylori, and a polymerase chain reaction [PCR] was carried out to determine vacA genotypes status. One hundred and three [28%] patients were positive for H. pylori using culture technique. The distribution of vacA genotypes was 13 for vacAs1m1, 47 for vacAs1m2 and 43 for vacAs2m2. None of the clinical isolates were vacAs2m1 positive. The study showed a significant correlation between the vacAs1m2 genotype and gastritis cases, and a significant correlation between vacAs1m1 genotype and ulcer cases. The results of this study might be used for the identification of high-risk patients who are infected by vacAs1m1 genotype H. pylori strains


Assuntos
Humanos , Úlcera Péptica/microbiologia , Proteínas de Bactérias/genética , Gastrite , Genótipo , Infecções por Helicobacter , Fatores de Risco , Reação em Cadeia da Polimerase , Úlcera Péptica/etiologia
4.
Saudi Medical Journal. 2005; 26 (12): 1926-1929
em Inglês | IMEMR | ID: emr-74765

RESUMO

To estimate the seroprevalence of IgG and IgA antibodies against Chlamydia pneumoniae [C. pneumoniae] among a sample of the Saudi population, and to evaluate whether there is a relationship between seropositivity to chronic infection with C. pneumoniae and the manifestation of symptomatic coronary heart disease [CHD]. We collected 273 sera samples from CHD patients and 273 sera samples from healthy matched controls from the Western region of Saudi Arabia during the period from November 2004 to May 2005. We tested anti-chlamydial IgG and IgA antibodies using enzyme-linked immunosorbent assay technique. We found 239 [87.5%] patients and 213 [78%] controls positive for C. pneumoniae IgG antibodies. However, 58 [21.2%] patients and 55 [23.9%] controls were positive for C. pneumoniae IgA antibodies. These results indicate a significant correlation between the presence of IgG antibodies and the development of CHD [p=0.003]. Data of this study showed that the presence of IgG antibodies has a 2-fold increase risk in development of CHD. We found no significant correlation between the existence of IgA antibodies and CHD. Our study indicates that C. pneumoniae infection plays an important role in the development of CHD in the Saudi community, emphasizing the importance of developing strategies for prevention and control against this type of bacterial infection. However, we need further study throughout the Kingdom to approve these results in all regions


Assuntos
Humanos , Chlamydophila pneumoniae/patogenicidade , Comorbidade , Estudos Soroepidemiológicos , Fatores de Risco , Doença das Coronárias/etiologia
5.
Annals of Saudi Medicine. 2004; 24 (1): 21-6
em Inglês | IMEMR | ID: emr-65232

RESUMO

The most common malignancy in men worldwide is cancer of the prostate and determinants of prostate cancer [PRCa] risk remain largely unidentified. Many candidate genes may be involved in PRCa, such as those that are central to cellular growth and differentiation in the prostate gland. We analysed the polymorphic CAG and GGN repeats sequence in exon 1 of the AR gene to determine if the number of repeats might be an indicator of PRCa risk in patients with BPH. The study evaluated 28 patients who presented with PRCa at least 6 years after the diagnosis of BPH and 56 matched patients with BPH who did not progress to PRCa over a comparable period. This study showed no evidence for association between the size of AR CAG and GGN repeats and the risk of the development of PRCa in patients with BPH. However, BPH patients with AR CAG instability had a 12-fold increased risk in development of PRCa. Conclusions: While independent confirmation is required in further studies, these results provide a potential tool to assist prediction strategies for this important disease


Assuntos
Humanos , Masculino , Neoplasias da Próstata , Repetições de Trinucleotídeos , Receptores Androgênicos/genética , Mosaicismo , Genes , Fatores de Risco
6.
Saudi Medical Journal. 2004; 25 (4): 447-451
em Inglês | IMEMR | ID: emr-68667

RESUMO

Prostate cancer [PRCa] is one of the most common causes of cancer death in men and determinants of PRCa risk remain largely unidentified. Benign prostatic hyperplasia [BPH] is found in the majority of ageing men and has been associated with PRCa. Many candidate genes have been suggested to be involved in PRCa, such as those that are central to cellular growth and differentiation in the prostate gland. The vitamin D receptor [VDR] and HER-2 protooncogene have been shown to be involved in the regulation of cell proliferation and differentiation in prostate cells. Genetic variations of these genes could be useful to detect BPH patients that have a higher risk of developing PRCa. This study used a case-control design to assess the predictive value of 3 polymorphisms in VDR [TaqI and FokI] and HER-2 [Val655Ile] to determine the risk of developing PRCa in patients with BPH. Polymorphisms were detected by RFLP analysis. The study evaluated 28 patients who presented with PRCa at least 6 years after the diagnosis of BPH and 56 matched patients with BPH who did not progress to PRCa over a comparable period. The study was carried out in University of Aberdeen, Foresterhill, Aberdeen, United Kingdom in the year 2002. Among the case group, 89% had a TT TaqI genotype, whereas 57% of control had this genotype [odds ratio [OR] = 5.16, 95% confidence interval [CI] = 1.46-18.22]. A similar pattern was seen for the FokI genotype, although this was not statistically significant [OR = 2.33, 95% CI = 0.86-6.29]. The frequency of the HER-2 Ile/Ile genotype was higher in cases [79%] compared to control subjects [66%], although this was not statistically significant [OR = 1.94, 95% CI = 0.67-5.63]. This study shows that the VDR TaqI polymorphism is associated with a group of men with BPH who are at an increase risk of PRCa, providing a potential tool to assist prediction strategies for this important disease


Assuntos
Humanos , Masculino , Hiperplasia Prostática , Receptores de Calcitriol , Polimorfismo de Nucleotídeo Único , Genes erbB-2 , Risco , Estudos de Casos e Controles , Genótipo , Reação em Cadeia da Polimerase
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