rs8756

This variant is located in the HMGA2 gene.

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GWAS Catalog Trait Associations (14)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.06

p 1.0e-300

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.08

p 5.0e-121

N 607,511

Major Consortium StudyLarge GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.04

p 2.0e-141

N 525,444

Large GWAS

multi-ancestry

Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)

Allele C

OR 0.06

p 5.0e-90

N 253,288

Large GWAS

European

Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)

Allele C

OR 0.04

p 5.0e-12

N 59,771

Major Consortium StudyLarge GWAS

Hispanic or Latin American

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)

Allele C

OR 0.06

p 3.0e-18

N 57,129

Large GWAS

European

Gudbjartsson DF et al. “Many sequence variants affecting diversity of adult human height.” Nature Genetics 40(5):609-15 (2008)

Allele C

OR 6.60

p 2.0e-16

N 30,968

Large GWAS

European

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)

Allele A

OR —

p 7.0e-39

N 2,535,601

Large GWAS

multi-ancestry

glucose measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.03

p 7.0e-29

N 419,671

Major Consortium StudyLarge GWAS

European

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)

Allele C

OR 9.37

p 7.0e-21

N 33,748

Large GWAS

European

birth weight, parental genotype effect measurement

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)

Allele C

OR 0.03

p 1.0e-19

N 230,069

Large GWAS

European

cerebral cortex area attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)

Allele C

OR 7.74

p 1.0e-14

N 33,748

Large GWAS

European

glycoprotein measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele A

OR 0.02

p 2.0e-14

N 450,015

Large GWAS

multi-ancestry

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)

Allele C

OR 0.01

p 2.0e-13

N 188,908

Large GWAS

European

Haas CB et al. “Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women.” Endocrinology 163(4) (2022)

Allele C

OR 0.02

p 2.0e-9

N 196,901

Large GWAS

European

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)

Allele C

OR 7.19

p 6.0e-13

N 33,748

Large GWAS

European

Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)

Allele C

OR —

p 5.0e-11

N 35,657

Large GWAS

European

neutrophil count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.02

p 9.0e-13

N 432,666

Large GWAS

multi-ancestry

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Research that mentions this SNP (2)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci

AssociationN=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.

Traits studied:Adult heightHuman stature

PubMed DOI Metascience Observatory

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Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele

AssociationN=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.

Traits studied:Age of menarcheHeightUterine leiomyomata

PubMed DOI Metascience Observatory

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]

rs8756

GWAS Catalog Trait Associations (14)

body height

type 2 diabetes mellitus

glucose measurement

brain attribute

birth weight, parental genotype effect measurement

cerebral cortex area attribute

glycoprotein measurement

sex hormone-binding globulin measurement

cortical thickness

neutrophil count

Research that mentions this SNP (2)

About HMGA2

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