The roles of MTHFR (C677T, A1298C) and MGP (G-7A, T-138C) gene variations in development of diabetic nephropathy in patients with type 2 diabetes mellitus

Ay, Arzu; Alkanlı, Nevra; Kurt, İdris; Üstündağ, Sedat; Sipahi, Tammam; Süt, Necdet

doi:10.1007/s40200-022-01061-9

“…In fact, these HHcy are related to ethnicity in that they are linked to diet, particularly folate deficiency [23,24]. Some studies have reported contradictory results, finding no link between the C677T mutation of the MTHFR gene and T2D [25,26].…”

Section: Sex and Agementioning

confidence: 99%

MTHFR Polymorphism in Congo Type 2 Diabetics: Prevalence of c.677CT and c.1298AC Mutations and Degenerative Complications

Ikia Monde,

Boumba,

Alarcan

et al. 2024

J Genet Genome Res

0

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Introduction: Type 2 diabetes (T2DM) is a multifactorial disease with serious complications, particularly degenerative. Currently, several genes have been identified in its pathogenesis, including the 5,10-methylene tetrahydrofolate reductase (MTHFR) gene with an association of the c.677C>T and c.1298A>C variants. The aim of this study was first to investigate the frequency of these variants in Congolese subjects with T2DM and to compare them with healthy controls. Secondly, to establish a correlation between these genotypes and the degenerative complications observed in T2DM patients. Material and methods:This was a prospective casecontrol study conducted over a two-year period. It involved 100 individuals with T2DM and 50 healthy, non-diabetic controls. The study method was based on DNA sequencing using the Sanger method, looking for the c.677CT and c.1298AC variants in the MTHFR gene. Results:In the DT2 group, the study identified heterozygous genotypes MTHFR1298AC in 18% of T2DM cases and MTHFR 677CT in 17% of cases. The homozygous MTHFR 1298CC genotype was detected in 2% of individuals. It should be noted that combinations of these two mutations were identified in some T2DM subjects, namely: (677CT; 1298AC) in 1% of cases and (677CC; 1298CC) in 2% of cases.In the control group, heterozygous genotypes MTHF R1298AC and MTHFR 677CT were identified in 6% and 4% of cases respectively. The difference was statistically significant (p = 0.024; p = 0.048).Degenerative complications (stroke, neuropathy, ischaemic heart disease) were observed in 58.8% (20/34) of T2DM carrying the mutation exclusively in the heterozygous MTHFR 677CT form and in 44.1% (15/34) of T2DM carrying the mutation exclusively in the heterozygous MTHFR 1298AC form. Conclusion:The c.677C>T and c.1298A>C variations of the MTHFR gene, identified in Congolese subjects with type 2 diabetes, could be predisposing factors for type 2 diabetes. A combination of these two variants would more often lead to degenerative complications.

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“…In fact, these HHcy are related to ethnicity in that they are linked to diet, particularly folate deficiency [23,24]. Some studies have reported contradictory results, finding no link between the C677T mutation of the MTHFR gene and T2D [25,26].…”

Section: Sex and Agementioning

confidence: 99%

Untitled

2024

J Genet Genome Res

0

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Introduction: Type 2 diabetes (T2DM) is a multifactorial disease with serious complications, particularly degenerative. Currently, several genes have been identified in its pathogenesis, including the 5,10-methylene tetrahydrofolate reductase (MTHFR) gene with an association of the c.677C>T and c.1298A>C variants. The aim of this study was first to investigate the frequency of these variants in Congolese subjects with T2DM and to compare them with healthy controls. Secondly, to establish a correlation between these genotypes and the degenerative complications observed in T2DM patients. Material and methods:This was a prospective casecontrol study conducted over a two-year period. It involved 100 individuals with T2DM and 50 healthy, non-diabetic controls. The study method was based on DNA sequencing using the Sanger method, looking for the c.677CT and c.1298AC variants in the MTHFR gene. Results:In the DT2 group, the study identified heterozygous genotypes MTHFR1298AC in 18% of T2DM cases and MTHFR 677CT in 17% of cases. The homozygous MTHFR 1298CC genotype was detected in 2% of individuals. It should be noted that combinations of these two mutations were identified in some T2DM subjects, namely: (677CT; 1298AC) in 1% of cases and (677CC; 1298CC) in 2% of cases.In the control group, heterozygous genotypes MTHF R1298AC and MTHFR 677CT were identified in 6% and 4% of cases respectively. The difference was statistically significant (p = 0.024; p = 0.048).Degenerative complications (stroke, neuropathy, ischaemic heart disease) were observed in 58.8% (20/34) of T2DM carrying the mutation exclusively in the heterozygous MTHFR 677CT form and in 44.1% (15/34) of T2DM carrying the mutation exclusively in the heterozygous MTHFR 1298AC form. Conclusion:The c.677C>T and c.1298A>C variations of the MTHFR gene, identified in Congolese subjects with type 2 diabetes, could be predisposing factors for type 2 diabetes. A combination of these two variants would more often lead to degenerative complications.

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“…When this gene polymorphism occurs, it may lead to reduced or impaired MTHFR enzyme activity, disrupted folate metabolism, and elevated Hcy levels and consequently result in related complications (10)(11)(12)(13). Some studies have demonstrated that the MTHFR gene C677T polymorphism is closely related to the risk of diabetes mellitus (DM) (14,15). Some investigators also revealed that the C-T mutation in the MTHFR C677T gene might lead to increased susceptibility to GDM (16,17).…”

Section: Introductionmentioning

confidence: 99%

Association between MTHFR gene C677T polymorphism and gestational diabetes mellitus in Chinese population: a meta-analysis

Tan,

Chen

2023

Front. Endocrinol.

4

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Background and purposeThe relationship of the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with the incidence of gestational diabetes mellitus (GDM) in the Chinese population remains controversial. This study aimed to further clarify the effect of the MTHFR gene C677T polymorphism on GDM risk among Chinese pregnant women based on current evidence.MethodsSeveral databases were searched up to July 29, 2023 for relevant case-control studies. The numbers of patients with and without the T allele of the MTHFR gene C677T polymorphism in the GDM and control groups were determined, and all statistical analyses were performed by RevMan 5.3 software and STATA 15.0 software. Trial sequential analysis (TSA) was performed by TSA version 0.9 beta software to determine the required information size.ResultsA total of 17 case-control studies involving 12345 Chinese participants were included. The pooled results demonstrated that the T allele of the MTHFR gene C677T polymorphism was significantly associated with an increased risk of GDM, which was manifested by the five gene models of the MTHFR C677T polymorphism [T vs. C: odds ratio (OR)=1.59, P=0.03; TT vs. CC: OR=2.24, P<0.001; TC vs. CC: OR=1.28, P=0.05; (TT+TC) vs. CC: OR=1.55, P=0.003; TT vs. (TC+CC): OR=1.89, P<0.001]. Subgroup analysis based on the regions indicated that the significant relationship between the T allele of the MTHFR gene C677T polymorphism and an increased risk of GDM was detected only among the southern population [T vs. C: OR=1.62, P=0.09; TT vs. CC: OR=2.22, P=0.004; TC vs. CC: OR=1.17, P=0.28; (TT+TC) vs. CC: OR=1.43, P=0.03; TT vs. (TC+CC): OR=1.97, P=0.006]. TSA plots showed that the information sizes for the association between the MTHFR gene C677T polymorphism and GDM risk were sufficient in the homozygote (TT vs. CC) and recessive (TT vs. TC+CC) models.ConclusionThe MTHFR gene C677T polymorphism is closely related to susceptibility to GDM in the southern Chinese population, and the C-T mutation serves as an important genetic risk factor for GDM. More well-designed large case-control studies are needed to further confirm the above findings.

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The roles of MTHFR (C677T, A1298C) and MGP (G-7A, T-138C) gene variations in development of diabetic nephropathy in patients with type 2 diabetes mellitus

Cited by 5 publications

References 25 publications

MTHFR Polymorphism in Congo Type 2 Diabetics: Prevalence of c.677CT and c.1298AC Mutations and Degenerative Complications

MTHFR Polymorphism in Congo Type 2 Diabetics: Prevalence of c.677CT and c.1298AC Mutations and Degenerative Complications

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Association between MTHFR gene C677T polymorphism and gestational diabetes mellitus in Chinese population: a meta-analysis

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