Erčulj Nina, Zadel Maja, Dolžan Vita
Acta Chim Slov. 2010 Mar;57(1):182-8.
Genetic polymorphisms in DNA repair genes may result in altered DNA damage. The aim of our study was to determine the frequencies of common functional single nucleotide polymorphisms (SNPs) in specific base-excision DNA repair (BER) genes in healthy Slovenian population and evaluate their influence on DNA damage established by comet assay. In total 141 unrelated healthy subjects were genotyped for hOGG1 Ser326Cys, XRCC1 Arg194Trp and Arg399Gln polymorphisms by real-time TaqMan assay. The frequencies of the hOGG1 326Ser/Ser, 326Ser/Cys and 326Cys/Cys genotypes were 63.8, 29.8, and 6.4%, respectively. The frequency distribution of XRCC1 polymorphism was 88.7% for 194Arg/Arg, 9.2% for 194Arg/Trp, 2.1% for 194Trp/Trp and 46.8% for 399Arg/Arg 40.4% for 399Arg/Gln, 12.8% for 399Gln/Gln. The influence of selected BER polymorphisms on the percentage of comet tail DNA (% TD) was determined in a subgroup of 26 subjects. We found that% TD was significantly increased among individuals with hOGG1 326Ser/Cys heterozygous variant genotype as compared to 326Ser/Ser wild-type genotype (% TD = 8.9 ± 4.2 vs. % TD = 6.9 ± 1.4, P = 0.017). No significant associations between XRCC1 Arg194Trp and Arg399Gln polymorphisms and% TD were found. Our results confirmed that DNA damage is modulated by hOGG1 Ser326Cys polymorphism.
DNA修复基因中的遗传多态性可能导致DNA损伤改变。我们研究的目的是确定斯洛文尼亚健康人群中特定碱基切除DNA修复（BER）基因常见功能性单核苷酸多态性（SNP）的频率，并评估它们对彗星试验所确定的DNA损伤的影响。通过实时TaqMan分析对总共141名无亲缘关系的健康受试者进行了hOGG1 Ser326Cys、XRCC1 Arg194Trp和Arg399Gln多态性的基因分型。hOGG1 326Ser/Ser、326Ser/Cys和326Cys/Cys基因型的频率分别为63.8%、29.8%和6.4%。XRCC1多态性的频率分布为：194Arg/Arg为88.7%，194Arg/Trp为9.2%，194Trp/Trp为2.1%；399Arg/Arg为46.8%，399Arg/Gln为40.4%，399Gln/Gln为12.8%。在26名受试者的亚组中确定了所选BER多态性对彗星尾DNA百分比（%TD）的影响。我们发现，与326Ser/Ser野生型基因型相比，hOGG1 326Ser/Cys杂合变异基因型个体的%TD显著增加（%TD = 8.9 ± 4.2 vs. %TD = 6.9 ± 1.4，P = 0.017）。未发现XRCC1 Arg194Trp和Arg399Gln多态性与%TD之间存在显著关联。我们的结果证实，DNA损伤受hOGG1 Ser326Cys多态性的调节。
