title: Expression and variability of lipid metabolism genes in intracranial aneurysm.
abstract: The objective of this study was to investigate the association between mRNA expression and single nucleotide polymorphisms (SNPs) of the ATP-binding cassette transporter (ABCA1) gene, apolipoprotein A1 (APOA1) gene, low-density lipoprotein (LDLR) gene and RNA gene located in the CDKN2B-CDKN2A cluster (CDKN2B-AS1) involved in lipid metabolism and the occurrence of intracranial aneurysm (IA). Fifty three IA patients, and 27 controls (IA-free) were enrolled in this study and were genotyped for seven single nucleotide polymorphisms. Increased expression of the LDLR gene in IA patients was observed. The A/G genotype and the A allele of the c. -113G>A polymorphism of the APOA1 gene were associated with increased occurrence of IA (ORs 12.36 and 14.14, respectively), while the G/G genotype and G allele showed the opposite tendency (ORs 0.06 and 0.07, respectively). We also detected that the A/A-G/A combined genotype of the c. -113G>A - APOA1 and g.46859A>G - LDLR SNPs was associated with a decreased occurrence of IA. Moreover, the A/G-G/G combined genotype of the c.656G>A - ABCA1 and c. -113G>A - APOA1 was associated with a decreased occurrence of IA. The results of our study suggest the association between expression and variability of lipid metabolism genes and occurrence of IA.
authors.affiliation: University of Lodz Department of Molecular Genetics Lodz Poland.
authors.forename: E
authors.initials: E
authors.lastname: Synowiec
authors.affiliation: University of Lodz Department of Molecular Genetics Lodz Poland.
authors.forename: K A
authors.initials: KA
authors.lastname: Wojcik
authors.affiliation: Medical University of Lodz, Barlicki University Hospital Department of Neurosurgery and Neurooncology Lodz Poland.
authors.forename: R
authors.initials: R
authors.lastname: Wójcik
authors.affiliation: Medical University of Lodz, Barlicki University Hospital Department of Neurosurgery and Neurooncology Lodz Poland.
authors.forename: K
authors.initials: K
authors.lastname: Wiśniewski
authors.affiliation: Medical University of Lodz Laboratory of Clinical Neurophysiology Lodz Poland.
authors.forename: M
authors.initials: M
authors.lastname: Fila
authors.affiliation: University of Lodz Department of Molecular Genetics Lodz Poland.
authors.forename: P
authors.initials: P
authors.lastname: Tokarz
authors.affiliation: Medical University of Lodz Department of Molecular Pathology and Neuropathology Lodz Poland.
authors.forename: M
authors.initials: M
authors.lastname: Bieńkowski
authors.affiliation: Medical University of Lodz, Barlicki University Hospital Department of Neurosurgery and Neurooncology Lodz Poland.
authors.forename: D
authors.initials: D
authors.lastname: Jaskolski
authors.affiliation: University of Lodz Department of Molecular Genetics Lodz Poland jblasiak@biol.uni.lodz.pl.
authors.forename: J
authors.initials: J
authors.lastname: Blasiak
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D003710:Demography; D004843:Epistasis, Genetic; D005260:Female; D005786:Gene Expression Regulation; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics*; D050356:Lipid Metabolism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger