Rs1042714

Several susceptibilities have been linked to rs1042714, a SNP in the ADRB2 gene that is also known as the Q27E SNP. The rs1042714(C) allele encodes the glutamine (Gln; "Q"), and the rs1042714(G) allele encodes the glutamic acid (Glu; "E").

A study of 304 patients found that the Glu27 allele led to increased risk for idiopathic venous thromboembolism; the reported odds ratio was 1.40 (CI: 1.09-1.79, p=0.006) for carriers of at least one risk allele.

A study of 334 families with at least one child with autism found that increased risk associated with the rs1042714(G;G) homozygous genotype; the odds ratio reported was between 1.33-1.60 (CI: 1.07-2.58). The risk was approximately doubled among mothers who had clinical markers for pregnancy related stress.

In a study of 342 patients with type-2 diabetes, the rs1042714(G;G) genotype was associated with reduced risk compared to carriers of a rs1042714(C) allele, with an odds ratio of 0.56 (CI: 0.36-0.91).

A study of 294 Italian ischemic stroke patients found increased risk associated with the rs1042714(G;G) genotype, with an odds ratio of 1.68 (CI: 1.17-2.41, p=0.005).

A large study of almost 8,000 patients found no consistent evidence for association with obesity, type-2 diabetes or hypertension, however, there was some association between the rs1042714(G) allele and systolic blood pressure.

Among 215 adults treated with topical beta-blockers to reduce intraocular pressure (IOP), rs1042714(C;C) genotypes were significantly more likely to experience a (desirable) IOP decrease of 20% or more (odds ratio 2.00, CI: 1.00-4.02).