Association between three single nucleotide polymorphisms in eotaxin (CCL 11) gene, hexanucleotide repetition upstream, severity and course of coronary atherosclerosis

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Authors	MÁCHAL Jan VAŠKŮ Anna KINCL Vladimír HLAVNA Marián BARTÁKOVÁ Vendula JURAJDA Michal MELUZÍN Jaroslav
Year of publication	2012
Type	Article in Periodical
Magazine / Source	Journal of applied genetics
MU Faculty or unit	Faculty of Medicine
Citation
Web	http://www.springerlink.com/content/km07l108721m1m24/?MUD=MP
Doi	http://dx.doi.org/10.1007/s13353-012-0104-2
Field	Cardiovascular diseases incl. cardiosurgery
Keywords	Atherosclerosis; Coronary artery disease; Eotaxin gene; Inflammation; SCYA11 polymorphism
Attached files	Article.pdf
Description	The impact of three single-nucleotide polymorphisms in eotaxin (SCYA11) gene promoter (- 426C/T and - 384A/G) and first exon (67G/A) and recently described hexanucleotide (GAAGGA)n 10.9 kb upstream on coronary atherosclerosis was investigated. Elective coronary angiography of 1050 consecutive subjects was performed. All patients were genotyped for the three SNPs. In a subset of the first 472 samples, the number of (GAAGGA)n repetitions was determined. For further evaluation, short and long variants were distinguished; the borderline corresponded with the median value of all alleles: 8 and less repetitions were considered as short sequence, 9 and more repetitions as long. Patients with bronchial asthma or insignificant atherosclerosis were excluded; the remaining group of 933 subjects was further investigated. Patients were grouped according to the form of CAD (ACS vs. stable angina) and the number of diseased vessels. The GG variant of 67 G/A polymorphism was associated with acute form of CAD compared to stable angina (p = 0.0011, pcorr. = 0.013). The number of (GAAGGA)n repetitions in our set of patients ranged from 3 to 12. There were no subjects with 4 or 5 repetitions. The frequency of short repetition alleles increased with the number of affected vessels (1 vs. 3 diseased vessels: p = 0.0043, pcorr = 0.034). In our study, the (GAAGGA)n hexanucleotide was associated with the severity of CAD. The 67 GG was associated with acute form of CAD. None of the two SNPs in eotaxin promoter had any relation to CAD. The number of (GAAGGA)n repetitions can thus be a novel genetic marker of the extent of CAD.