title: Association between apolipoprotein ε4 allele, factor V Leiden, and plasma lipid and lipoprotein levels with sickle cell disease in Southern Iran.
abstract: To investigate whether there is any association between various APOE alleles and factor V Leiden (FVL) with lipid profiles and sickle cell disease (SCD) in Southern Iran. 65 SCD patients consisting of 35 sickle cell anemia homozygous (SS), 15 sickle cell heterozygous (AS) and 15 sickle cell/βThalassemia (S/βthal) patients and 68 healthy individuals with normal hematological indices were studied. APOE and FVL polymorphisms were detected by PCR-RFLP and serum lipid level was measured enzymatically. The frequencies of FVL and APOE-ε4 allele were significantly higher in SCD patients than in control (15.4 vs. 4.4 and 13.7% vs. 3.3%, respectively). The distributions of APOE ε3ε3, ε2ε3 and ε2ε4 + ε3ε4 alleles in SCD patients were significantly different from those in the control group. The SCD subjects particularly SS/S βthal (SS + S/βthal) and SS patients have significantly lower frequency of APOE ε3ε3 allele (P < 0.05) whereas SCD, SS patients and AS individuals have a significantly higher frequency of APOE ε4 allele (ε2ε4 + ε3ε4; P = 0.003, P = 0.011 and P = 0.035, respectively) compared to the control group. The LDL-C (P = 0.006) and total cholesterol (P < 0.001) levels in SCD subjects were found to be significantly lower than those in the control group. In addition, the presence of non-APOE ε4 allele (ε2ε3 + ε3ε3) resulted in a significant decrease in the level of LDL-C and total cholesterol in SCD subjects in general and in SS and SS/S βthal patients in particular compared to controls. Furthermore, the presence of APOE ε4 allele (ε2ε4 + ε3ε4) was found to be associated with the risk of sickle cell anemia [OR = 4.1, P = 0.04]. The presence of either FVL mutation (OR = 4.6; CI: 0.91-24, P = 0.07) or APOE-ε4 allele (OR = 4.07; CI: 1.01-16.4, P = 0.048) is associated with the risk of sickle cell disease in Southern Iran. This data suggest that the activation of coagulation system enhances thrombus generation and decreases antioxidant activity in SCD patients from Southern Iran.
authors.affiliation: Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Rahimi
authors.forename: Asad
authors.initials: A
authors.lastname: Vaisi-Raygani
authors.forename: Tayebeh
authors.initials: T
authors.lastname: Pourmotabbed
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000208:ethnology* / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008055:Lipids / Q000097:blood*; D008074:Lipoproteins / Q000097:blood* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D053327:Apolipoprotein E4; D008055:Lipids; D008074:Lipoproteins; C095381:factor V Leiden; D005165:Factor V