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Intercellular adhesion molecule-1 gene polymorphisms in patients with familial mediterranean fever

100%

Kobak S. , Celebi A. , Oksel F. , Kabasakal Y. , Akarca U.

Open Medicine

2010

tom 5

nr 6

679-682

Familial Mediterranean fever (FMF) is a disease of unknown etiology characterized by recurrent attacks of polyserositis and fever. Intercellular adhesion molecule-1 (ICAM-1) is known to contribute inflammatory conditions by regulating leukocyte localization at inflammatory sites. The aim of this study was to evaluate the probable association of ICAM-1 G/R 241 and ICAM-1 E/K 469 polymorphisms according to susceptibility with FMF. Sixty-seven FMF patients and 83 healthy volunteers were included in the study. Genomic DNA was extracted from EDTA-preserved whole blood of whole series of patients and controls, and genotyped by polymerase chain reaction (PCR) and allele-specific oligonucleotide techniques for ICAM-1 polymorphisms G/R at codon 241 and E/K at codon 469. The ICAM-1 241 genotype and allele frequencies of FMF patients and healthy volunteers were similar. The frequency of ICAM-1 K469 homozygosity was significantly lower in FMF patients than in the controls (32.8% vs 50.7% subsequently, p=0.03). Moreover, ICAM-1 E469 allele was more frequent in FMF patients than in controls (44.8% vs 32.3%, p:0.03). Our results showed that ICAM-1 469 gene polymorphism could contribute to the pathogenesis of FMF.

Familial multiple myeloma. Two more families

100%

Várkonyi J. , Farkas P. , Tamáska J. , Masszi T. , Gopcsa L. , Padányi Á. , Rajczy K.

Open Medicine

2009

tom 4

nr 4

501-505

The authors report on two multiple myeloma sibling pairs. In the absence of a known disease-specific marker one can only speculate on an explanation: is it because of inherited errors or is it related to the same environmental exposure, or both? In this study HLA typing and metabolizing enzyme polymorphism studies have been carried out with the aim of finding inherited similarities in the siblings or characteristics that might differ from the average population. Sibling pair 1 shared an HLA haplotype. Sibling pair 2 shared only HLA-B51, DR4, DRw53, DQ3. Sibling 1/1 was GSTT1 / GSTM1 null and GSTP1 Ile105Val; sibling 1/2 was a GSTT1 / GSTM1 heterozygote and GSTP1 Ile105Val; sibling 2/1 and 2/2 were GSTT1 heterozygotes and shared GSTM1 null / GSTP1 Ile105Ile. The siblings had identical light chain or heavy chain secretion, or both. The similarities found in the inherited factors together with the same environmental exposure in the siblings’ first 20 years of life imply that the development of the same disease cannot be a coincidence.