Polymorphisms of the Stem Cell Marker Gene CD133 and the Risk of Lung Cancer in Chinese Population.

Objective: To explore the association of functional single-nucleotide polymorphisms (SNPs) of CD133 with the risk of lung cancer.

Methods: We conducted a hospital-based, case-control study of 1017 lung cancer patients and 1035 cancer-free controls frequency-matched by age and sex. Four functional CD133 SNPs (rs2240688 A > C, rs10022537 T > A, rs7686732 C > G, and rs3130 C > T) were selected and genotyped. Unconditional univariate and multivariate logistic regression analyses were carried out to evaluate the associations of genotypes of CD133 SNPs with lung cancer risk.

Results: Compared with rs2240688 AA genotype, the variant AC/CC genotypes were associated with a statistically increased risk of lung cancer under a recessive model (adjusted odds ratio 1.19; 95 % confidence interval 1.01-1.42). The risk remained in patients with other histology types, but not with adenocarcinoma and squamous cell cancers.

Conclusions: These findings suggest that SNP rs2240688 A > C of CD133 may be a potential biomarker for genetic susceptibility to lung cancer, but require further research with larger populations.