Rs4986791

rs4986791, a SNP also known as Thr399Ile (and also 1196C/T) in the TLR4 gene, is often studied along with a cosegregating SNP known as Asp299Gly, rs4986790. (TLR4 encodes a receptor involved in the innate immune response.) Together, these SNPs have been reported to be associated with a wide variety of both infectious and non-infectious diseases, although there are conflicting or even contradictory results also reported in some cases. The risk allele for rs4986791 is (T).

Reported associations include :


 * Diabetic neuropathy
 * These SNPs may be protective


 * Heart disease
 * Men with the risk alleles for both SNPs are at increased risk for myocardial infarction in this study of over 2000 individuals.
 * rs4986790(G) carriers are not at increased risk for myocardial infartions, at least in this study of ~200 individuals.
 * rs4986790(G) carriers are less likely to have heart attacks, in this study of ~400 individuals.
 * Individuals with the risk alleles for both SNPs have a lower incidence of carotid stenosis


 * Premature birth
 * Individuals with the risk alleles for both SNPs are at higher risk for having their pregnancies associated with premature birth.


 * Bacterial vaginosis
 * Pregnant rs4986790(G) carriers are at increased risk for higher pH and a 10 fold higher level of certain bacteria


 * Bacterial infection
 * Individuals with the risk alleles for both SNPs are more prone to gram-negative bacterial infections


 * Septic shock
 * Individuals with the risk alleles for both SNPs are at higher risk for septic shock


 * Respiratory syncytial virus infection
 * Individuals with the risk alleles for both SNPs are at higher risk for this type of viral infection.


 * Asthma
 * Although not seen to influence the incidence of developing asthma, rs4986790(G) carriers who had asthma are reported to be more severely affected.


 * Allograft rejection
 * Carriers of the risk alleles of either rs4986790 or rs4986791 have a lower rate of acute allograft rejection following lung transplantation.


 * Allograft complications
 * A study of 300+ recipients of hematopoietic-cell transplants concluded that the adjusted hazard ratio for a recipient of developing a life-threatening invasive aspergillosis infection was 6.16x higher (CI: 1.97-19.26, p=0.002) if the donor carried these TLR4 risk alleles. This risk was statistically significant for unrelated recipients of transplants (odds ratio, 5.0, CI: 1.04-24.01, p=0.04) but did not quite meet the p=0.05 significance criteria for related recipients (odds ratio, 2.29, CI: 0.93-5.68, p=0.07).