RGD Reference Report - Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever. - Rat Genome Database

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

Authors: Rustemoglu, Aydin  Gumus-Akay, Guvem  Karakus, Nevin  Yigit, Serbulent  Sahin, Server  Tasliyurt, Turker 
Citation: Rustemoglu A, etal., Xenobiotica. 2014 Oct;44(10):933-40. doi: 10.3109/00498254.2014.915071. Epub 2014 Apr 28.
RGD ID: 39456095
Pubmed: (View Article at PubMed) PMID:24773260
DOI: Full-text: DOI:10.3109/00498254.2014.915071

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 - ABCB1) gene in FMF patients. 2. Three ABCB1 gene polymorphisms (C1236T, G2677T/A and C3435T) 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 C3435T polymorphism (p = 0.003), the CT-GT-CT (C1236T-G2677T/A-C3435T) triple genotype (p = 0.001) and the C-G (C1236T-G2677T/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 (C1236T-G2677T/A-C3435T) 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 C1236T-G2677T/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 ABCB1 gene polymorphisms may affect patients' FMF susceptibility.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Abcb1a  (ATP binding cassette subfamily B member 1A)

Genes (Mus musculus)
Abcb1a  (ATP-binding cassette, sub-family B (MDR/TAP), member 1A)

Genes (Homo sapiens)
ABCB1  (ATP binding cassette subfamily B member 1)


Additional Information