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Related Concept Videos

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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XPO5 Polymorphism in Colon Cancer Patients: A Cross-Sectional Study.

Tugba Agbektas1, Husnu Cagrı Genc2, Cemile Zontul3

  • 1Department of Food Processing Technologies Services, Yıldızeli Vocational School, Sivas Cumhuriyet University, Sivas 58140, Türkiye.

International Journal of Molecular Sciences
|January 10, 2026
PubMed
Summary

This study found no significant link between the XPO5 gene polymorphism (rs11544382) and colon cancer risk. Further research with larger sample sizes is recommended to confirm these findings for colon cancer (CC) genetics.

Keywords:
XPO5 genecolon cancerpolymorphismrs11544382

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Area of Science:

  • Genetics and Oncology
  • Molecular Biology
  • Cancer Research

Background:

  • Colon cancer (CC) is a significant global health concern.
  • Genetic factors play a role in CC development.
  • The role of specific gene polymorphisms, like XPO5 (rs11544382), in CC susceptibility requires further investigation.

Purpose of the Study:

  • To investigate the association between the XPO5 gene polymorphism (rs11544382) and the risk of developing colon cancer.
  • To analyze the genotypic frequencies of XPO5 (rs11544382) in colon cancer patients and healthy controls.

Main Methods:

  • Cross-sectional study design involving 120 participants (60 CC patients, 60 controls).
  • Genotyping of the XPO5 gene polymorphism (rs11544382) using real-time PCR (qPCR).
  • Statistical analysis employing logistic regression and Chi-square (χ2) tests.

Main Results:

  • No statistically significant association was found between the XPO5 rs11544382 polymorphism (GG genotype) and colon cancer risk.
  • The heterozygous AG genotype was the most prevalent in both colon cancer patients (86.7%) and controls (91.7%).
  • Smoking and alcohol consumption were identified as significant risk factors for colon cancer (p < 0.05).

Conclusions:

  • The XPO5 gene polymorphism rs11544382 does not appear to be associated with colon cancer risk in the studied population.
  • Lifestyle factors such as smoking and alcohol consumption are significantly linked to colon cancer.
  • Larger, more comprehensive studies are warranted to definitively establish the relationship between XPO5 (rs11544382) and colon cancer susceptibility.