124040.G.2

Country

Lebanon

HPO Terms

Abnormal circulating lipid concentration; Hypertension; Stroke; Diabetes mellitus

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
CYP2E1*6 Allele NM_000773.4:c.967+1143T>A			Coronary Heart Disease, Susceptibility to, 1
CYP2E1*5B Allele NM_000773.3:c.[-1295G>C;-1055C>T]			Coronary Heart Disease, Susceptibility to, 1

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Remarks

Among 231 patients with morbid diseases, 19 patients exhibited at least the CYP2E1*6 in addition to CYP2E1*5B polymorphisms. In addition to the described diseases, smoking and alcohol intake was also considered. No associations identified. See 607339.G.4

References

Zgheib et al. 2010