rs8756
This variant is located in the HMGA2 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (2)
▶Genome-wide association scan for stature in Chinese: evidence for ethnic specific lociAssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics
Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.
▶Uterine leiomyomata and decreased height: a common HMGA2 predisposition alleleAssociationN=248Jennelle C. Hodge et al.(2009)· Human Genetics
This family-based candidate gene study identified a TC227 dinucleotide repeat (27 TC repeats) in the 5' UTR of HMGA2 significantly associated with uterine leiomyomata predisposition (p = 0.00005) and decreased height (p = 0.0021) in 248 White sister-pair families. TC227-positive women were on average 1.5 cm shorter than non-carriers. Expression analysis showed a trend toward higher HMGA2 expression in fibroid tissue from TC227 carriers, and the authors propose TC227 may influence both phenotypes through effects on age of menarche.
About HMGA2
This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
View all HMGA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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