Association between polymorphisms at the XXXX locus and the risk of @entity3384 with or without @entity2419 in the Polish population.

@entity1 @entity9147 @entity70582 @entity70581 @entity600 @entity70580 @entity13465 @entity2419 @entity3384
BACKGROUND: The locus on chromosome 15q13.3 containing @entity13465 is correlated with the risk of @entity3384 with or without @entity2419 ( @entity9147 /P). The aim of the present study was to find the @entity13465 functional variants implicated in the aetiology of this @entity600 in the Polish population. METHODS: Eight polymorphisms were genotyped in 334 @entity9147 /P @entity1 and 955 controls. In addition, the @entity13465 protein-coding region was sequenced in 96 @entity9147 /P @entity1 . RESULTS: Significant association with a risk of @entity3384 was found for 5 tested polymorphisms. The lowest ptrend values were identified for @entity70580 , @entity70581 , and @entity70582 (ptrend 4.09E-05, 3.35E-05, and 0.0002, respectively). The putative functional variant @entity70580 , located in a region that has enhancer activity, was associated with a 2.6-fold lower risk for @entity9147 /P (odds ratio [OR]   =   0.38; 95% confidence interval [CI], 0.24-0.61, p   =   2.37E-05). The previously reported association of @entity70582 with @entity9147 /P was replicated (OR   =   0.57; 95% CI, 0.44-0.73; p   =   1.10E-05). For all tested @entity13465 variants, no significant sex-by-genotype interaction effects were observed. The sequencing analysis did not detect any rare variants implicated in the development of @entity3384 . CONCLUSION: Our results might suggest that variants influencing @entity13465 expression levels, rather than variants affecting the function of the encoded protein, are significant factors in @entity9147 /P etiology. @entity600 Research (Part A), 2015.    2015 Wiley Periodicals, Inc.
