rs17580(T;T)
From SNPedia
| a slightly reduced functionality form of Alpha-1 Antitrypsin Deficiency |
| Is a | genotype |
| of | rs17580 |
| Gene | SERPINA1 |
| Chromosome | 14 |
| Position | 94,380,925 |
| mentioned | by |
| Magnitude | 2.5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;T) | 2.3 | Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency |
| (T;T) | 2.5 | a slightly reduced functionality form of Alpha-1 Antitrypsin Deficiency |
This variant represents carrying two copies of the PiS variant in alpha-1-antitrypsin deficiency with 60% enzymatic activity. No direct correlation with liver disease according to Liver Disease in Alpha 1-Antitrypsin Deficiency: A Review and no increased risk of emphysema according to [1].
This is a genotype with recommended actions if clinically confirmed. In brief:
- Consider getting tested for A1AT deficiency.
- Avoid smoking (and smoke) to reduce COPD risk.
- Be aware of liver disease potential and need for monitoring; minimize alcohol consumption.
- Reduce exposure to dust, fumes, gases and air pollutants if possible.
- Those positive for A1AT deficiency should inform their relatives, especially siblings whose risk of A1AT deficiency is 25%.
The full ClinGen Actionability report about A1AT deficiency can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
