Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.
Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.
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DOI：
10.1007/s11033-014-3824-z
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发表时间：
2015-03
影响因子：
2.8
通讯作者：
Dębniak T
中科院分区：
文献类型：
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作者：
Paszkowska-Szczur K;Scott RJ;Górski B;Cybulski C;Kurzawski G;Dymerska D;Gupta S;van de Wetering T;Masojć B;Kashyap A;Gapska P;Gromowski T;Kładny J;Lubiński J;Dębniak T
着色性干皮病（XP）是一种罕见的常染色体隐性遗传疾病，与核苷酸切除修复严重缺陷有关。XP基因的遗传多态性可能与DNA修复能力的改变有关，而DNA修复能力的改变可能与结直肠癌的发生有关。我们评估了波兰人群中7个XP基因（XPA-XPG）内的94个单核苷酸多态性（SNP）与结直肠癌风险之间的关联。我们对758名未经选择的结直肠癌患者和1，841名健康成年人进行了基因分型。我们发现，与参考基因型（CC）相比，XPC多态性rs2228000_CT基因型（OR 0.59; p < 0.0001）和rs2228000_TT基因型（OR 0.29; p < 0.0001）显著降低结直肠癌的风险。与参考基因型相比，XPD SNP rs1799793_AG基因型（OR 1.44，p = 0.018）和rs1799793_AA基因型（OR 3.31，p < 0.0001）与疾病风险增加相关。XPC、XPD和XPG内的单倍型分析揭示了与改变的结直肠癌风险相关的单倍型。按性别分层分析显示，三个SNP之间的关联：XPC rs 2228000，XPD rs 1799793和XPD rs 238406在女性和男性之间存在差异。发病年龄与XPD（rs 1799793）和XPC（rs 2228000）多态性之间的关联分析显示，这些变异在50岁以下和50岁以上患者中的患病率存在差异。我们的研究结果证实，XPC和XPD的多态性可能与结直肠癌的风险。
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. Genetic polymorphisms in XP genes may be associated with a change in DNA repair capacity, which could be associated with colorectal cancer development. We assessed the association between 94 single nucleotide polymorphisms (SNPs) within seven XP genes (XPA–XPG) and the colorectal cancer risk in the Polish population. We genotyped 758 unselected patients with colorectal cancer and 1,841 healthy adults. We found that a significantly decreased risk of colorectal cancer was associated with XPC polymorphism rs2228000_CT genotype (OR 0.59; p < 0.0001) and the rs2228000_TT genotype (OR 0.29; p < 0.0001) compared to the reference genotype (CC). And an increased disease risk was associated with the XPD SNP, rs1799793_AG genotype (OR 1.44, p = 0.018) and rs1799793_AA genotype (OR 3.31, p < 0.0001) compared to the reference genotype. Haplotype analysis within XPC, XPD and XPG revealed haplotypes associated with an altered colorectal cancer risk. Stratified analysis by gender showed differences between the association of three SNPs: XPC rs2228000, XPD rs1799793 and XPD rs238406 in females and males. Association analysis between age of disease onset and polymorphisms in XPD (rs1799793) and XPC (rs2228000) revealed differences in the prevalence of these variants in patients under and over 50 years of age. Our results confirmed that polymorphisms in XPC and XPD may be associated with the risk of colorectal cancer.
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影响因子：
158.5
作者：
LEPPERT, M;BURT, R;WHITE, R
通讯作者：
WHITE, R
影响因子：
2.2
作者：
Sliwinski, Tomasz;Krupa, Renata;Blasiak, Janusz
通讯作者：
Blasiak, Janusz
影响因子：
3.8
作者：
Berndt, Sonja I.;Platz, Elizabeth A.;Helzlsouer, Kathy J.
通讯作者：
Helzlsouer, Kathy J.
影响因子：
254.7
作者：
Siegel, Rebecca;Naishadham, Deepa;Jemal, Ahmedin
通讯作者：
Jemal, Ahmedin
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影响因子：
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作者：
通讯作者：
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