| Geno
|
Mag
|
Summary
|
| (-;-)
|
0
|
common/normal
|
| (-;TA)
|
7.7
|
Reported to increase lifespan and reduce diabetes risk
|
| (TA;TA)
|
6
|
Bleeding disorders and related complications possible
|
Located on chromosome 7, and more commonly known in the literature as the c.699_700dupTA mutation, this rare variant represents a loss-of-function mutation in the SERPINE1 gene encoding the protein plasminogen activator inhibitor 1 (PAI-1). Other names include c.697_698TA and c.697_698dupTA.
An individual inheriting two such mutations will lack PAI-1, and if untreated, complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild to moderate bleeding and related medical issues.GeneReviews
In a Berne Amish cohort, heterozygotes for this mutation, who may less PAI-1 but not none, appear to live longer (by ~10 years). These individuals appear to have lower fasting insulin levels, and lower prevalence of diabetes mellitus as well, compared to the common homozygotes.[PMID 29152572
]
]
