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首页> 外文期刊>European Journal of Haematology >A cross‐sectional clinic‐based study exploring whether variants within the glutathione S‐transferase glutathione S‐transferase , haptoglobin haptoglobin and uridine 5′‐diphospho‐glucuronosyltransferase 1A1 uridine 5′‐diphospho‐glucuronosyltransferase 1A1 genes are associated with interindividual phenotypic variation in sickle cell anaemia in Jamaica
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A cross‐sectional clinic‐based study exploring whether variants within the glutathione S‐transferase glutathione S‐transferase , haptoglobin haptoglobin and uridine 5′‐diphospho‐glucuronosyltransferase 1A1 uridine 5′‐diphospho‐glucuronosyltransferase 1A1 genes are associated with interindividual phenotypic variation in sickle cell anaemia in Jamaica

机译：基于横断面的临床基础研究探索谷胱甘肽S-转移酶谷胱甘肽S-转移酶，哈帕替洛蛋白哈帕蛋白和尿苷5'-二磷磷酸糖醛糖基三转移酶1A1尿苷5'-二磷磷酸糖基三转移酶1A1基因的变体与镰刀中的中断表型变异有关 牙买加的细胞贫血

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Abstract Objectives To explore putative associations between specific variants in either the glutathione S‐transferase ( GST ), haptoglobin ( HP ) or uridine 5′‐diphospho‐glucuronosyltransferase 1A1 ( UGT 1A1 ) genes and clinically important phenotypes in sickle cell anaemia (Hb SS ). Methods 371 Hb SS participants were recruited from the Sickle Cell Clinic of the Sickle Cell Unit at the University of the West Indies, Kingston, Jamaica. Markers within four GST superfamily genes, the HP gene and the UGT 1A1 gene were analysed using PCR ‐based assays. Results Multivariable regression revealed statistically significant associations between the GSTP 1 Ile105Val heterozygote and HbA 2 levels ( P? = ? .016), HbF percentage ( P? = ? .001), MCH concentration ( P? = ? .028) and reticulocyte count ( P? = ? .032), while the GSTM 3 D/D homozygote was significantly associated with HbA 2 levels ( P? = ? .032). The UGT 1A1 ( TA ) 6 /( TA ) 8 heterozygote showed statistically significant associations with HbA 2 levels ( P? = ? .019), HbF percentage ( P? ? .001), haemoglobin levels ( P? = ? .008), PCV values ( P? = ? .007) and RBC counts ( P? = ? .041). Conclusion This exploratory cross‐sectional study has generated novel and informative genotype‐phenotype estimates of association, but larger studies are needed to determine whether these specific variants within the GST , UGT 1A1 and HP genes are related to interindividual phenotypic variability in Hb SS .
机译：摘要目的，探讨谷胱甘肽S-转移酶（GST），哈达氟胺（HP），β-二磷葡萄糖糖核糖糖基转移酶1A1（UGT 1A1）基因（UGT 1A1）基因（UGT 1A1）基因（HB SS）中的临床重要表型的特定变体之间的推定关联。方法371 HB SS参与者从西Indies大学镰状细胞单位的镰状细胞诊所招募参与者，牙买加金斯敦守金斯通。使用PCR基础的测定分析了四个GST超家族基因内的标记，HP基因和UGT 1A1基因分析。结果多变量的回归揭示了GSTP 1 ILE105杂合子和HBA 2水平之间的统计显着关联（P？=Δ016），HBF百分比（P？=Δ001），MCH浓度（P？=Δ028）和网状细胞计数（p？=Δ032），而GSTM 3D / D纯合术与HBA 2水平显着相关（P？=Δ032）。 UGT 1A1（TA）6 /（TA）8杂合子与HBA 2水平（P？=Δ019），HBF百分比（P≤α001），血红蛋白水平（P？= ??。 008），PCV值（P？=？.007）和RBC计数（P？=？.041）。结论该探索性横截面研究已经产生了新颖的和信息性基因型 - 表型估计，但是需要较大的研究来确定GST，UGT 1A1和HP基因内的这些特异性变体是否与HB SS中的接骨状表型变异有关。

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