rs10146997

This is a intron variant variant in the NRXN3 gene.

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GWAS Catalog Trait Associations (5)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.03
p 2.0e-68
N 1,122,049
Large GWAS
European

body height

Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele A
OR 0.02
p 3.0e-22
N 453,169
Large GWAS
European

fat pad mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.03
p 1.0e-21
N 337,196
Large GWAS
European

type 2 diabetes mellitus

Scott RA et al. “An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.” Diabetes 66(11):2888-2902 (2017)
Allele G
OR 1.07
p 2.0e-9
N 159,208
Large GWAS
European

waist circumference

Heard-Costa NL et al. “NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.” Plos Genetics 5(6):e1000539 (2009)
Allele G
OR 0.65
p 5.0e-8
N 31,373
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (2)

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Obesity-susceptibility loci and the tails of the pediatric BMI distribution
AssociationN=7,225Jonathan A. Mitchell et al.(2013)· Obesity

This study examined 8 adult obesity-susceptibility loci in 7,225 children aged 2-18 years using quantile regression to assess whether genetic effects on BMI are uniform across the BMI distribution. The authors found that obesity risk alleles (FTO rs3751812, MC4R rs12970134, TMEM18 rs2867125, BDNF rs6265, SEC16B rs10913469, GNPDA2 rs13130484, NRXN3 rs10146997, and TNNI3K rs1514175) were more strongly associated with BMI increases at the upper tail of the distribution (85th-95th percentiles, β=0.06-0.11, p<10^-6) compared to the lower tail, suggesting that standard linear regression approaches may underestimate genetic effects on childhood obesity.

Traits studied:BMIChildhood obesityObesity
PubMedDOIMetascience Observatory
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Susceptibility variants for obesity and colorectal cancer risk: The multiethnic cohort and PAGE studies
AssociationN=11,673Unhee Lim et al.(2012)· International Journal of Cancer

This case-control study of 2,033 colorectal cancer cases and 9,640 controls investigated whether BMI and waist size susceptibility variants are associated with colorectal cancer risk. Two obesity SNPs showed significant associations: KCTD15 rs29941 (OR = 0.90, p = 0.01) was protective, while MC4R rs17782313 (OR = 1.12, p = 0.02) increased risk. However, neither association remained significant after multiple comparisons correction, and overall obesity variants showed minimal effects on colorectal cancer.

Traits studied:Body mass index (BMI)Colorectal cancerWaist size
PubMedDOIMetascience Observatory

About NRXN3

This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]

View all NRXN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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