Bazrgar Masood, Karimi Mehran, Fathzadeh Mohsen, Senemar Sara, Peiravian Farah, Shojaee Ashraf, Saadat Mostafa
Human Genetic Research Group, Iranian Academic Center for Education, Culture & Research, Fars Province Branch, Zand Ave., P.O. Box: 71345-1463, Shiraz, Iran.
Mol Biol Rep. 2008 Dec;35(4):495-9. doi: 10.1007/s11033-007-9113-3. Epub 2007 Jun 27.
Apolipoprotein E (apoE) with three major alleles E2, E3 and E4 is one of the critical genes in lipid metabolism. Common apoE alleles are in association with an increase in risk for central nervous and cardiovascular diseases such as Alzheimer's disease, dementia, multiple sclerosis, atherosclerosis, coronary heart disease, hyperlipoproteinemia and stroke. ApoE3 is known as the most frequent allele in all populations, while association of apoE gene polymorphism with reported diseases have mostly been related to other two major alleles especially apoE4.
To determine of apoE alleles frequencies in Southern Iran and comparison of those frequencies with other populations.
DNA was extracted from the whole blood of 198 healthy unrelated candidates from population of Fars Province, Southern Iran, for apoE genotyping who were checked up by a physician. The frequencies of apoE alleles were compared with other populations by chi(2) test.
The frequencies of E2, E3 and E4 were 0.063, 0.886 and 0.051 respectively. These values were similar to those reported from populations of Kuwait, Oman, Lebanon, India, Turkey, Greece, Spain, Sardinia Islands of Italy and two Iranian populations but were different from South of Italy and Caucasians in other Europe regions, American, American-Indian, African, East Asian and Saudi populations (P < 0.05).
The frequency of E4 allele as a genetic risk factor for some multifactorial diseases in the population of Southern Iran is in the lowest reported amounts in the world. Iranian population has Caucasoid origin but differs from some Caucasian populations in Europe and America. The results of present study are in agreement with the historical evidences which show admixture of Iranian population with other populations and some studies based on genetic polymorphisms in the population of Southern Iran.
载脂蛋白E（apoE）有E2、E3和E4三个主要等位基因，是脂质代谢中的关键基因之一。常见的apoE等位基因与中枢神经和心血管疾病风险增加有关，如阿尔茨海默病、痴呆、多发性硬化症、动脉粥样硬化、冠心病、高脂蛋白血症和中风。ApoE3是所有人群中最常见的等位基因，而apoE基因多态性与所报道疾病的关联大多与其他两个主要等位基因尤其是apoE4有关。
确定伊朗南部人群中apoE等位基因频率，并将这些频率与其他人群进行比较。
从伊朗南部法尔斯省198名经医生检查的健康无亲缘关系的候选者全血中提取DNA，进行apoE基因分型。通过卡方检验将apoE等位基因频率与其他人群进行比较。
E2、E3和E4的频率分别为0.063、0.886和0.051。这些值与科威特、阿曼、黎巴嫩、印度、土耳其、希腊、西班牙、意大利撒丁岛人群以及两个伊朗人群报道的值相似，但与意大利南部人群以及欧洲其他地区、美洲、美洲印第安人、非洲、东亚和沙特人群不同（P<0.05）。
作为一些多因素疾病遗传风险因素的E4等位基因在伊朗南部人群中的频率处于世界报道的最低水平。伊朗人群起源于高加索人种，但与欧洲和美洲的一些高加索人群不同。本研究结果与伊朗人群与其他人群混合的历史证据以及基于伊朗南部人群基因多态性的一些研究结果一致。
