From SNPedia
rs1042713, also known as Arg16, G16R, and 16Arg>Gly, is a SNP in the adrenergic, beta-2-, surface receptor
ADRB2 gene. The
rs1042713(G) allele encodes the G/glycine form that is the more common one in most populations, while
rs1042713(A) encodes the R/arginine residue at this position of the ADRB2 protein.
A study of 1,182 young Scottish asthma patients (age, 3-22 years) concluded that rs1042713(A) alleles are significantly associated with "exacerbations" of their condition, regardless of treatment regimens (odds ratio 1.30, CI: 1.09-1.55, p=0.003). This didn't hold true for patients using inhalers less than once per day; and it was particularly true for those receiving daily inhaled long- or short-acting beta(2)-agonist treatment (OR, 1.64, CI: 1.22-2.20, p=.001). This may therefore indicate that regular inhalant use of albuterol (found in Ventolin) or long-acting agonists, such as salbumatol found in Advair, may be counter-productive in young asthma patients carrying one or especially two rs1042713(A) alleles.[PMID 19800676]
| Venter snp
|
| Source
| plos
|
| Gene
| ADRB2
|
| allele
| A
|
| frequency
| 0.325
|
| sift
| TOLERATED
|
| HuRef
| 1103654253727
|
| Disease Association
| Polymorphic forms of ADRB2 could impart some form of nocturnal asthma.
|
| ? | (A;A) (A;G) (G;G) |
|---|
 |
[PMID 18647184] Association between polymorphisms in the beta2-adrenoceptor gene and migraine in women
[PMID 19553224] Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance
[PMID 19565482] Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains
