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. 2010 Apr 21;18(8):953–959. doi: 10.1038/ejhg.2010.52

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.

a

Gene coverage was based on genetic variation present in the HapMap database build 18.

b

Short description adapted from gene ontology description provided in the UCSC genome graph tool.

c

P-values reported by QTDT using command WEGA (additive model), tests for association given linkage on a specific locus.

d

P-values reported by QTDT using command WEGD (dominant model), tests for association given linkage on a specific locus.