Expressive

rs11841646 - LINC01080

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate - Unknown journal (n.d.) · Unknown authors · PubMed 28054174

    ABSTRACT: Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS), however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population specific meta-analyses in sub-samples of Asian and European ances

  • The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip - Unknown journal (n.d.) · Unknown authors · PubMed 33817668

    ABSTRACT: Summary Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft-cleft lip (CL) and cleft lip and palate (CLP)-as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral clefts as one dimension of OFC severity, because the genetic architecture of these subtypes is not well understood. We tested for subtype-specific genetic associations in 44 bilateral CL (BCL) individuals, 434 unilateral CL (UCL) individuals, 530 bilateral CLP individuals (BCLP), 1,123 unilateral CLP (UCLP) individuals, and unrelated control individuals (N = 1,626), using a mixed-model approach. While no novel loci were found, the genetic architecture of UCL was distinct compared to B

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