Rs4986790

rs4986790, a SNP also known as Asp299Gly (and also 896A/G) in the TLR4 gene, is often studied along with a cosegregating SNP known as Thr399Ile, rs4986791. (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 rs4986790 is (G).

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 have a higher incidence 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.


 * Alzheimer's disease
 * A study of 626 Northern Italian Alzheimer patients (427 women and 199 men; age range: 53-98 years; mean age: 74.88 +/- 8.44) found that rs4986790 was associated with increased risk for the disease.


 * cirrhosis rs4986790 and rs4986791

Results of three independent samples did not confirm previously reported association of rs4986790 with AMD, individually or combined.