Haplotype analysis of RECQL5 gene and laryngeal cancer

Abstract

RECQL is a DNA helicase involved in DNA mismatch repair. Previous studies indicated that the RECQL gene mutation was associated with human cancers. In the present study, we investigated the association between polymorphisms of RECQL gene and laryngeal cancer in a Chinese population. Four polymorphisms of the RECQL5 gene (rs820186, rs820196, rs820200, and rs4789223) were genotyped by the TaqMan method in 275 patients with larynx cancer and 300 age- and sex-matched non-cancer controls. We found that rs820196 polymorphism of RECQL5 was associated with larynx cancer, the CC genotype (16.4% vs 9.3%, P = 0.013) and C allele (42% vs 34.2%, P = 0.006) was common in larynx cancer patients than in the control subjects, respectively. Haplotype analysis showed that GCGA (OR = 18.955, 95% confidence interval (CI) 9.479 ~ 37.905; P < 0.001) and GTTG (OR = 1.684; 95% CI 1.327 ~ 2.137; P < 0.001) were associated with increased risk for larynx cancer. However, ACGA (OR = 0.605; 95% CI 0.430 ~ 0.852; P = 0.003), GCGG (OR = 0.636; 95% CI 0.411 ~ 0.982; P = 0.039), and GTGG (OR = 0.194; 95% CI 0.104 ~ 0.361; P < 0.001) were associated with decreased risk for larynx cancer. The present study indicated that RECQL5 genetic polymorphism and haplotypes were associated with larynx cancer in a Chinese population.

Association between RECQL5 genetic polymorphisms and susceptibility to breast cancer

“…Recent publications indicated that the genetic polymorphisms of RECQL5 are associated with human cancer, such as laryngeal cancer [17] and osteosarcoma [16]. Zhi et al [16] explored the relation between osteosarcoma risk and RECQL5 polymorphism and found that the CC genotype in rs820196 (17.5 vs 8.3 %, P=0.005) and AA genotype in rs4789223 (21.7 vs 14.2 %, P<0.001) were more frequent in the osteosarcoma group compared to the control group, respectively.…”

“…Zhi et al [16] explored the relation between osteosarcoma risk and RECQL5 polymorphism and found that the CC genotype in rs820196 (17.5 vs 8.3 %, P=0.005) and AA genotype in rs4789223 (21.7 vs 14.2 %, P<0.001) were more frequent in the osteosarcoma group compared to the control group, respectively. Qi et al [17] studied the association between laryngeal cancer risk and RECQL5 polymorphisms and found that the rs820196 polymorphism of RECQL5 was associated with larynx cancer; the CC genotype (16.4 vs 9.3 %, P=0.013) and C allele (42 vs 34.2 %, P=0.006) were common in larynx cancer patients than in the control subjects, respectively. However, rs4789223 was not found to be associated with larynx cancer in Qi et al's study.…”

“…According to the previous studies [16,17], we selected four tagging single nucleotide polymorphisms (SNPs) (rs820186, rs820196, rs820200, and rs4789223) for the present study. Genomic DNA was extracted from the peripheral blood leukocytes using a DNA extraction kit (Beijing Bioteke Co. Ltd).…”

“…Genomic DNA was extracted from the peripheral blood leukocytes using a DNA extraction kit (Beijing Bioteke Co. Ltd). Genotyping was confirmed by the TaqMan method as described previously [16,17].…”

“…Previous studies indicated that the mutation in RECQL family gene was associated with human cancer [12,14,15]. And RECQL5 haplotype was reported to be associated with osteosarcoma [16] and laryngeal cancer [17] previously. However, the relation between RECQL5 polymorphism and breast cancer remains unknown.…”