Association analysis of threeABCB1(MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever

Abstract

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.

Genetic variations in ABC transporter genes as a predictive biomarker for toxicity in North Indian lung cancer patients undergoing platinum‐based doublet chemotherapy

“…Each SNP was genotyped using the polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) method. PCR‐RFLP for the four SNPs of ABCB1 C 1236 T (rs1128503), C 3435 T (rs1045642), G 2677 A (rs2032582), and G 2677 T (rs2032582) were investigated, as reported earlier by, Rustemoglu et al and Panczyk et al [ 22,23 ]…”

“…Each SNP was genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. PCR-RFLP for the four SNPs of ABCB1 C 1236 T (rs1128503), C 3435 T (rs1045642), G 2677 A (rs2032582), and G 2677 T (rs2032582) were investigated, as reported earlier by, Rustemoglu et al and Panczyket al [22,23] For the ABCC1 gene, PCR-RFLP of the two polymorphisms G 2168 A (rs4148356) and G 3173 A (rs41410450) were performed as explained previously. [24] The genotyping for ABCC2 G 4544 A (rs8187710) polymorphism was done as initially reported by Daly et al [25] The ABCG2 variant, C 421 A (rs2231142), was genotyped using allele-specific PCR (AS-PCR) assay.…”

Impact of ABCB1, ABCC1, ABCC2, and ABCG2 variants in predicting prognosis and clinical outcomes of north Indian lung cancer patients undergoing platinum‐based doublet chemotherapy

“…Each single nucleotide polymorphism (SNP) was genotyped using the polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) or allele‐specific PCR (AS‐PCR) method in the Department of Biotechnology of Thapar Institute of Engineering and Technology, Patiala, India. PCR‐RFLP for the four SNPs of ABCB1 gene C 1236 T (rs1128503), C 3435 T (rs1045642), G 2677 A (rs2032582), and G 2677 T (rs2032582) was performed as previously reported 20,21 . For the ABCC1 polymorphism, PCR‐RFLP of the two polymorphisms G 2168 A (rs4148356) and G 3173 A (rs41410450) was carried out as previously described 22 .…”

“…PCR-RFLP for the four SNPs of ABCB1 geneC 1236 T (rs1128503), C 3435 T (rs1045642), G 2677 A (rs2032582), and G 2677 T (rs2032582) was performed as previously reported. 20,21 For the ABCC1 polymorphism, PCR-RFLP of the two polymorphisms G 2168 A (rs4148356) and G 3173 A (rs41410450) was carried out as previously described. 22 For ABCC2 G 4544 A (rs8187710) polymorphism, the genotyping was carried out as previously reported.…”

Role of ABCB1 C1236T, G2677T, and C3435T genetic polymorphisms in the development of acute leukemia in a Chinese population

“…G2677T (rs2032582) located in exon 21, C3435T (rs1045642) in exon 26, and C1236T (rs1128503) in exon 12 exhibit a certain degree of linkage (Rustemoglu et al, 2014;Saidijam et al, 2015). In recent years, several studies have evaluated the relationship between the ABCB1 C1236T, G2677T, and C3435T polymorphisms and development of acute leukemia, but the results are conflicting (Urayama et al, 2007;Wang et al, 2007;Kreile et al, 2014;Pongstaporn et al, 2015).…”