Table 8. Summary of neurological development variants.
Chr | rsID | Nearest Gene | Bayley Phenotype | Growth Phenotype | P-Val | N | Relevant Expression & effects of variants | Literature Reference |
---|---|---|---|---|---|---|---|---|
17 | rs178850 | RAB11FIP4 | Adaptive | lambda | 2.02E-08 | 428 | Highly brain specific (7-10-fold higher than other tissues), affects neurofibroma growth, next to NF1 and OMG | Bartelt-Kirbach et al., 2009 [44] |
1 | rs6672510 | PLD5 | * | lambda | 3.12E-08 | 1053 | High expression in brain, then adrenal and ovary, previously associated with autism and multiple sclerosis. | Anney et al., 2010 [45], Baranzini et al., 2009 [46] |
5 | rs6878810 | LHFPL2 | Social-Emotional | alpha | 1.13E-07 | 428 | Genetic modifier of Parkinson's age of onset, new AD susceptibility locus | Hill-Burns et al., 2016 [25], Potkin et al., 2009 [26] |
XY-PAR1 | rs5949162 | LOC107985677 | Social-emotional | * | 1.92E-07 | 227 (M) | high expression in brain and endometrium | |
1 | rs584297 | LOC105373115, (near STUM) | Adaptive | lambda | 3.15E-07 | 428 | STUM codes for highly brain specific, mechanosensory protein | Desai et al., 2014 [47] |
1 | rs525410 | LAMC2 | Social-Emotional | lambda | 4.56E-07 | 428 | LAMC1 is just upstream, highly placenta specific, LAMC2 is near NMNAT2, brain specific, cognitive traits candidate | Bi, et al., 2017 [48], Sun et al., 2008 [43] |
8 | rs7387693 | MTMR7 | Adaptive | * | 9.54E-07 | 433 | Highly brain specific, candidate for Creutzfeldt-Jacob risk, smoking cessation | Sanchez-Juan et al., 2012 [49] |
12 | rs1291359 | HTR7P1 | Adaptive | * | 1.55E-07 | 433 | Serotonin receptor pseudogene, SNP is in promoter region of HEBP1 (Immune system related) | |
8 | rs11787410 | CSMD1 | Adaptive | lambda | 8.84E-07 | 428 | High brain and testis expression, linked to schizophrenia risk | Sakamoto et al., 2016 [50] |
11 | rs10769889 | LMO1 | Social-Emotional | alpha | 8.88E-07 | 428 | Pediatric neuroblastoma susceptibility candidate, expressed in adrenal, brain and skin | Oldridge et al., 2015 [51] |
3 | rs4955988 | CACNA2D3 | Adaptive | * | 2.13E-06 | 433 | highest expression in brain, next in adrenal, calcium channel subunit, role in regulating iron uptake | Baeza-Richer, Carlos et al. (2013) [52] |
8 | rs7462219 | MTMR7 | Adaptive | * | 2.67E-06 | 433 | Highly brain specific, candidate for Creutzfeldt-Jacob risk, smoking cessation | Sanchez-Juan et al., 2012 [49] |
XY—PAR2 | rs306875 | SPRY3 | Adaptive | linf | 1.15E-06 | 223 (M) | Brain expression, Placental expression, autism candidate | Ning et al., 2015 [53] |
9 | rs4741967 | SLC1A1 | Social-Emotional | linf | 1.21E-06 | 428 | Glutamate transporter implicated in epilepsy, linked to OCD risk | Afshari et al., 2015 [54], Arnold, et al., 2006 [55] |
22 | rs5751491 | LINC01639, just upstream of MPPED1 | Adaptive | lambda | 1.32E-06 | 428 | Almost exclusively brain expressed, region linked to schizophrenia risk, bipolar disorder and brain malignancies | Chen et al., 2010 [56] |
17 | rs11658800 | ELAC2 | Language | * | 2.48E-06 | 433 | High expression in the brain tissues | |
16 | rs2938729 | CDH8 | Language | linf | 1.61E-06 | 428 | Highly brain-specific | |
11 | rs10833478 | NELL1 | Motor | * | 3.41E-07 | 433 | Brain and kidney specific, interacts with neural EGFL | Shen et al., 2016 [57] |
14 | rs7155811 | TMEM260 | Motor | * | 2.17E-06 | 433 | Implicated in pediatric neural development | Ta-Shma et al., 2017 [58] |
3 | rs7611656 | TRANK1* | Adaptive | lambda | 3.36E-06 | 428 | High endometrial expression, bipolar candidate | Chen et al., 2013 [59], Ruderfer et al., 2014 [60] |
14 | rs11628108 | C14orf177 | Social-Emotional | * | 1.56E-06 | 433 | Testis expression, linked to late onset Alzheimer's | Kunkle et al., 2016 [61] |
14 | rs12434723 | C14orf177 | Social-Emotional | * | 2.61E-06 | 433 | Testis expression, linked to late onset Alzheimer's | Kunkle et al., 2016 [61] |
Features of a collection of the genes linked to 22 SNPs that we have tied to the neurological traits, having p-values < 5x10-6 and either: high brain levels of expression or specificity of expression, or published phenotypic effects related to neurological functions in human studies. The notation (M) in the N column indicates that the dependency was determined for male subjects only. TRANK1, marked with an asterisk, falls just below the p-value threshold so does not appear in Table 4.