Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility

BMC Cancer

Table 2 Primary information for 7 genotyped SNPs in DNA repair genes

Genotyped SNPs	Location/or amino acid change	MAF for Chinese in database^a	Pvalue for HWE test
XRCC3: rs861539 C>T	nsSNP/ T241M	0.067	0.165
XRCC3: rs1799794 G>A	5' UTR	0.478	0.271
XRCC3: rs1799796 A>T	nsSNP/ A17893G	0.289	0.406
BRCA2: rs1799943 G>A	Promoter	0.279	0.722
BRCA2: rs15869 A>C	3' UTR	0.244	0.375
RAG1: rs2227973 G>A	nsSNP/ R820K	0.465	0.586
XRCC5: rs1051685 A>G	3' UTR	0.067	0.808
LIG4: rs1805388 C>T	nsSNP/T9I	0.261	0.659
XRCC4: rs1805377 A>G	Splice Site	0.300	0.454
ATM: rs189037 G>A	Promoter	0.389	0.070

MAF, minor allele frequency; HWE, Hardy-Weinberg equilibrium.
^aMinor allele frequency in the Chinese (CHB, Han Chinese in Beijing, China) population, as reported in dbSNP database.

ISSN: 1471-2407