I405V and TaqIB polymorphisms of the cholesteryl ester transfer protein and their relation to serum lipid and lipoprotein levels in a Turkish population

Yazan: admin Tarih: Nis 22nd, 2009 | Kategori:: Kategorilenmemiş

Semra Doru-Abbasolu 1 *, Hande Parldar-Karpuzolu 1, Bilge Depboylu 1, Naci Çine 2, Müjdat Uysal 1, Gülçin Aykaç-Toker 1
1Department of Biochemistry, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
2Department of Medical Genetics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
 
email: Semra Doru-Abbasolu (sdabbasoglu@yahoo.com)

*Correspondence to Semra Doru-Abbasolu, Department of Biochemistry, Istanbul Medical Faculty, Istanbul University, Çapa 34093, Istanbul, Turkey.

Keywords
cholesteryl ester transfer protein (CETP) • genetic polymorphism • TaqIB • I405V
Abstract
Cholesteryl ester transfer protein (CETP) plays a central role in high-density lipoprotein (HDL) metabolism. Genetic polymorphisms of the CETP gene can influence levels of serum lipoproteins. It has been reported that mean HDL-cholesterol (HDL-C) concentrations are low in Turkish population. Thus, we investigated the frequencies of the common I405V and TaqIB polymorphisms of the CETP gene and their relation to serum lipid and lipoprotein levels in a Turkish population. The variant allele frequencies of I405V and TaqIB polymorphisms of the CETP gene were found to be 0.38 and 0.46, respectively and similar to some of the European populations. Subjects for the VV genotype of I405V polymorphism had higher HDL-C levels than did II subjects. The covariance analysis showed that gender and triglyceride (TG) levels have an effect on the association of HDL-C and I405V polymorphism. In conclusion, our results indicate that I405V polymorphism may affect the HDL-C levels in Turkish population. The association of this polymorphism and HDL-C levels could be modified by other factors, such as gender and TG levels. Copyright © 2009 John Wiley & Sons, Ltd.

 

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Received: 6 November 2008; Accepted: 17 November 2008
Digital Object Identifier (DOI)

10.1002/cbf.1536  About DOI


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Yazan: admin Tarih: Ağu 14th, 2008 | Kategori:: Gene polymorphisms, MnSOD

Cell Biochem Funct. 2005 Jan-Feb;23(1):73-6.

Kocabaş NA, Sardaş S, Cholerton S, Daly AK, Elhan AH, Karakaya AE.

Department of Toxicology, University of Gazi, Pharmacy Faculty, Ankara, Turkey. neslihan@gazi.edu.tr

Within mitochondria, manganese superoxide dismutase (MnSOD) provides a major defence against oxidative damage by reactive oxygen species (ROS). An alanine-9valine (Ala-9Val) polymorphism in the mitochondrial targeting sequence of MnSOD has been described and has recently been associated with risk of human breast cancer. Our present case-control study was performed to explore the association between MnSOD genetic polymorphism and individual susceptibility to breast cancer. Ala-9Val polymorphism in the signal sequence of the protein for MnSOD was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a study population. There was no significant difference in risk for breast cancer development between patients positive and negative for the MnSOD Ala allele with adjusted odds ratio (OR): 0.86 (95% confidence interval (CI(0.43 to 1.72). When MnSOD Ala was combined with either cytochrome P450 1B1 CYP1B1*1 and catechol O-methyltransferase COMT-L (V158M) genotypes, the risk for developing breast cancer was significantly increased in patients with a body mass index (BMI) greater than 24 kg m(-2) (OR: 1.42 (95%CI=1.04-1.93)).


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Yazan: admin Tarih: Ağu 14th, 2008 | Kategori:: Breast cancer(Göğüs kanseri), NAT2

Int J Toxicol. 2004 Jan-Feb;23(1):25-31.

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Department of Toxicology, University of Gazi, Pharmacy Faculty, Ankara, Turkey. neslihan@gazi.edu.tr

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Yazan: admin Tarih: Ağu 4th, 2008 | Kategori:: Gene polymorphisms
Int J Toxicol. 2006 Sep-Oct;25(5):419-22.

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Humans are routinely exposed to mutagenic and carcinogenic chemicals. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. The integrity of most of the so-damaged DNAs is typically restored as a consequence of the action of certain DNA-repairing enzymes. In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. XRCC1 is a base-excision repair protein that plays a central role in the repair of DNA base damage and strand breaks. Amongst the known genetic polymorphisms of the DNA-repair genes, X-ray repair cross-complementing groups 1 and 3 (XRCC1 and XRCC3) have been studied most commonly. Inconsistent results have been reported regarding the associations between the Arg399Gln (exon 10) polymorphism of XRCC1 and either functional significance or the risk of tobacco-associated cancers. The Gln allele of this polymorphism was associated with higher levels of DNA adducts. Therefore we genotyped one of the polymorphism of XRCC1, Gln allele. The frequency of the polymorphic alleles varies among populations, suggesting an ethnic distribution of genotypes. There has been no information on interindividual variability of Arg399Gln genotype in the Turkish population. Due to the association between the Arg399Gln polymorphism of XRCC1 and the risk of tobacco-associated cancers, we preferred to evaluate the allelic frequencies of Arg399Gln genotype than the other polymorphisms in XRCC1 gene in healthy Turkish population by polymerase chain reaction-restriction fragment polymorphism (PCR-RFLP) analysis to enable to show interindividual differences and compare to other populations.


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