Juvenil romatoid artritte risk faktörü olarak tümör nekrozis faktör-alfa gen polimorfizmi

TÜBİTAK SBAG AYD Proje15.04.2001Amaç: TNF-$\alpha$ geninin promotor bölgesindeki G-->A -238 ve G->A -308 polimorfızmlerinin, JRA'te hastalık tipi ve klinik seyri ile ilişkisini araştırmak. Metot: Durban sınıflandırmasına göre JEA tanısı konulan 51 Türk, 159 Çek JRA hastası çalışmaya alındı. Her iki etnik gruptan 100'er sağlıklı birey kontrol grubunu oluşturdu. Doktor değerlendirmesine göre hastalık aktivitesinde, şiş ve ağrılı eklem sayısında ve ESH'ında %50 ve üzerinde azalma iyi klinik yanıt olarak değerlendirildi. Periferik kandan izole edilen DNA örneklerinde TNF-$\alpha$ 238 G/A ve 308 G/A polimorfızmleri analiz edildi. Bulgular: İki etnik grup arasında bazı demografik farklılıklar saptandı. Türk grubunda G->A - 308 polimorfızmi ve kötü klinik seyir ilişikisi istatistiksel olarak anlamlı bulundu (p:0.005). Ancak Çek grubunda böyle bir ilişki saptanamadı. Sonuç: TNF-$\alpha$ geninin promotor bölgesindeki G->A -308 polimorfızmi daha ciddi bir hastalık seyri ile ilişkili bulunduğundan bu polimorfızmin kötü prognozlu ve belki daha ağır tedavi gerektiren hastalrı tanımlayabileceği düşünülmüştür. Bu ilişkinin Çek grubunda gösterilmemiş olması söz konusu polimorfızmin sadece seçilmiş gruplarda hastalık seyrini etkilediğini düşündürebilir

Influence of Reduced Folate Carrier and Aminoimidazole Carboxamide Ribonucleotide Transformylase gene polymorphisms on the efficacy of methotrexate in juvenile idiopathic arthritis

PubMe

Association of Loxl1 Gene Polymorphisms with Exfoliation Syndrome/Glaucoma and Primary Open Angle Glaucoma in A Turkish Population

Purpose To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. Methods Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. Results The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198–0.564, p=2.54×10−5) and XFG (OR=0.366, 95% CI: 0.219–0.611, p=8.56×10−5) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003–0.188, p=3.69×10−9). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45×10−8) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358–0.776, p=0.001). Conclusions The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.PubMedWo

A Baseline Algorithm For Molecular Diagnosis Of Genetic Eye Diseases: Ophthalmologist’S Perspective

PubMe

Selective Feticide of The Aneuploid Fetus in a Twin Pregnancy: A Case Reports

An obstetric ultrasound of a 38 years old woman with a dichorionic diamniotic twin pregnancy showed an increased nuchal translucency and absent nasal bone in one of the fetuses suggesting us an increased risk f or Down Sy ndrome (DS). This fetus was detected to hav e trisomy 21 (47, XX+21) by investigation of the amniocentesis material and was selectively undergone feticide process at 20 weeks of gestation. The other f etus (46, XX) was successf ully delivered at 36 weeks without any complications

Gorlin Syndrome in Eleven Patients

Aim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome instability was suspected as a mechanism for cancer predisposition. However, previous studies failed to prove the presence of chromosome instability. Materials and Methods: We present 11 patients with Gorlin syndrome. Results: Six of the patients were checked for increased sister chromatid exchange and were found normal. Two other patients had concurrent chromosome anomalies. Conclusion: Evidence for chromosome instability was not found in our patients. Occurrence of chromosome instability in a subgroup of patients and mechanisms underlying cancer predisposition requires further studies for full elucidation. Hairy patches and pigmentary skin lesions are among the recently defined common features of the syndrome

A Diagnosis to Consider in An Adult Patient With Facial Features And Intellectual Disability: Williams Syndrome

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being

Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study

Genome wide association studies (GWAS) determine susceptibility profiles for complex diseases. In this study, GWAS was performed in 26 patients with oligo and rheumatoid factor negative polyarticular juvenile idiopathic artritis (JIA) and their healthy parents by Affymetrix 250K SNP arrays. Biological function and pathway enrichment analysis was done. This is the first GWAS reported for JIA families from the eastern Mediterranean population. Enrichment of Fc gamma R-mediated phagocytosis pathway and response to various stimuli were the leading discoveries, along with the presentation of the strong interaction of JIA-associated genes with HLA cluster in the co-expression network. The co-expression network also presented the direct interaction of a gene in Fc gamma R-mediated phagocytosis pathway, namely GAB2, with BLK, CDH13, IL4R and MICA. The systems biology approach helped us to investigate the interactions between the identified genes and biological pathways and molecular functions, expanding our understanding of JIA pathogenesis at molecular level