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Background  A recent study investigated the  MYLIP  region in the Mexican population in order to fine-map the actual susceptibility variants of this  locus . The p.N342S polymorphism was identified as the underlying functional variant accounting for one of the previous signals of genome-wide association studies and the N342 allele was associated with higher cholesterol concentrations in Mexican dyslipidemic individuals. To date, there is no further evaluation on this genotype-phenotype association in the literature. In this scenario, and because of a possible pharmacotherapeutic target of dyslipidemia, the main aim of this study was to assess the influence of the  MYLIP  p.N342S polymorphism on lipid profile in Brazilian individuals.    Methods  1295 subjects of the general population and 1425 consecutive patients submitted to coronary angiography were selected. General characteristics, biochemical tests, blood pressures, pulse wave velocity, and coronary artery disease scores were analyzed. Genotypes for the  MYLIP  rs9370867 (p.N342S, c.G1025A) polymorphism were detected by high resolution melting analysis.    Results  No association of the  MYLIP  rs9370867 genotypes with lipid profile, hemodynamic data, and coronary angiographic data was found. Analysis stratified by hyperlipidemia, gender, and ethnicity was also performed and the sub-groups presented similar results. In both general population and patient samples, the  MYLIP  rs9370867 polymorphism was differently distributed according to ethnicity. In the general population, subjects carrying GG genotypes had higher systolic blood pressure (BP), diastolic BP, and mean BP values (129.0 ± 23.3; 84.9 ± 14.6; 99.5 ± 16.8 mmHg) compared with subjects carrying AA genotypes (123.7 ± 19.5; 81.6 ± 11.8; 95.6 ± 13.6 mmHg) (p = 0.01; p = 0.02; p = 0.01, respectively), even after adjustment for covariates. However, in analysis stratified by ethnicity, this finding was not found and there is no evidence that the polymorphism influences BP.    Conclusion  Our findings indicate that association studies involving this  MYLIP  variant can present distinct results according to the studied population. In this moment, further studies are needed to reaffirm if the  MYLIP  p.N342S polymorphism is functional or not, and to identify other functional markers within this gene.

MYLIP p.N342S polymorphism is not associated with lipid profile in the Brazilian population