NC_000012.12:g.69430244C>T AND hydrochlorothiazide response - Efficacy

Clinical significance:drug response (Last evaluated: Jul 11, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211271.1

Allele description [Variation Report for NC_000012.12:g.69430244C>T]

NC_000012.12:g.69430244C>T

Gene:
YEATS4:YEATS domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q15
Genomic location:
Preferred name:
NC_000012.12:g.69430244C>T
HGVS:
  • NC_000012.12:g.69430244C>T
  • NC_000012.11:g.69824024C>T
Links:
PharmGKB Clinical Annotation: 981202103; dbSNP: rs7297610
NCBI 1000 Genomes Browser:
rs7297610

Condition(s)

Name:
hydrochlorothiazide response - Efficacy
Identifiers:
MedGen: CN236559

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268389PharmGKBreviewed by expert panel
drug response
(Jul 11, 2016)
Condition: hydrochlorothiazide response - Efficacy
Drug reported used for: Essential hypertension
germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268389

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.

Turner ST, Bailey KR, Fridley BL, Chapman AB, Schwartz GL, Chai HS, Sicotte H, Kocher JP, Rodin AS, Boerwinkle E.

Hypertension. 2008 Aug;52(2):359-65. doi: 10.1161/HYPERTENSIONAHA.107.104273. Epub 2008 Jun 30.

PubMed [citation]
PMID:
18591461
PMCID:
PMC2692710

Association of chromosome 12 locus with antihypertensive response to hydrochlorothiazide may involve differential YEATS4 expression.

Duarte JD, Turner ST, Tran B, Chapman AB, Bailey KR, Gong Y, Gums JG, Langaee TY, Beitelshees AL, Cooper-Dehoff RM, Boerwinkle E, Johnson JA.

Pharmacogenomics J. 2013 Jun;13(3):257-63. doi: 10.1038/tpj.2012.4. Epub 2012 Feb 21.

PubMed [citation]
PMID:
22350108
PMCID:
PMC3360116
See all PubMed Citations (3)

Details of each submission

From PharmGKB, SCV000268389.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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