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 "high degree" symptom

alpha-thalassemia

cadasil

carcinoma of the gallbladder

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

familial mediterranean fever

gm1 gangliosidosis

harlequin ichthyosis

heparin-induced thrombocytopenia

hodgkin lymphoma, classical

kindler syndrome

oligodontia

phenylketonuria

primary effusion lymphoma

pyomyositis

triple a syndrome

trochlear dysplasia

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