rs730031

This variant is located in the ADIPOR2 gene.

ClinVar annotation

Benign☆☆☆
1 submitter1 publication
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Research that mentions this SNP (1)

Association between variants in the genes for adiponectin and its receptors with insulin resistance syndrome (IRS)-related phenotypes in Mexican Americans
AssociationN=439Richardson DK et al.(2006)· Diabetologia

Candidate gene association study in 439 Mexican Americans examining variants in ADIPOQ, ADIPOR1, and ADIPOR2 genes and insulin resistance syndrome traits. ADIPOQ variants (rs4632532, rs266729) were associated with BMI, fasting insulin, and skinfold thickness. ADIPOR1 rs7539542 was associated with BMI and waist circumference. Notably, 14 ADIPOR2 SNPs were associated with fasting triglycerides, with rs10848569, rs929434, rs3809266, and rs12342 showing strongest associations (p<0.0004) and demonstrating that rs929434 explains 47% of previously detected linkage signal.

Traits studied:Body mass indexFasting HDL cholesterolFasting insulinFasting leptinFasting plasma glucoseFasting triglyceridesHOMA-S (insulin sensitivity)HOMA-β (β-cell function)Insulin resistance syndromeSum of skin fold thicknessType 2 diabetesWaist circumference

About ADIPOR2

The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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