Table 9. Summary of some variants linked to fetal and early childhood development.
| Chr | rsID | Nearest Gene | Bayley Phenotype | Growth Phenotype | P-Val | N | Relevant Expression & effects of variants | Literature Reference |
|---|---|---|---|---|---|---|---|---|
| 1 | rs12734338 | PPP1R12B | * | linf | 2.23E-09 | 1053 | protein phosphatase 1 regulatory subunit, expression in heart, skeletal muscle, brain and endometrium, link to celiac disease & asthma in children | Moorhead et al. 1998 [62], Okamoto et al. 2006 [63], Freidin and Polonikov, 2013 [64], Östensson et al. 2013 [23], Montén et al 2015 [65] |
| 1 | rs6672510 | PLD5 | * | lambda | 3.12E-08 | 1053 | High expression in brain, adrenal and ovary | Anney et al. 2010 [45], Baranzini et al. 2009 [46] |
| 19 | rs2228611 | DNMT1 | Adaptive | alpha | 6.46E-08 | 428 | DNA methyl-transferase—Highest expression in placenta, transcript level associates with placental weight | Mukhopadhyay et al. 2016 [66], Branco et al. 2016 [67] |
| 10 | rs7071157 | PFKFB3 | * | linf | 4.08E-07 | 1053 | High expression in skeletal muscles, regulates glycolysis & cyclin-dependent kinase 1 Links glucose metabolism to cell proliferation, involved in brain development (GO:0007420) | Kessler & Eschrich, 2001 [68] |
| 1 | rs525410 | LAMC2 | Social-Emotional | lambda | 4.56E-07 | 428 | Expressed in several fetal tissues and placenta | |
| 1 | rs1798246 | PRDM16 | Adaptive | alpha | 4.68E-07 | 428 | Linked to obesity, heart function and T2D | Pérez-Belmonte et al. 2017 [69] |
| 4 | rs5020219 | ANKRD17 | Adaptive | lambda | 5.97E-07 | 428 | widespread expression, interacts with cyclin-dependent kinase 2 | |
| 14 | rs12587898 | IFI27L1 | Adaptive | lambda | 6.70E-07 | 428 | expression high in in testis, adrenal and ovary, linked to anthropometric traits (height, weight etc.) | |
| 15 | rs936214 | PAK6 | Language | linf | 7.54E-07 | 428 | High expression in brain tissues, Kinase involved in cell proliferation and adhesion, placental expression | |
| 1 | rs12030971 | DEPDC1-AS1 | Language | linf | 7.91E-07 | 428 | regulates mitotic progression, placental expression | Mi et al., 2015 [70] |
| 7 | rs1123227 | LINC01448 | Social-Emotional | alpha | 9.56E-07 | 428 | Placenta and testis specific expression | |
| 7 | rs9691259 | IGFBP3 | * | alpha | 1.30E-06 | 1053 | Prolongs half-life of IGFs, high expression in placenta. Low levels linked to aging and cell senescence | Hong and Kim, 2018 [71] |
| 3 | rs1131364 | FETUB | Adaptive | lambda | 1.07E-06 | 428 | Liver-specific expression, linked to osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors | |
| 1 | rs4846400 | ESRRG | Adaptive | linf | 1.16E-06 | 428 | estrogen-related receptor, regulates DNMT1, involved in bone formation and cell growth regulation | |
| 2 | rs2164807 | ATOH8 | Adaptive | linf | 1.39E-06 | 428 | Transcription factor, highly expressed in fat cells, linked to muscle regeneration | Güttsches et al., 2015 [72] |
| 12 | rs987547 | PPFIBP1 | Social-Emotional | alpha | 1.56E-06 | 428 | tyrosine-phosphatase interacting protein, high expression in heart and placenta | |
| 20 | rs6123702 | CTCFL | Adaptive | alpha | 1.60E-06 | 428 | ZF transcription factor, insulator factor, spermatocyte-specific expression |
Features of a collection of genes linked to 17 SNPs that we have tied to the neurological traits, having p-values < 1.6x10-6. These had either: expression in the placenta or endometrium, or published phenotypic functions related to cell growth and selected other functions that could be connected to early development functions in human studies.