Annotation of rs6545816

Allele A is not associated with increased response to hydroxyurea in people with beta-Thalassemia.

From Publication

An enhancer haplotype may influence BCL11A expression levels and the response to hydroxyurea in beta-thalassemia patients. Pharmacogenomics. 2017. Maroofi Nahal et al.
PMID:28639471(opens in new window) DOI:10.2217/pgs-2017-0019(opens in new window)

Gene

BCL11A

Variant

rs6545816

Phenotype Category

Efficacy

Association Significance

The study reports this association is not significant

PharmGKB ID

1448634144

Score
More info on scoring

-1.25

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    cohort

    Study size

    81 (cases=51; controls=30)

    Association p-value

    = 0.07

    Statistical analysis

    OR: 2.4

    Confidence interval

    0.9 - 6.2

    Allele frequency

    A: case=0.48, control=0.25

    Biogeographical group
    More info on groups

    Near Eastern

    Population description

    Study Cohort: cases = responders, controls = non-responders

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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