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首页> 外文期刊>Journal of paediatrics and child health >Associations between G6PD G6PD , OATP1B1 OATP1B1 and BLVRA BLVRA variants and susceptibility to neonatal hyperbilirubinaemia in a Chinese Han population
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Associations between G6PD G6PD , OATP1B1 OATP1B1 and BLVRA BLVRA variants and susceptibility to neonatal hyperbilirubinaemia in a Chinese Han population

机译：G6PD G6PD，OATP1B1 oATP1B1和BLVRA BLVRA变体和对新生儿高胆管血症的遗传症之间的关联在中国汉族人群中的易感性

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Aim Hyperbilirubinaemia is a common disorder in newborns. The aim of this study was to investigate the associations between G6PD 1388 GA, SLCO1B1 rs4149056 and BLVRA rs699512 variants and the risk of neonatal hyperbilirubinaemia in a Chinese neonate population. Methods A total of 447 Chinese neonates with hyperbilirubinaemia were selected as the study group and 544 healthy subjects were recruited as the control group matched by baseline sex, age, feeding pattern and delivery mode. About 2 mL of peripheral venous blood was taken from all subjects. The single nucleotide polymorphisms (SNPs) of G6PD 1388 GA, SLCO1B1 rs4149056 and BLVRA rs699512 loci were examined by the polymerase chain reaction and Sanger sequencing technique in the peripheral blood of all subjects. Results For the G6PD 1388 GA SNP, individuals carrying the A‐allele were associated with a significantly increased risk of neonatal hyperbilirubinaemia (adjusted odds ratio (OR)?=?1.49, P? 0.001, 95% confidence interval (CI): 1.31–1.67). This risk increased significantly in the CC genotype carriers at the rs4149056 locus of the SLCO1B1 gene (OR?=?2.17, 95% CI: 1.87–2.33), whereas it decreased significantly in individuals carrying the G‐allele at the rs699512 locus of the BLVRA gene (adjusted OR?=?0.84, P?= 0.01, 95% CI: 0.75–0.95). The G6PD 1388 GA, SLCO1B1 rs4149056 and BLVRA rs699512 SNPs had a significant impact on serum total bilirubin levels. Moreover, individuals carrying the A‐allele of G6PD 1388 GA and BLVRA rs699512 had a significantly increased risk of developing neonatal hyperbilirubinaemia (OR?=?5.01, P? 0.001, 95% CI: 3.42–7.85). Conclusion Genetic variants of bilirubin metabolism genes, including G6PD 1388 GA, SLCO1B1 rs4149056 and BLVRA rs699512, are associated with the risk of neonatal hyperbilirubinaemia, and are potential markers for predicting the disorder.
机译：目标Hyperbilirubina血症是新生儿的常见疾病。本研究的目的是调查G6PD 1388 G＆Gt; A，SLCO1B1 RS4149056和BLVRA RS699512变体和新生儿血液血症的风险，以及中国新生儿人群的风险。方法共选出447例中国新生儿的血红蛋白血症，作为研究组，招募了544名健康受试者，作为基线性别，年龄，饲养模式和交付模式匹配的对照组。从所有受试者中取出约2毫升外周静脉血液。通过在所有受试者的外周血中，通过聚合酶链反应和Sanger测序技术研究了G6PD 1388g> A，SLCO1B1 RS4149056和BLVRA RS699512基因座的单核苷酸多态性（SNP）。 G6PD 1388g＆gt的结果;携带a-allele的SNP，携带A-allele的个体与新生儿高胆碱血症的风险显着增加（调整后的差距（或）？=Δ1.49，p？<0.001,95％置信区间（CI ）：1.31-1.67）。在SLCO1B1基因的RS4149056（或？= 2.17,95％CI：1.87-2.33）的CC基因型载体中，CC基因型载体中的这种风险显着增加，而在RS699512轨道上携带G-Allele的个体，它在载体的个体中显着降低BLVRA基因（调整或α=？0.84，P？= 0.01,95％CI：0.75-0.95）。 G6PD 1388 G＆GT; A，SLCO1B1 RS4149056和BLVRA RS699512 SNP对血清胆红素水平的显着影响。此外，携带G6PD 1388 G＆Gt的A和Blvra RS699512的个体具有显着增加的发育新生儿高胆管血症的风险（或α=Δ5.01，p≤X..001,95％CI：3.42-7.85）。结论胆红素代谢基因的遗传变异，包括G6PD 1388 G＆GT; A，SLCO1B1 RS4149056和BLVRA RS699512与新生儿高胆管血清血症的风险有关，并且是预测疾病的潜在标志物。

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