Al-Mukaynizi Fatimah Basil, AlKhuriji Afrah, Babay Zaineb, Addar Mohammad, AlDaihan Sooad, Alanazi Mohammad, Warsy Arjumand S
Department of Biochemistry, College of Science, King Saud University, Riyadh, Saudi Arabia.
Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.
J Med Biochem. 2016 Apr;35(2):166-173. doi: 10.1515/jomb-2015-0020. Epub 2016 May 9.
An insertion/deletion (I/D) polymorphism in the angiotensin converting enzyme (ACE) gene has been associated with recurrent miscarriage (RM) in several populations. We initiated this study to determine the association, if any, between the I/D polymorphism of ACE gene and RM in Saudi females.
This study was conducted on 61 Saudi females suffering from RM (mean age: 34.1±6.2 years; range 15-45) attending clinics at King Khalid University Hospital, and 59 age matched females who had at least 2 children, as controls. Blood samples were drawn in EDTA tubes by venipuncture. DNA was extracted using the Puregene DNA purification kits. Insertion/Deletion (I/D) polymorphism of ACE gene was investigated by amplifying the genomic DNA by PCR using gene-specific primers. A single 190 bp or 490 bp band was obtained in the homozygous cases for the D allele or I allele, respectively, while the presence of both 190 and 490 bp bands indicated heterozygosity (ID).
Deviation from Hardy-Weinberg equilibrium was determined (http://ihg.gsf.de/cgi-bin/hw/hwa1.pl). A standard chi-square (χ) test was used for comparing the genotype and allele frequencies in the two groups and Students't' test and χ test were employed to compare values between the two groups. P<0.05 was considered statistically significant.
The frequencies of DD, ID, and II genotypes were 56.7%, 29.5% and 4.9%, respectively, in females with RM and 54.2%, 42.3% and 3.3% respectively in the control group, but the difference was not statistically significant.
In some populations, meta-analyses showed an association between I/D polymorphism and RM risk, and the D allele was implicated as an increased risk factor for RM. However, this association was not apparent in the Saudi females.
血管紧张素转换酶(ACE)基因中的插入/缺失(I/D)多态性已在多个人群中与复发性流产(RM)相关联。我们开展这项研究以确定沙特女性中ACE基因的I/D多态性与RM之间是否存在关联(若有的话)。
本研究对61名在哈利德国王大学医院诊所就诊的患有RM的沙特女性(平均年龄:34.1±6.2岁;范围15 - 45岁)以及59名年龄匹配的至少育有2个孩子的女性作为对照进行。通过静脉穿刺采集置于乙二胺四乙酸(EDTA)管中的血样。使用Puregene DNA纯化试剂盒提取DNA。通过使用基因特异性引物进行聚合酶链反应(PCR)扩增基因组DNA来研究ACE基因的插入/缺失(I/D)多态性。在纯合D等位基因或I等位基因的情况下,分别获得单一的190 bp或490 bp条带,而同时存在190和490 bp条带则表明为杂合性(ID)。
确定是否偏离哈迪 - 温伯格平衡(http://ihg.gsf.de/cgi-bin/hw/hwa1.pl)。使用标准卡方(χ)检验比较两组的基因型和等位基因频率,并采用学生t检验和χ检验比较两组之间的值。P<0.05被认为具有统计学意义。
患有RM的女性中DD、ID和II基因型的频率分别为56.7%、29.5%和4.9%,对照组中分别为54.2%、42.3%和3.3%,但差异无统计学意义。
在一些人群中,荟萃分析显示I/D多态性与RM风险之间存在关联,并且D等位基因被认为是RM的一个风险增加因素。然而,这种关联在沙特女性中并不明显。