rs2144300

This is a regulatory region variant variant in the GALNT2 gene.

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GWAS Catalog Trait Associations (29)

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

high density lipoprotein cholesterol 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 T
OR 0.06
p 1.0e-75
N 578,125
Major Consortium StudyLarge GWAS
multi-ancestry
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele T
OR 0.04
p 2.0e-25
N 288,127
Large GWAS
East Asian
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele T
OR 0.06
p 5.0e-8
N 222,097
Large GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.043
p 7.0e-29
N 94,674
Large 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 T
OR 0.03
p 1.0e-8
N 74,970
Large GWAS
East Asian
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 0.73
p 3.0e-13
N 58,701
Large GWAS
East Asian
Willer CJ et al. “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.” Nature Genetics 40(2):161-9 (2008)
Allele T
OR 1.11
p 3.0e-14
N 8,656
Large GWAS
European

triglyceride 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 0.05
p 2.0e-75
N 391,797
Major Consortium StudyLarge GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.04
p 2.0e-23
N 136,016
Large GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.036
p 1.0e-17
N 94,674
Large GWAS
multi-ancestry

triglyceride measurement, phospholipid level

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 7.0e-50
N 136,016
Large GWAS
multi-ancestry

triglycerides in medium VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 2.0e-33
N 136,016
Large GWAS
multi-ancestry

triglycerides in small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 6.0e-33
N 136,016
Large GWAS
multi-ancestry

triglycerides:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 3.0e-31
N 136,016
Large GWAS
multi-ancestry

triglyceride measurement, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 3.0e-30
N 136,016
Large GWAS
multi-ancestry

VLDL particle size

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 4.0e-30
N 136,016
Large GWAS
multi-ancestry

total lipids in medium VLDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 2.0e-28
N 136,016
Large GWAS
multi-ancestry

phospholipids in VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 2.0e-27
N 136,016
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Common genetic variants associated with lipid profiles in a Chinese pediatric population
AssociationN=3,503Yue Shen et al.(2013)· Human Genetics

This study tested seven SNPs from European lipid-associated loci in 3,503 Chinese school-age children and found that six SNPs (rs2144300, rs1260333, rs1260326, rs10105606, rs1748195, rs964184) showed significant associations with triglyceride levels (p < 0.05 FDR-corrected), while three SNPs were associated with total cholesterol and four with LDL-cholesterol. Three SNPs (rs1260333 OR=0.82, rs1260326 OR=0.82, rs964184 OR=1.36) showed strong associations with dyslipidemia risk, demonstrating that lipid-susceptibility variants identified in European populations have similar effects in Chinese children.

Traits studied:DyslipidemiaHDL-cholesterolLDL-cholesterolTotal cholesterolTriglycerides
PubMedDOIMetascience Observatory

About GALNT2

This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

View all GALNT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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