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Phosphatidylinositol 3-kinase Glu545Lys and His1047Tyr Mutations are not Associated with T2D

Author(s):

Imadeldin Elfaki*, Rashid Mir, Faisel M. Abu-Duhier, Roaid Khan and Mohammed Sakran   Pages 1 - 8 ( 8 )

Abstract:


Background: Insulin resistance initiated in peripheral tissues induces type 2 diabetes (T2D). It occurs when insulin signaling is impaired.

Introduction: Phosphatidylinositol 3-kinases (PI3K) are important for insulin signaling. Single nucleotide polymorphisms of the PI3K gene have been associated with T2D.

Method: We have investigated the association of Glu545Lys and His1047Tyr mutations of phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene with T2D. We have screened 103 T2D patients and 132 controls for Glu545Lys mutation, and 101 T2D patients and 103 controls for the His1047Tyr mutation from a Saudi cohort using AS-PCR.

Result:Our results indicated that there is no association between the GA genotype of rs104886003 (Glu545Lys) and T2D, OR= 0.15 (95% CI: 0.007-3.28), RR= 0.29(0.02-3.72), P value= 0.23. The A allele is also not associated with T2D diabetes, OR= 1.01(95% CI: 0.70-1.46), RR=1.00(0.85-1.18), P value=0.91. Results showed that CT genotype of rs121913281 (His1047Tyr) was not associated with T2D, OR=0.94(95% CI: 0.23-3.9), RR= 0.97(0.48-1.97), P-value = 0.94, and T allele was also not associated with T2D, OR=1.06 (95% CI: 0.71-1.56), RR= 1.02(0.84-1.24), P-value =0.76.

Conclusion:We conclude that the A allele of rs104886003 may not be associated with T2D. The T allele of rs121913281 may also not associated with T2D. However, future studies with larger sample sizes and in different populations are recommended.

Keywords:

Phosphatidylinositol 3-kinase, type 2 diabetes, Glu545Lys (rs104886003), His1047Tyr (rs121913281), single nucleotide polymorphism, insulin resistance, mutations

Affiliation:

Department of Biochemistry, Faculty of Science, University of Tabuk, Prince Fahd Bin Sultan Research Chair (PFBSRC), Faculty of Applied Medical Sciences, Medical Laboratory Technology Department, University of Tabuk, Tabuk, Prince Fahd Bin Sultan Research Chair (PFBSRC), Faculty of Applied Medical Sciences, Medical Laboratory Technology Department, University of Tabuk, Tabuk, Department of Endocrinology, King Salman Armed Forces Hospital, Tabuk, Department of Biochemistry, Faculty of Science, University of Tabuk



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