Abstract
In this case-control study, we analyzed the association between three single nucleotide polymorphisms (SNPs) in the CASC15 gene (rs6939340 A>G, rs4712653 T>C, and rs9295536 C>A) and neuroblastoma susceptibility in the Guangdong and Henan populations of China. We genotyped and analyzed 118 cases and 281 control subjects from Henan province and combined them with previously published data from the Guangdong population. In the Henan population, only the rs6939340 G>A variant homozygote AA was associated with decreased neuroblastoma risk [AA vs. GG: adjusted odds ratio (OR) = 0.47, 95% confidence interval (CI) = 0.23-0.98; P=0.045]. All three polymorphisms, individually and in combination, were associated with decreased neuroblastoma susceptibility in the Guangdong population. Moreover, subjects carrying 1-3 of these protective genotypes had lower neuroblastoma susceptibility than non-carriers (adjusted OR=0.65, 95% CI=0.51-0.84, P=0.0007). These results show that all three genetic variants of CASC15 identified in a genome-wide association study (GWAS) decrease neuroblastoma risk in two distinct Chinese populations.
Highlights
Neuroblastoma is an embryonal cancer that arises from primordial sympathetic neural precursors in infants [1]
Subjects carrying 1-3 of these protective genotypes had lower neuroblastoma susceptibility than non-carriers. These results show that all three genetic variants of cancer susceptibility candidate 15 (CASC15) identified in a genomewide association study (GWAS) decrease neuroblastoma risk in two distinct Chinese populations
In the current case-control study, we investigated the potential association between CASC15 gene polymorphisms and neuroblastoma risk in two distinct populations from China
Summary
Neuroblastoma is an embryonal cancer that arises from primordial sympathetic neural precursors in infants [1]. The incidence rate of neuroblastoma is about 1 in 7000 in the USA [2] and 7.7 per million in China [3]. Neuroblastoma is the most common solid tumor in childhood and despite marked improvements in its treatment, it still accounts for 15% of the cancer-related mortality in children [4]. Neuroblastoma is characterized by diverse clinical behaviors based on which it is classified into low risk, intermediate risk and high risk groups [5]. High-risk patients have widely disseminated disease at diagnosis and poor survival rates, whereas most of the low-risk patients spontaneously regress without chemotherapy [6, 7]. 50% of the neuroblastoma patients are diagnosed as high-risk and less than 40% of them survive despite intensive therapies [4, 8]. Survivors face lifelong serious co-existing health issues that affect their social life [9]
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