Table 1: Main GWAS hits and genes possibly involved according to the authors.

RegionPossible gene involvedFunction*

8q24No know gene
10q25VAX1 [64]Transcription factor, apparently involved in the development of the anterior ventral forebrain.
1p22ABCA4 [64]Transmembrane protein expressed in retinal photoreceptors. Mutations are involved with retinopathies.
17q22NOG [65]Secreted protein; binds and inactivates TGFβ 1 proteins. Mutations are involved with bony fusion malformations, mainly in head and hands.
20q12MAFB [64]Transcription factor, acts in the differentiation and regulation of hematopoietic cell lineages. Mutations cause multicentric carpotarsal osteolysis syndrome.
1p36PAX7 [64]Transcription factor. Plays a role during neural crest development. Defects cause a form of rhabdomyosarcoma.
2p21THADA [65]Unclear function. Defects are related with thyroid tumors.
13q31.1SPRY2 [65]Citoplasm protein, colocalized with cytoskeleton proteins. Possibly acts as antagonist of FGF2.
15q13.1FMN1 [65]Peripheral membrane protein plays a role in cell-cell adhesion.
GREM1 [65]Secreted protein; BMP3 antagonist, expressed in fetal brain, small intestine, and colon.
17p13NTN1 [64]Extracellular matrix protein, mediates axon outgrowth and guidance. It may regulate diverse cancer tumorigenesis.

*According to OMIM database.
1Transforming growth factor beta.
2Fibroblast growth factor.
3Bone morphogenetic protein.