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Relationship between XPD Lys 751 Gln polymorphism and colorectal cancer risk: a case-control study in a population-based study.

Rezaei H, Motovali-Bashi M, Khodadad K, Elahi A, Emami H, Naddaffnia H - Gastroenterol Hepatol Bed Bench (2013)

Bottom Line: These chemicals can form DNA adducts in vivo and thus lead to DNA damage.However the results are not statistically significant.This study suggests that individuals with heterozygous polymorphism (Lys/Gln) may have an increased susceptibility to colorectal cancer compared to other polymorphisms (Lys/Lys and Gln/Gln).

View Article: PubMed Central - PubMed

Affiliation: Genetic Division, Biology Department, School of Sciences, The University of Isfahan, Isfahan, Iran.

ABSTRACT

Aim: In our study, we analyzed the allelic frequency of XPD Lys751Gln polymorphism of the XPD gene and the correlation between its variant alleles with colorectal cancer in patients and control groups.

Background: Human cells are routinely exposed to mutagenic and carcinogenic aromatic amines via smoking, pollution areas and other sources. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. Amongst the known genetic polymorphisms of the DNA-repair genes the xeroderma pigmentosum group D (XPD, also known as ERCC2) has been the most extensively studied most commonly.

Patients and methods: This study has examined the relationship between the XPD Lys 751 Gln polymorphism and colorectal cancer in 88 patients and their 88 age and sex-matched controls. Genomic DNA from peripheral whole blood was extracted using Miller method to determine the genotype of subjects with RFLP-PCR analysis.

Results: This study shows cancer patients have more of the heterozygous genotype (XPD Lys 751 Gln) compared to control group. However the results are not statistically significant. Furthermore, colorectal cancer was less common in individuals with recessive homozygous genotype (P< 0.0001).

Conclusion: This study suggests that individuals with heterozygous polymorphism (Lys/Gln) may have an increased susceptibility to colorectal cancer compared to other polymorphisms (Lys/Lys and Gln/Gln).

No MeSH data available.


Related in: MedlinePlus

RFLP analysis of the XPD Lys751Gln polymorphism. Fragment sizes (bp) for each genotype with cut PCR product by PstI enzyme, along with the Marker (molecular size standard as M) are shown. Notably, the 63 bp on the gels used are not resolved.
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Figure 0001: RFLP analysis of the XPD Lys751Gln polymorphism. Fragment sizes (bp) for each genotype with cut PCR product by PstI enzyme, along with the Marker (molecular size standard as M) are shown. Notably, the 63 bp on the gels used are not resolved.

Mentions: To ensure the proper functioning of restriction enzyme, primers were designed to cut a natural site, and create bands of 105 bp and 371 bp (Fig. 1, AA, when there aren't any polymorphisms). In the presence of polymorphism, restriction enzyme makes 63 bp, 105 bp, 308 bp and 371bp in the heterozygous state (Fig. 1, AC) and 63bp, 105 bp, 308 bp in the homozygote state (Fig. 1, CC). Finally, to demonstrate reproducibility, 27 samples (case and control) (15.34%) were randomly re-genotype.


Relationship between XPD Lys 751 Gln polymorphism and colorectal cancer risk: a case-control study in a population-based study.

Rezaei H, Motovali-Bashi M, Khodadad K, Elahi A, Emami H, Naddaffnia H - Gastroenterol Hepatol Bed Bench (2013)

RFLP analysis of the XPD Lys751Gln polymorphism. Fragment sizes (bp) for each genotype with cut PCR product by PstI enzyme, along with the Marker (molecular size standard as M) are shown. Notably, the 63 bp on the gels used are not resolved.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4017488&req=5

Figure 0001: RFLP analysis of the XPD Lys751Gln polymorphism. Fragment sizes (bp) for each genotype with cut PCR product by PstI enzyme, along with the Marker (molecular size standard as M) are shown. Notably, the 63 bp on the gels used are not resolved.
Mentions: To ensure the proper functioning of restriction enzyme, primers were designed to cut a natural site, and create bands of 105 bp and 371 bp (Fig. 1, AA, when there aren't any polymorphisms). In the presence of polymorphism, restriction enzyme makes 63 bp, 105 bp, 308 bp and 371bp in the heterozygous state (Fig. 1, AC) and 63bp, 105 bp, 308 bp in the homozygote state (Fig. 1, CC). Finally, to demonstrate reproducibility, 27 samples (case and control) (15.34%) were randomly re-genotype.

Bottom Line: These chemicals can form DNA adducts in vivo and thus lead to DNA damage.However the results are not statistically significant.This study suggests that individuals with heterozygous polymorphism (Lys/Gln) may have an increased susceptibility to colorectal cancer compared to other polymorphisms (Lys/Lys and Gln/Gln).

View Article: PubMed Central - PubMed

Affiliation: Genetic Division, Biology Department, School of Sciences, The University of Isfahan, Isfahan, Iran.

ABSTRACT

Aim: In our study, we analyzed the allelic frequency of XPD Lys751Gln polymorphism of the XPD gene and the correlation between its variant alleles with colorectal cancer in patients and control groups.

Background: Human cells are routinely exposed to mutagenic and carcinogenic aromatic amines via smoking, pollution areas and other sources. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. Amongst the known genetic polymorphisms of the DNA-repair genes the xeroderma pigmentosum group D (XPD, also known as ERCC2) has been the most extensively studied most commonly.

Patients and methods: This study has examined the relationship between the XPD Lys 751 Gln polymorphism and colorectal cancer in 88 patients and their 88 age and sex-matched controls. Genomic DNA from peripheral whole blood was extracted using Miller method to determine the genotype of subjects with RFLP-PCR analysis.

Results: This study shows cancer patients have more of the heterozygous genotype (XPD Lys 751 Gln) compared to control group. However the results are not statistically significant. Furthermore, colorectal cancer was less common in individuals with recessive homozygous genotype (P< 0.0001).

Conclusion: This study suggests that individuals with heterozygous polymorphism (Lys/Gln) may have an increased susceptibility to colorectal cancer compared to other polymorphisms (Lys/Lys and Gln/Gln).

No MeSH data available.


Related in: MedlinePlus