NC_000009.12:g.33403472T>C AND OBESITY (BMIQ17), SUSCEPTIBILITY TO

Germline classification:
risk factor (1 submission)
Last evaluated:
May 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000029131.6

Allele description [Variation Report for NC_000009.12:g.33403472T>C]

NC_000009.12:g.33403472T>C

Genes:
AQP7:aquaporin 7 [Gene - OMIM - HGNC]
LOC105376020:uncharacterized LOC105376020 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NC_000009.12:g.33403472T>C
HGVS:
  • NC_000009.12:g.33403472T>C
  • NG_027764.1:g.4048A>G
  • NC_000009.11:g.33403470T>C
Nucleotide change:
-953, A-G
Links:
OMIM: 602974.0002; dbSNP: rs2989924
NCBI 1000 Genomes Browser:
rs2989924

Condition(s)

Name:
OBESITY (BMIQ17), SUSCEPTIBILITY TO
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000050581OMIM
no assertion criteria provided
risk factor
(May 1, 2007) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities.

Prudente S, Flex E, Morini E, Turchi F, Capponi D, De Cosmo S, Tassi V, Guida V, Avogaro A, Folli F, Maiani F, Frittitta L, Dallapiccola B, Trischitta V.

Diabetes. 2007 May;56(5):1468-74. Epub 2007 Mar 9.

PubMed [citation]
PMID:
17351148

Details of each submission

From OMIM, SCV000050581.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Prudente et al. (2007) analyzed SNPs in the AQP7 gene in 977 Italian individuals (530 women and 447 men) and found association between a -953A-G promoter SNP and increased body mass index (BMIQ17; see 614411) in women; the association was confirmed in an independent case-control study of morbid obesity involving 299 women (odds ratio, 1.66; p = 0.04). Functional studies showed that the -953G promoter had reduced transcriptional activity and impaired ability to bind CCAAT/enhancer binding protein-beta (CEBPB; 189965) transcription factor. In addition, AQP7 expression in adipose tissue decreased from AA to AG to GG individuals (p = 0.038).

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

Last Updated: Dec 24, 2023