Literature DB >> 31749428

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

Imadeldin Elfaki1, Rashid Mir2, Faisel M Abu-Duhier2, Roaid Khan3, Mohammed Sakran1.   

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. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.

Entities:  

Keywords:  Glu545Lys (rs104886003); His1047Tyr (rs121913281); Mutations; Phosphatidylinositol 3-kinase; Single Nucleotide Polymorphism; Type 2 Diabetes; insulin resistance

Year:  2019        PMID: 31749428     DOI: 10.2174/1573399815666191015142201

Source DB:  PubMed          Journal:  Curr Diabetes Rev        ISSN: 1573-3998


  2 in total

Review 1.  Potential Impact of MicroRNA Gene Polymorphisms in the Pathogenesis of Diabetes and Atherosclerotic Cardiovascular Disease.

Authors:  Imadeldin Elfaki; Rashid Mir; Mohammad Muzaffar Mir; Faisel M AbuDuhier; Abdullatif Taha Babakr; Jameel Barnawi
Journal:  J Pers Med       Date:  2019-11-25

2.  Clinical Implications of MiR128, Angiotensin I Converting Enzyme and Vascular Endothelial Growth Factor Gene Abnormalities and Their Association with T2D.

Authors:  Imadeldin Elfaki; Rashid Mir; Faisel M Abu Duhier; Maeidh A Alotaibi; Adel Ibrahim Alalawy; Jameel Barnawi; Abdullatif Taha Babakr; Mohammad Muzaffar Mir; Faris Altayeb; Hyder Mirghani; Ehab A M Frah
Journal:  Curr Issues Mol Biol       Date:  2021-11-02       Impact factor: 2.976

  2 in total

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