Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
The Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
BMC Pregnancy Childbirth. 2021 Nov 22;21(1):787. doi: 10.1186/s12884-021-04242-1.
Xeroderma pigmentosum complementation group C (XPC) is a DNA damage recognition protein that plays an important role in nucleotide excision repair and can reduce oxidative stress, which may be involved in the development of preeclampsia (PE). Therefore, the aim of this study was to explore whether XPC polymorphisms were relevant to the genetic susceptibility to PE in Chinese Han women.
A total of 1276 healthy pregnant women were included as the control group and 958 pregnant women with PE as the case group. DNA was extracted from peripheral blood samples to perform genotyping of loci rs2228001 and rs2228000 in XPC through real-time quantitative polymerase chain reaction (PCR). The relationship between XPC and susceptibility to PE was evaluated by comparing the genotypic and allelic frequencies between the two groups of pregnant women.
Polymorphism of rs2228000 may be associated with PE risk and allele T may play a protective role (genotype, χ2 = 38.961, P < 0.001 and allele χ2 = 21.746 P < 0.001, odds ratio (OR) = 0.885, 95% confidence interval (CI) = 0.840-0.932). No significant difference was found between the two groups in rs2228001,(genotype χ2 = 3.148, P = 0.207 and allele χ2 = 0.59, P = 0.442, OR = 1.017, 95% CI = 0.974-1.062). When the frequencies of genotypes and alleles for early- and late-onset PE, mild PE and severe PE were compared with those of controls, the results were consistent with the large clinical sample.
Our data suggest that the genetic variant rs2228000 in XPC may be associated with PE risk in Chinese Han women, and that pregnant women with the TT genotype have a reduced risk of PE. Further investigations are needed to confirm these findings in other regions or larger prospective populations.
着色性干皮病互补组 C（XPC）是一种 DNA 损伤识别蛋白，在核苷酸切除修复中发挥重要作用，可减轻氧化应激，这可能与子痫前期（PE）的发生有关。因此，本研究旨在探讨 XPC 多态性是否与中国汉族妇女患 PE 的遗传易感性相关。
选取 1276 例健康孕妇作为对照组，958 例 PE 孕妇作为病例组，抽取外周血提取 DNA，采用实时荧光定量聚合酶链反应（PCR）对 XPC 基因 rs2228001 和 rs2228000 位点进行基因分型。比较两组孕妇的基因型和等位基因频率，评价 XPC 与 PE 易感性的关系。
rs2228000 多态性可能与 PE 发病风险相关，等位基因 T 可能起保护作用（基因型，χ2=38.961，P<0.001；等位基因 χ2=21.746，P<0.001，比值比（OR）=0.885，95%置信区间（CI）=0.840-0.932）。rs2228001 两组间差异无统计学意义（基因型 χ2=3.148，P=0.207；等位基因 χ2=0.59，P=0.442，OR=1.017，95%CI=0.974-1.062）。比较早发型和晚发型 PE、轻度 PE 和重度 PE 患者与对照组的基因型和等位基因频率，结果与大样本临床数据一致。
本研究数据提示 XPC 基因 rs2228000 遗传变异可能与中国汉族妇女 PE 发病风险相关，TT 基因型孕妇发生 PE 的风险降低。还需要在其他地区或更大的前瞻性人群中进一步验证这些发现。
