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Int J Mol Epidemiol Genet 2010;1(1):11-18.

Original Article
Candidate variants at 6p21.33 and 6p22.1 and risk of non‐small cell lung
cancer in a Chinese population

Mingfeng Zhang, Yongqian Shu, Lin Xu, Xinen Huang, Guangfu Jin, Tian Tian, Zhibin Hu, Hongbing Shen

Department of Epidemiology and Biostatistics, Cancer Center, Nanjing Medical University, Nanjing 210029, China; Department
of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; Department of Thoracic Surgery,
Jiangsu Cancer Hospital, Nanjing, China;

Received June 17, 2009; accepted July, 2009; available online July, 2009

Abstract: Chromosome 6p21.33, containing BAT3 and MSH5 genes, together with chromosome 6p22.1 were recently
identified as susceptible regions for lung cancer in Caucasian populations. These findings interest us in assessing whether
genetic variants in these regions also contribute to lung caner risk in a Chinese population. We genotyped the most significant
single nucleotide polymorphism (SNP) (rs9295740) reported in Caucasian populations at Chromosome 6p22.1 and one
common potentially functional variant (rs2075789) located at exon 2 of MSH5 in a case‐control study including 1009
histologically confirmed non‐small cell lung cancer (NSCLC) cases and 1127 cancer‐free controls in a Chinese population.
We found that the distributions of genotypes of both SNPs between cases and controls were not significantly different (P =
0.624 for rs9295740 and P = 0.937 for rs2075789). Logistic regression analyses revealed neither of the two SNPs was
significantly associated with altered risk of NSCLC in dominant or recessive genetic models. When we compared the
combined variant genotypes (GA+AA) with the common homozygote GG, assuming a dominant genetic model, the adjusted
ORs were 1.03 (95% CI = 0.86‐1.25) for rs9295740 and 1.03 (95% CI = 0.85‐1.25) for rs2075789. In addition, no significant
associations were observed in subgroups stratified by age, gender, smoking status or histologic types. Our results indicate
that the most significant SNP rs9295740 identified in Caucasians in 6p22.1 and the potentially functional SNP rs2075789 in
6p21.33, seem not applicable to Chinese population as susceptible markers for lung cancer. Re‐sequencing and fine‐
mapping this region, along with extensive functional evaluations, are required.(IJMEG906001).

Key words: Polymorphism; lung cancer; 6p21.33; 6p22.1; MSH5

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Address all correspondence to:
Hongbing Shen, PhD
Department of Epidemiology and Biostatistics
Cancer Center, Nanjing Medical University
140 Hanzhong Rd.
Nanjing 210029, China
Tel. (Fax.): 86‐25‐8686‐2756