葡萄糖-6-磷酸脱氢酶的分子特征：单核苷酸多态性是否会影响HIV阳性患者的血液学参数？
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?
作者信息
Danquah Kwabena Owusu, Mensah Kofi, Nkansah Charles, Appiah Samuel Kwasi, Noagbe Mark, Hardy Yasmine, Ntiamoah David O, Boateng Lillian Antwi, Annani-Akollor Max Efui, Owiredu Eddie-Williams, Debrah Alexander Yaw, Addai-Mensah Otchere
机构信息
Department of Medical Diagnostics, Faculty of Allied Health Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.
Department of Haematology, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
出版信息
J Trop Med. 2020 Aug 1;2020:5194287. doi: 10.1155/2020/5194287. eCollection 2020.
This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency and the 376A ⟶ G, 202G ⟶ A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine how the SNPs affect haematological profile in HIV. A total of 200 HIV-positive Ghanaians were recruited. Venous blood samples were obtained and complete blood count, and G6PD screening and genotyping for the 376A ⟶ G, 202G ⟶ A SNPs were performed. Out of the 200 participants, 13.0% (26/200) were G6PD-deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A ⟶ G only (enzyme activity (EA): 1.19 U/g Hb), 202G ⟶A only (EA: 1.41 U/g Hb), and G202/A376 SNPs (EA: 1.14 U/g Hb), respectively. Having the 376A ⟶ G mutation was associated not only with lower red blood cell (RBC) count (3.38 × 10/L (3.16-3.46) vs 3.95 × 10/L (3.53-4.41), = 0.010) but also with higher mean cell volume (MCV) (102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), = 0.041) and mean cell haemoglobin (MCH) (33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), = 0.038), whereas possessing the 202G ⟶ A mutation was associated with higher MCV only (98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), = 0.041) compared to G6PD nondeficient participants. The prevalence of G6PD deficiency among HIV patients in Kumasi, Ghana, is 13.0% prevalence, comprising 1.5% and 11.5% partial and full enzyme defect, respectively, based on the methemoglobin reductase technique among HIV patients in Ghana. Among G6PD-deficient HIV patients, the prevalence of G202/A376 SNPs is 19.2%. The 376A ⟶ G mutation is associated not only with lower RBC count but also with higher MCV and MCH, whereas the 202G ⟶ A mutation is associated with higher MCV compared to the normal G6PD population.
这项描述性横断面研究旨在评估加纳一家教学医院接受治疗的艾滋病毒患者中葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的患病率以及376A→G、202G→A单核苷酸多态性（SNP），并确定这些SNP如何影响艾滋病毒患者的血液学特征。总共招募了200名加纳艾滋病毒阳性患者。采集静脉血样本，进行全血细胞计数、G6PD筛查以及376A→G、202G→A SNP的基因分型。在200名参与者中，基于高铁血红蛋白还原酶技术，13.0%（26/200）为G6PD缺乏症患者，其中1.5%（3/200）和11.5%（23/200）分别表现为部分酶缺陷和完全酶缺陷。在13.0%的G6PD缺乏症参与者中，19.2%（5/26）、30.8%（8/26）和19.2%（5/26）仅表现为376A→G（酶活性（EA）：1.19 U/g Hb）、仅表现为202G→A（EA：1.41 U/g Hb）以及G202/A376 SNP（EA：1.14 U/g Hb）。携带376A→G突变不仅与较低的红细胞（RBC）计数相关（3.38×10/L（3.16 - 3.46）对3.95×10/L（3.53 - 4.41），P = 0.010），还与较高的平均红细胞体积（MCV）相关（102.90（99.40 - 113.0）对91.10 fL（84.65 - 98.98），P = 0.041）以及平均红细胞血红蛋白（MCH）相关（33.70 pg（32.70 - 38.50）对30.75 pg（28.50 - 33.35），P = 0.038），而与G6PD非缺乏参与者相比，携带202G→A突变仅与较高的MCV相关（98.90 fL（90.95 - 102.35）对91.10 fL（84.65 - 98.98），P = 0.041）。基于加纳艾滋病毒患者中的高铁血红蛋白还原酶技术，加纳库马西艾滋病毒患者中G6PD缺乏症的患病率为13.0%，分别包括1.5%和11.5%的部分酶缺陷和完全酶缺陷。在G6PD缺乏的艾滋病毒患者中，G202/A376 SNP的患病率为19.2%。376A→G突变不仅与较低的RBC计数相关，还与较高的MCV和MCH相关，而与正常G6PD人群相比，202G→A突变与较高的MCV相关。
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