PP38. GENOTYPING IN TUMOR AND ADJACENT NORMAL TISSUES OF 3435 C>T AND 2677 G>T MDR1 POLYMORPHISMS IN BULGARIAN PATIENTS WITH COLORECTAL CANCER AND CONTROLS
D. T. PETROVA1, P. Nedeva2, S. Maslyankov3, S. Toshev4, N. Yaramov4, S. Atanasova5, D. Toncheva1, M. Oellerich5, N. von Ahsen51Department of Medical Genetics, Medical University-Sofia, Sofia, Bulgaria, 2Department of Pathology, Regional Oncology Dispensary with Inpatient sector, Veliko Tarnovo, Bulgaria, 3Department of Surgery, Regional Oncology Dispensary with Inpatient sector, Veliko Tarnovo, Bulgaria, 4Department of Surgery, University Hospital "Aleksandrovska", Sofia, Bulgaria, 5Department of Clinical Chemistry, Georg-August-University, Goettingen, Germany. e-mail: darinka_petrova@abv.bg
*Corresponding Author:
page: 63

Abstract

The largest area of interaction between host and environment in humans is between intestinal epithelium and luminal contents. Variations in genetic factors together with xenobiotic exposure to compounds from diet, cigarette smoke, drugs, bacterial toxins or others are associated with increased risk of colorectal cancer. Therefore, the MDR1 efflux pump could be a possible link between genetic and environmental factors for colorectal cancerogenesis.

In our study 146 Bulgarian patients (76 women and 71 men; ratio 1:1,1) at mean age 65+/-9 were enrolled for genotyping of two SNPs, located in exon coding regions in MDR1 (3435 C>T and 2677 G>T). The results were compared to the results of a control group which consisted of 160 unrelated healthy Bulgarian volunteers (84 women and 76 men; ratio 1:1,1) at mean age 59+/-10. Gene polymorphisms were identified using rapid-cycle real-time amplification with allele specific probes and subsequent melting curve analyses on a LightCycler (Roche Diagnostics).

The observed allele and genotype frequencies among the patient and control groups were summarized in table 1. The frequencies of all genotypes were in Hardy–Weinberg equilibrium in both groups. Our results showed that the frequencies of MDR1 polymorphisms 3435 C>T  and 2677 G>T did not correlate with colorectal tumorigenesis.

We also analyzed the MDR1 polymorphisms in both tumor and normal intestinal tissues of 80 patients and concluded that no evidence of somatic mutations was observed in the tumor samples as genotypes always matched with those of the corresponding normal tissue samples.

 

Table 1. Allele and genotype frequencies of MDR1 3435 C>T and 2677 G>T in patients with colorectal cancer and healthy volunteers of Bulgarian origin

 

 

SNPs in MDR1

Patients (N=146)

Controls (N=160)

 

P-value

n

Frequency

n

Frequency

3435 C>T

wt allele

m allele

Genotypes

wt/wt

wt/m

m/m

 

151

141

 

36

79

31

 

0,517

0,483

 

0,247

0,541

0,212

 

157

163

 

43

71

46

 

0,491

0,509

 

0,269

0,444

0,287

 

 

0,512

 

 

0,199

2677 G>T

wt allele

m allele

Genotypes

wt/wt

wt/m

m/m

 

165

127

 

46

73

27

 

0,565

0,435

 

0,315

0,500

0,185

 

179

141

 

55

69

36

 

0,559

0,441

 

0,344

0,431

0,225

 

 

0,888

 

 

0,458

wt allele-wild-type allele; m allele-variant allele; N-number of studied individuals; n-number of alleles or number of heterozygous, homozygous

 




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