Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.

[familial mediterranean fever]

1 . Familial Mediterranean fever (FMF ) is considered an autosomal recessive disorder , associated with a single gene named Mediterranean fever (MEFV ). The aim of this study was to perform genotyping and haplotyping analysis of the multidrug resistance (ATP-binding cassette , subfamily B , member 1 - ABCB 1 ) gene in FMF patients . 2 . Three ABCB 1 gene polymorphisms (C 1236 T , G 2677 T /A and C 3 435 T ) were analyzed in 309 FMF patients and 250 healthy control subjects . All subjects were genotyped by PCR-restriction fragment length polymorphism analysis , and statistical analysis was performed using the Arlequin 3 .1 .1 and SPSS 16 .0 software packages . 3 . The CT genotype frequency of the C 3 435 T polymorphism (p = 0 .003 ), the CT -GT-CT (C 1236 T -G 2677 T /A-C 3 435 T ) triple genotype (p = 0 .001 ) and the C-G (C 1236 T -G 2677 T /A ) haplotype (p = 0 .030 ) were more common in the FMF patients . The CT -GG-CC triple genotype and T -G-C , C-T -T and T -G-T haplotypes (C 1236 T -G 2677 T /A-C 3 435 T ) were higher in the control subjects (p = 0 .011 , 0 .001 , 0 .009 and 0 .000 , respectively ). The CT -GG binary genotype and C-T and T -G haplotypes for C 1236 T -G 2677 T /A polymorphisms may have a high degree of protective effect against FMF (p = 0 .0005 , 0 .002 and 0 .000 , respectively ). 4 . Our study showed that genotypes and haplotypes of ABCB 1 gene polymorphisms may affect patients ' FMF susceptibility .

Diseases
Validation

Diseases presenting "fever" symptom

22q11.2 deletion syndrome

acute rheumatic fever

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

carcinoma of the gallbladder

child syndrome

congenital toxoplasmosis

cushing syndrome

cystinuria

dracunculiasis

erdheim-chester disease

esophageal adenocarcinoma

esophageal carcinoma

familial mediterranean fever

focal myositis

hodgkin lymphoma, classical

lamellar ichthyosis

legionellosis

locked-in syndrome

malignant atrophic papulosis

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

papillon-lefèvre syndrome

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated