Annotation of rs113095083

Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.

The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.

From Publication

TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives. Journal of hypertension. 2015. Chittani Martina et al.
PMID:25695618(opens in new window) PMCID:PMC4484731(opens in new window) DOI:10.1097/HJH.0000000000000541(opens in new window)

Gene

ILKAP

Variant

rs113095083

Phenotype Category

Efficacy

Association Significance

The study reports this association is not significant

PharmGKB ID

1444703731

Score
More info on scoring

0

Evidence for Clinical Annotations

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

    Study Parameters

    Study type

    meta-analysis, GWAS

    Study size

    485

    Association p-value

    = 6.37E-6

    Allele frequency

    C=0.07; T=0.93

    Biogeographical group
    More info on groups

    European

    Population description

    men; women

    Study Cohort: Pharmacogenomics of hydrochlorothiazide Sardinian study (PHSS) and Milan Hydrochlorothiazide study (HCTZ-Milan)

    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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