Al-Jameil Noura, Hassan Amina A, Buhairan Ahlam, Hassanato Rana, Isac Sree R, Al-Otaiby Maram, Al-Maarik Basmah, Al-Ajeyan Iman
Collage of Applied Medical Sciences, Clinical Laboratories Department, King Saud University King Khalid University, Hospital, Riyadh, KSA.
Medicine (Baltimore). 2017 Feb;96(6):e6071. doi: 10.1097/MD.0000000000006071.
The acute phase protein alpha-1 antitrypsin (AAT) is mainly produced in liver cells. AAT deficiency affects the lungs and liver. We conducted a case-control study to define a valuable method for the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association of liver cirrhosis with AATD in Saudi adults.Blood samples from 300 liver cirrhosis patients and 400 controls were analyzed according to serum AAT concentration, phenotyping, and genotyping. Nephelometry was used for AAT quantification, isoelectric focusing electrophoresis was used for phenotyping detection, and real-time PCR was used for genotyping to determine the Z and S deficiency alleles.This study highlights the accuracy of using genotyping in addition to AAT quantification, since this technique has proven to be successful in the diagnosis of AATD for 100% of our cases. A significant deviation in AAT genotypes frequencies from the Hardy-Weinberg equilibrium in the adult cirrhosis group occurred due to a higher observed frequency than expected for the Pi ZZ homozygous genotype.Pi ZZ in adults may be considered as the risk factor for liver cirrhosis. However, we could not establish this relationship for heterozygous AATD genotypes (such as Pi MZ and Pi SZ).
急性期蛋白α-1抗胰蛋白酶（AAT）主要在肝细胞中产生。AAT缺乏会影响肺和肝脏。我们进行了一项病例对照研究，以确定一种用于正确诊断α-1抗胰蛋白酶缺乏症（AATD）的有价值方法，以及沙特成年人中肝硬化与AATD的关联。根据血清AAT浓度、表型分析和基因分型，对300例肝硬化患者和400例对照的血样进行了分析。采用散射比浊法进行AAT定量，等电聚焦电泳用于表型检测，实时聚合酶链反应用于基因分型以确定Z和S缺乏等位基因。本研究强调了除AAT定量外使用基因分型的准确性，因为该技术已被证明在我们100%的病例中成功诊断AATD。由于成人肝硬化组中Pi ZZ纯合基因型的观察频率高于预期，AAT基因型频率与哈迪-温伯格平衡存在显著偏差。成人中的Pi ZZ可能被视为肝硬化的危险因素。然而，我们无法确定杂合AATD基因型（如Pi MZ和Pi SZ）的这种关系。
