Methylenetetrahydrofolate reductase C677T gene polymorphism and the association with dyslipidemia in type 2 diabetic Palestinian patients

Elqadi, Muawiyah; Eweidat, Khaled; Sabha, Mosa Abu; Yagmour, Asil; Sabarneh, Anas; Nasereddin, Abedelmajeed; Ereqat, Suheir

doi:10.1002/jcla.23994

Cited by 6 publications

(3 citation statements)

References 37 publications

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“…This pattern is most commonly associated with type 2 diabetes and may be a manageable risk factor for cardiovascular disease in the future. T2DM is a hereditary disease that affects people of different ethnicities in different ways (Elqadi et al, 2021). In our study, T2DM patients have normal levels of lipid profile and were found to be associated with LDLC and TC (p<0.0001), when compared with controls.…”

Section: Discussionmentioning

confidence: 49%

Influence of KCNQ1 and TCF7L2 genes associated with the role of type 2 diabetes

Alqadri¹,

Abdelmutalab²,

Abdelhafeez³

et al. 2022

Int. j. adv. appl. sci.

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T2DM is a long-term metabolic disorder characterized by either the pancreas' inability to produce enough insulin or the body's inability to properly utilize the insulin it produces. The β-cell function and blood glucose homeostasis are two areas where TCF7L2 (Transcription factor 7 like 2) appears to be a significant candidate gene. KCNQ1 (potassium voltage-gated channel subfamily, member 1 has been discovered as a T2DM susceptibility gene in Asian populations by genome-wide association studies with rs2237892 polymorphism and an increased risk of developing T2DM. The aim of this study was to investigate the association between rs7903146 and rs2237892 SNP studies in T2DM patients. In this study, 60 T2DM cases and 60 controls were selected. Genotyping was performed for rs7903146 and rs2237892 SNPs using specific primers and restriction enzymes, then all PCR products were loaded on an agarose gel stained with ethidium bromide. The current study results confirmed rs7903146 SNP was strongly associated with genotype (OR-4.14; 95%CI:1.07-15.98; p=0.02) and allele frequencies (OR-4.60; 95%CI:1.66-12.70; p=0.001) whereas in rs2237892 SNP was not associated with any of the genotypes (OR-4.29; 95%CI:0.46-39.58; p=0.16; OR-3.21) or allele frequencies (OR-6.26; 95%CI:0.74-52.83; p=0.055). The current study results were found to be associated with global studies carried out in rs7903146 and rs2237892 SNP. The strength of this current study was to involve Saudi nationalities and we have screened rs7903146 and rs2237892 SNPs which plays a major role in T2DM. Involving 60 T2DM cases/60 controls was the major limitation of this study. Missing validation through Sanger sequencing analysis was one of the limitations of this study. In conclusion, the current study results confirmed rs7903146 SNP was strongly associated with T2DM and rs2237892 SNP was not associated with T2DM patients.

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Section: Discussionmentioning

confidence: 49%

Influence of KCNQ1 and TCF7L2 genes associated with the role of type 2 diabetes

Alqadri¹,

Abdelmutalab²,

Abdelhafeez³

et al. 2022

Int. j. adv. appl. sci.

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“…Conversely, Elqadi et al , reported that in type 2 diabetic patients from Palestinian carriers of TT c + 677 genotype had lower CVD risk determinate by higher HDL-C levels and lower diastolic blood pressure compared to diabetic patient carriers of CT and CC + 677 genotypes. 37 These results could suggest that c.+677 C>T MTHFR genotypes could affect the CVD risk differently depending on pathology and genetic background of each population.…”

Section: Discussionmentioning

confidence: 90%

Association of c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) MTHFR genetic variants with cardiometabolic and disease risk in systemic lupus erythematosus patients: A cross-sectional study

Pesqueda-Cendejas,

Parra-Rojas,

Campos-López

et al. 2024

Lupus

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Systemic lupus erythematosus (SLE) patients present a high prevalence of cardiometabolic risk, associated with worse clinical manifestations and mortality. Folate, an essential micronutrient that participates in vital immune cellular functions, could positively affect the cardiometabolic and disease risk in SLE, through the methylenetetrahydrofolate reductase (MTHFR) enzyme, which participates in the folate metabolism, where single nucleotide variants (SNVs) have been described as a potential genetic risk factor for SLE. The aim of this study was to determine the association of the c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) MTHFR genetic variants with cardiometabolic risk and clinical disease variables in SLE patients. A case-control study was conducted on 394 unrelated Mexican-mestizo women: 199 with SLE according to the 1997 SLE-ACR criteria and 196 control subjects (CS). Folic acid and homocysteine levels were evaluated by immunoassays. Genotyping of MTHFR genetic variants was carried out by allelic discrimination. No significant differences were found for folic acid ( p = .15) and homocysteine serum levels ( p = .59) between groups. According to the CC c.+677 MTHFR genotype, this was associated with low cardiovascular disease (CVD) risk by the Castelli index (OR = 0.42; p = .03) in SLE patients. The TC (OR = 1.3; p = .03) and the TA (OR = 1.6; p < .01) haplotypes from c.+677 C>T plus c.+1298 MTHFR were associated with SLE risk, while the CC MTHFR haplotype (OR = 0.5; p = .01) was found as a non-risk factor for the disease. In conclusion, the TC and the TA MTHFR haplotypes are associated with disease risk; meanwhile, the CC c.+677 MTHFR genotype confers lower cardiometabolic risk in Mexican-mestizo SLE patients.

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“… 1 , 2 Although the pathophysiology of DM has not been fully elucidated, overwhelming evidence suggests that environmental, personal lifestyle, or nuclear genes mutations may influence T2DM pathogenesis. 3 , 4 Among these factors, some families are presented in maternally inherited pattern, indicating that mutations or variants in mitochondrial DNA (mtDNA) play critical roles in T2DM. 5 , 6 …”

Section: Introductionmentioning

confidence: 99%

Late onset of type 2 diabetes is associated with mitochondrial tRNA^Trp A5514G and tRNA^Ser(AGY) C12237T mutations

Yang

Guo

Leng

et al. 2021

Clinical Laboratory Analysis

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Background Mitochondrial dysfunctions caused by mitochondrial DNA (mtDNA) pathogenic mutations play putative roles in type 2 diabetes mellitus (T2DM) progression. But the underlying mechanism remains poorly understood. Methods A large Chinese family with maternally inherited diabetes and deafness (MIDD) underwent clinical, genetic, and molecular assessment. PCR and sequence analysis are carried out to detect mtDNA variants in affected family members, in addition, phylogenetic conservation analysis, haplogroup classification, and pathogenicity scoring system are performed. Moreover, the GJB2, GJB3, GJB6, and TRMU genes mutations are screened by PCR‐Sanger sequencing. Results Six of 18 matrilineal subjects manifested different clinical phenotypes of diabetes. The average age at onset of diabetic patients is 52 years. Screening for the entire mitochondrial genomes suggests the co‐existence of two possibly pathogenic mutations: tRNATrp A5514G and tRNASer(AGY) C12237T, which belongs to East Asia haplogroup G2a. By molecular level, m.A5514G mutation resides at acceptor stem of tRNATrp (position 3), which is critical for steady‐state level of tRNATrp. Conversely, m.C12237T mutation occurs in the variable region of tRNASer(AGY) (position 31), which creates a novel base‐pairing (11A‐31T). Thus, the mitochondrial dysfunctions caused by tRNATrp A5514G and tRNASer(AGY) C12237T mutations, may be associated with T2DM in this pedigree. But we do not find any functional mutations in those nuclear genes. Conclusion Our findings suggest that m.A5514G and m.C12337T mutations are associated with T2DM, screening for mt‐tRNA mutations is useful for molecular diagnosis and prevention of mitochondrial diabetes.

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Methylenetetrahydrofolate reductase C677T gene polymorphism and the association with dyslipidemia in type 2 diabetic Palestinian patients

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri bution-NonCo mmercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 6 publications

References 37 publications

Influence of KCNQ1 and TCF7L2 genes associated with the role of type 2 diabetes

Influence of KCNQ1 and TCF7L2 genes associated with the role of type 2 diabetes

Association of c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) MTHFR genetic variants with cardiometabolic and disease risk in systemic lupus erythematosus patients: A cross-sectional study

Late onset of type 2 diabetes is associated with mitochondrial tRNA^Trp A5514G and tRNA^Ser(AGY) C12237T mutations

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Methylenetetrahydrofolate reductase C677T gene polymorphism and the association with dyslipidemia in type 2 diabetic Palestinian patients

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri bution-NonCo mmercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 6 publications

References 37 publications

Influence of KCNQ1 and TCF7L2 genes associated with the role of type 2 diabetes

Influence of KCNQ1 and TCF7L2 genes associated with the role of type 2 diabetes

Association of c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) MTHFR genetic variants with cardiometabolic and disease risk in systemic lupus erythematosus patients: A cross-sectional study

Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations

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Late onset of type 2 diabetes is associated with mitochondrial tRNA^Trp A5514G and tRNA^Ser(AGY) C12237T mutations