| Summary: | <p>Abstract</p> <p>Objective</p> <p>One of the important proteins involved in lipid metabolism is the ATP-binding cassette transporter A1 (ABCA1) encoding by <it>ABCA1 gene</it>. In this study we evaluated the single nucleotide polymorphisms (SNPs) of <it>ABCA1 gene.</it> We analyzed SNPs in chromosome 9 such as <it>rs2230806 (R219K)</it> in the position 107620867<it>, rs2230808 (R1587K)</it> in the position 106602625 and <it>rs4149313 (I883M</it>) in the position 106626574 according to gender and lipid profile of Greek nurses.</p> <p>Methods</p> <p>The study population consisted of 447 (87 men) unrelated nurses who were genotyped for <it>ABCA1 gene</it> polymorphisms. Additionally, lipid profile [total cholesterol, triglycerides, high density lipoprotein cholesterol, low density lipoprotein cholesterol (LDL-C) and apolipoprotein A1] was evaluated.</p> <p>Results</p> <p>The distribution of all three studied <it>ABCA1 gene</it> polymorphisms did not differ according to gender. However, only <it>R219K genotype</it> distribution bared borderline statistical significance (p = 0.08) between the two studied groups. Moreover, allele frequencies of <it>R219K, R1587K</it> and <it>I88M</it> polymorphisms did not differ according to gender. In general, blood lipid levels did not seem to vary according to <it>ABCA1 gene</it> polymorphisms, when testing all subjects or when testing only men or only women. However, a significant difference of LDL-C distribution was detected in all subjects according to <it>R1587K genotype</it>, indicating lower LDL-C levels with KK polymorphism (p = 0.0025). The above difference was solely detected on female population (p = 0.0053).</p> <p>Conclusions</p> <p>The <it>ABCA1 gene</it> polymorphisms frequency, distribution and lipid profile did not differ according to gender. However, in the female population the KK genotype of <it>R1587K gene</it> indicated lower LDL-C levels. Further studies, involving a higher number of individuals, are required to clarify genes and gender contribution.</p>
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