A whole genome screen for linkage in Turkish multiple sclerosis

PubMedID: 14575909Factors exerting recessive effects on susceptibility to complex traits are expected to be over-represented in communities having a higher frequency of consanguineous marriage. Multiple sclerosis, a typical complex trait, is relatively common in Turkey where cultural factors also determine a high rate of consanguineous marriage. Previous genetic studies of multiple sclerosis in Turkey have been confined to the search for associations with candidate genes. In order to exploit the special genetic features of the Turkish population, we performed a whole genome screen for linkage in 43 Turkish multiplex families employing 392 microsatellite markers. Two genomic regions where maximum lod score (MLS) values were suggestive of linkage were identified (chromosomes 13q and 18q23) along with a further 14 regions of potential linkage. Parametric analysis of these data using a recessive model, appropriate for populations with a high frequency of consanguinity, increased the LOD scores in four regions. © 2003 Elsevier B.V. All rights reserved.Mineralogical Society of Great Britain and Ireland: 659/01 Wellcome Trust: 057097 NIMDER-01-001We wish to thank all those affected with multiple sclerosis and their families who were involved in this research project. We thank the Turkish Neuroimmunology Society (Grant No. NIMDER-01-001), Ms. and Mr. Turkkan, Ms. and Mr. Sokmenoglu for the financial support. Dr. Murat Kurtuncu was supported by grants from the Turkish Brain Research Society. This work was supported by the Multiple Sclerosis Society of Great Britain and Northern Ireland (Grant No. 659/01) and the Wellcome Trust (Grant No. 057097)

HLA genotypes in Turkish patients with myasthenia gravis: comparison with multiple sclerosis patients on the basis of clinical subtypes and demographic features

The nature and intensity of the association of myasthenia gravis (MG) with distinct human leukocyte antigens (HLA) haplotypes differ between ethnic populations. The aims of the present study were to examine the relationship between HLA class I and II haplotypes and MG; to show the HLA associations with various MG subsets; and to investigate the association between MG and clinical subgroups of multiple sclerosis (MS) regarding HLA haplotypes. A total of 66 patients with MG were enrolled onto the study. The mean age at onset was 42.01 years. A total of 122 clinically definite MS patients and 188 healthy subjects were examined as control groups. The present study clearly showed associations with HLA-DR3, -B8, -A1, and -A2 in MG. In patients with early-onset MG, associations with HLA-DR3, -B8, and -A2 were stronger. When compared with MS, in the MG group, there was still a strong association with -B8, -DR3, and -A1. In subgroup analysis, there was no difference between MG and primary progressive MS patients. On the basis of the presence of anti-AChR antibodies, there was a statistically significant association with HLA-DR3. On the basis of presence of thymoma, no HLA allele showed clear associations in MG patients with thymoma. This is the first study to examine the relationship between HLA haplotypes and MG in the Turkish population and to compare MG with another autoimmune disease, MS, on the basis of the HLA haplotypes. Further investigations with a larger population are required to explain this finding

Guillain-Barré Syndrome and Swallowing Dysfunction

PubMed ID: 28873071Purpose: Patients with Guillain-Barré syndrome (GBS), especially severe cases that require treatment in intensive care units, often experience swallowing difficulties. However, the oropharyngeal function of patients with GBS not treated in intensive care units is not typically evaluated using neurophysiological techniques. Methods: Electrophysiological techniques were used to determine dysphagia limit and sequential water swallowing values in an electromyography laboratory. Results: This study assessed 18 patients with GBS who were not treated in the intensive care unit between 4 and 45 days after their hospital admission; 18 healthy volunteers were used as a control group. Of the 18 patients with GBS, 7 exhibited the clinical involvement of either a single cranial nerve or a combination of cranial nerves while 11 did not show any lower cranial nerve involvement. Clinical dysphagia was observed in seven patients and six of these cases involved a lower cranial nerve while five patients without cranial nerve involvement had silent dysphagia according to the dysphagia limit test. In addition, the duration of sequential swallowing was significantly prolonged in all patients with GBS compared with the control subjects. Conclusions: The present findings demonstrated that neurophysiological techniques are useful and easily applicable for patients with GBS and that there were no complications. Furthermore, cranial nerve involvement in patients with GBS likely increased the incidence of oropharyngeal dysphagia, and subclinical dysphagia may be present in this population as well. Therefore, neurophysiological techniques can be initially used and then repeated during follow-up visits for all types of patients with GBS. © Copyright 2017 by the American Clinical Neurophysiology Society

A whole genome screen for linkage in Turkish multiple sclerosis

Factors exerting recessive effects on susceptibility to complex traits are expected to be over-represented in communities having a higher frequency of consanguineous marriage. Multiple sclerosis, a typical complex trait, is relatively common in Turkey where cultural factors also determine a high rate of consanguineous marriage. Previous genetic studies of multiple sclerosis in Turkey have been confined to the search for associations with candidate genes. In order to exploit the special genetic features of the Turkish population, we performed a whole genome screen for linkage in 43 Turkish multiplex families employing 392 microsatellite markers. Two genomic regions where maximum lod score (MLS) values were suggestive of linkage were identified (chromosomes 13q and 18q23) along with a further 14 regions of potential linkage. Parametric analysis of these data using a recessive model, appropriate for populations with a high frequency of consanguinity, increased the LOD scores in four regions. (C) 2003 Elsevier B.V. All rights reserved

A whole genome screen for linkage in Turkish multiple sclerosis

Factors exerting recessive effects on susceptibility to complex traits are expected to be over-represented in communities having a higher frequency of consanguineous marriage. Multiple sclerosis, a typical complex trait, is relatively common in Turkey where cultural factors also determine a high rate of consanguineous marriage. Previous genetic studies of multiple sclerosis in Turkey have been confined to the search for associations with candidate genes. In order to exploit the special genetic features of the Turkish population, we performed a whole genome screen for linkage in 43 Turkish multiplex families employing 392 microsatellite markers. Two genomic regions where maximum lod score (MLS) values were suggestive of linkage were identified (chromosomes 13q and 18q23) along with a further 14 regions of potential linkage. Parametric analysis of these data using a recessive model, appropriate for populations with a high frequency of consanguinity, increased the LOD scores in four regions. (C) 2003 Elsevier B.V. All rights reserved

A genome screen for linkage disequilibrium in Turkish multiple sclerosis

In order to screen the Turkish population for evidence of association with multiple sclerosis, we typed 6000 microsatellite markers in separately pooled DNA samples from 197 cases and 199 controls following the Genetic Analysis of Multiple sclerosis in Europeans (GAMES) protocol. Twelve markers showing evidence for association were identified. One of these markers lying directly in a region which is also implicated in the Turkish linkage screen (chromosome 5p15) and thus shows evidence for both linkage and association in independent data sets. (C) 2003 Elsevier B.V. All rights reserved