rs7590268

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

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GWAS Catalog Trait Associations (2)

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

facial morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)

Allele G

OR —

p 1.0e-8

N 4,680

Large GWAS

European

orofacial cleft

Ludwig KU et al. “Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.” Nature Genetics 44(9):968-71 (2012)

Allele G

OR 1.42

p 1.0e-8

N 2,383

Large GWAS

multi-ancestry

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Research that mentions this SNP (2)

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Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans

AssociationN=3,436Jia Z. et al.(2015)· American Journal of Medical Genetics Part A

This replication study confirms the association between rs8001641 (13q31.1, near SPRY2) and nonsyndromic cleft lip with cleft palate (NSCLP) in European populations (p=4.02×10⁻⁵, OR=1.86, 95% CI: 1.38-2.52). In 946 pedigrees from four ancestral populations (US, Danish, Japanese, Mongolian), the authors genotyped six candidate SNPs from prior GWA meta-analyses and sequenced conserved regions near rs8001641, identifying novel rare variants with potential transcription factor binding effects.

Traits studied:Nonsyndromic cleft lip only (NSCLO)Nonsyndromic cleft lip with cleft palate (NSCLP)Nonsyndromic cleft lip with or without palate (NSCL/P)Nonsyndromic cleft palate only (NSCPO)

PubMed DOI Metascience Observatory

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Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians

AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial clefts

PubMed DOI Metascience Observatory

About THADA

This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]