Table 2 Top SNPs in or near genes with roles in pregnancy and development
From: A whole genome association study of mother-to-child transmission of HIV in Malawi
CHR | SNPtype | P | Nearest gene | Presumed gene function |
|---|---|---|---|---|
17 | rs8069770a | 3.79E-05 | Heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1) | Abundant expression in placenta; HIV-1 requires the gene product heparan sulfate proteoglycans for uptake in trophoblasts (cells forming the placental barrier); involved in biosynthesis of an entry receptor for herpes simplex virus 1 |
17 | rs12306a | 3.92E-05 | WD repeat and SOCS box-containing 1 (WSB1) | Unknown protein function induced by Hedgehog signaling in embryonic structures during chicken development |
4 | rs1433666a | 1.00E-04 | Glutamate receptor, ionotropic, delta 2 (GRID2) | Homozygosity for this mutation in mice results in death shortly after birth, related to the loss of mid- and hindbrain neurons during late embryogenesis |
5 | rs6884962b | 1.00E-04 | NK2 transcription factor related, locus 5 (Drosophila) (NKX2-5) | Regulates tissue-specific gene expression essential for tissue differentiation; regulates temporal and spatial patterns of development |
7 | rs4722999a | 1.00E-04 | Corticotropin releasing hormone receptor 2 (CRHR2) | Detected in placenta, myometrium, decidua, and fetal membranes; expression is down-regulated in uterine tissues during pregnancy, most pronounced in laboring cervix; suggested paracrine role in birth process (for example, effects on macrophages and endothelial cells) |
2 | rs2677510b | 3.00E-04 | GLI-Kruppel family member GLI2 (GLI2) | Role during embryogenesis, DNA binding, and Sonic hedgehog (Shh) signaling to oncogenes in embryonal carcinoma cells |
6 | rs2268447a | 4.00E-04 | Pleiomorphic adenoma gene-like 1 (PLAGL1) | Mutations associated with congenital abnormalities, potential role in ovarian and other types of cancer; genetically imprinted in neonatal diabetes |