rs11190179 - NKX2-3 - SLC25A28

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain. - Journal of thrombosis and haemostasis : JTH (2013) · Athanasiadis G, Sabater-Lleal M, Buil A, Souto JC, Borrell M, Lathrop M, Watkins H, Almasy L, Hamsten A, Soria JM · PubMed 23279374

  β2 -Glycoprotein I (β2 -GPI), also designated apolipoprotein H, is a 50-kDa protein that circulates in blood at high concentrations, playing important roles in autoimmune diseases, hemostasis, atherogenesis, and angiogenesis, as well as in host defense against bacteria and in protein/cellular waste removal. Plasma β2 -GPI levels have a significant genetic component (heritability of ~ 80%). To present the results of a genome-wide association study for plasma β2 -GPI levels in a set of extended pedigrees from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project. A total of 306 individuals for whom β2 -GPI plasma measurements were available were typed for 307,984 single-nucleotide polymorphisms (SNPs) with the Infinium 317k Beadchip (Illumina). Association with the β2 -GPI ph

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