PMID- 38345973
OWN - NLM
STAT- MEDLINE
DCOM- 20240214
LR  - 20240214
IS  - 1433-6510 (Print)
IS  - 1433-6510 (Linking)
VI  - 70
IP  - 2
DP  - 2024 Feb 1
TI  - Common Genetic Variants in SIRT1 Gene Promoter and Type 2 Diabetes Mellitus in 
      Saudi Arabia.
LID - 10.7754/Clin.Lab.2023.230804 [doi]
AB  - BACKGROUND: Type 2 diabetes mellitus (T2DM) is common in Saudi Arabia and 
      represents a major health concern. Silent information regulator of 
      transcription-1 (SIRT1) positively influences insulin sensitivity and might 
      contribute to the pathogenesis of T2DM. This study aimed to investigate the 
      frequency of two common functional single nucleotide polymorphisms (SNPs) in the 
      promoter region of SIRT1; rs12778366 (T>C) and rs3758391 (T>C) in Saudi Arabian 
      population and examine any association with T2DM. METHODS: A total of 445 
      volunteers were divided into 224 healthy controls and 221 patients previously 
      diagnosed with T2DM. Genomic DNA was extracted from all samples and genotyped for 
      SIRT1 rs12778366 and rs3758391 SNPs by TaqMan RT-PCR allelic discrimination 
      assay. Logistic regression analysis was used to establish any relationship 
      between these polymorphisms and T2DM. RESULTS: In the total study population, 
      rs12778366 genotype frequencies were TT (89.2%), TC (10.3%), and CC (0.45%) and 
      for the rs3758391 they were TT (16.4%), TC (44.5%), and CC (39.1%). The 
      distribution of these genotypes, in both polymorphisms, were similar among T2DM 
      and controls. Logistic regression analysis confirmed the lack of association 
      between the presence of CC or CT variants and T2DM for rs12778366 and rs3758391 
      SNP (OR = 0.98 [CI]: 0.55 - 1.75; p = 0.999 and OR= 0.75; [CI]: 0.45 - 1.24; p = 
      0.313), respectively. CONCLUSIONS: This study revealed the frequency of SIRT1 
      rs12778366 and rs3758391 SNPs in our population and reported no association 
      between these polymorphisms and the risk for T2DM. This finding might add to the 
      growing body of literature exploring the genetics of T2DM.
FAU - Kaabi, Yahia A
AU  - Kaabi YA
FAU - Abdelmola, Ammar A
AU  - Abdelmola AA
FAU - Abdelwahab, Siddig I
AU  - Abdelwahab SI
FAU - Alshaikh, Nahla A
AU  - Alshaikh NA
FAU - Halawi, Mustafa A
AU  - Halawi MA
FAU - Kuriri, Hadi M
AU  - Kuriri HM
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Clin Lab
JT  - Clinical laboratory
JID - 9705611
RN  - EC 3.5.1.- (Sirtuin 1)
RN  - EC 3.5.1.- (SIRT1 protein, human)
SB  - IM
MH  - Humans
MH  - Saudi Arabia/epidemiology
MH  - *Sirtuin 1/genetics
MH  - *Diabetes Mellitus, Type 2/diagnosis/epidemiology/genetics
MH  - Genotype
MH  - Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic/genetics
MH  - Genetic Predisposition to Disease/genetics
MH  - Case-Control Studies
MH  - Gene Frequency
EDAT- 2024/02/12 18:42
MHDA- 2024/02/12 18:43
CRDT- 2024/02/12 13:16
PHST- 2024/02/12 18:43 [medline]
PHST- 2024/02/12 18:42 [pubmed]
PHST- 2024/02/12 13:16 [entrez]
AID - 10.7754/Clin.Lab.2023.230804 [doi]
PST - ppublish
SO  - Clin Lab. 2024 Feb 1;70(2). doi: 10.7754/Clin.Lab.2023.230804.