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目的探讨钙腔蛋白(CALU,rs2290228)基因型在中国汉族人群中的分布情况及其基因多态性与瓣膜置换术后华法林稳定剂量的关系。方法采用Snapshot技术检测226例研究对象CALU(rs2290228)位点基因型,研究其基因型及等位基因频率;比较其中176例行瓣膜置换术后抗凝稳态患者基因多态性与华法林稳定剂量的关系。结果 226例中CALU(rs2290228)位点基因型TT、CT和CC分别为2例(0.9%)、88例(38.9%)和136例(60.2%),T和C等位基因的频率分别为20.4%和79.6%;176例服用华法林达稳定状态患者,华法林日维持剂量为TT型(2.75±0.35)mg/d,CT型(3.37±0.81)mg/d,CC型(3.14±0.89)mg/d;3种基因型华法林日维持剂量、凝血酶原时间和抗凝强度预设国际标准化比值组间比较差异无统计学意义(P>0.05)。结论中国汉族人群CALU(rs2290228)基因多态性可能不是瓣膜置换术后华法林个体剂量差异的影响因素。
Objective To investigate the distribution of CALU (rs2290228) gene in Chinese Han population and its relationship with the warfarin dose after valvular replacement. Methods 226 cases of CALU (rs2290228) locus genotypes were studied by Snapshot technique to investigate the genotypes and allele frequencies of 176 patients with anticoagulant homeostasis after valvular replacement. Stable dose relationship. Results The frequencies of TT, CT and CC in CALU (rs2290228) locus in 226 cases were 0.9%, 88 cases (38.9%) and 136 cases (60.2%) respectively. The frequencies of T and C alleles were 20.4%, and 79.6% respectively. The warfarin daily maintenance doses were TT (2.75 ± 0.35) mg / d, CT (3.37 ± 0.81) mg / d and CC ± 0.89) mg / d. The warfarin daily maintenance dose, prothrombin time and anticoagulant strength of the three genotypes had no significant difference between the international standardization groups (P> 0.05). Conclusions The genetic polymorphism of CALU (rs2290228) in Chinese Han population may not be the influencing factor for the difference of individual dose of warfarin after valvular replacement.