Table 2. Genes and selected SNPs in linkage peak, TNFα.
Chromosome | Gene (coverage)a | Short descriptionb | SNP | Position | QTDT addc | QTDT domd |
---|---|---|---|---|---|---|
1 | CSF1 (58%) | Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controling the production, differentiation, and function of two related white cell populations of the blood, the granulocytes and the monocytes-macrophages. | rs915357 | Intron | ||
rs333968 | Intron | 0.055+ | 0.060+ | |||
rs333970 | Intron | |||||
rs3738760 | Coding exon | |||||
CD53 (52%) | Cell surface glycoprotein that is known to complex with integrins. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein. | rs10494122 | Intron | |||
rs10857833 | Intron | |||||
rs6679497 | Intron | 0.012* | 0.009** | |||
rs4839581 | Intron | |||||
rs3790722 | Intron | |||||
FAM19A3 (100%) | Contains conserved cysteine residues at fixed positions, and are distantly related to MIP-1α, a member of the CC-chemokine family. | rs4450019 | Intron | 0.019* | 0.033* | |
rs11102524 | Intron | |||||
11 | MADD (68%) | Tumor necrosis factor alpha (TNFα) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNFα receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. | rs7114704 | Intron | ||
rs10501320 | Intron | |||||
rs10501321 | Intron | |||||
rs10838689 | Intron | |||||
rs2290149 | Intron | |||||
rs11039183 | Intron | |||||
rs753993 | Intron | |||||
SELH (100%) | This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. | rs9420 | Intron boundary | |||
rs3017889 | Downstream | |||||
CD6 (30%) | CD6 is a monomeric 105- or 130-kD membrane glycoprotein that is involved in T-cell activation. | rs2905504 | Intron | |||
rs11230550 | Intron | |||||
rs11230553 | Intron | |||||
rs2283263 | Intron | |||||
rs11230559 | Intron | |||||
rs11230563 | Coding exon* | |||||
rs2074225 | Coding exon* | |||||
rs1050922 | Coding exon | |||||
CD5 (68%) | Human T-cell surface glycoprotein of relative molecular mass (Mr) 67 000, has been implicated in the proliferative response of activated T cells and in T-cell helper function. | rs3862667 | Intron | |||
rs572350 | Intron | |||||
rs671444 | Intron | |||||
rs12364244 | Intron | |||||
rs637186 | Coding exon* | |||||
17 | GPS2 (100%) | This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. | rs2270981 | Coding exon | ||
rs2292064 | Coding exon | |||||
TNFA-SF (80%) | This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. | rs9899183 | Intron | |||
rs12937543 | Promoter | |||||
rs4968211 | Promoter | |||||
rs11552708 | Coding Exon* | |||||
rs3803800 | Coding Exon* | |||||
rs6608 | 3'UTR | |||||
CD68 (50%) | This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophagesThe protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. | rs9896688 | Intron boundary | |||
rs9901673 | Coding exon* | |||||
rs9901675 | Coding exon* |
+P<0.1; *P<0.05; **P<0.01.
Gene coverage was based on genetic variation present in the HapMap database build 18.
Short description adapted from gene ontology description provided in the UCSC genome graph tool.
P-values reported by QTDT using command WEGA (additive model), tests for association given linkage on a specific locus.
P-values reported by QTDT using command WEGD (dominant model), tests for association given linkage on a specific locus.