Association of Methylenetetrahydrofolate Reductase Gene C677T Polymorphism with Multiple Sclerosis in Turkish Patients

Çevik, Betül; Yığıt, Serbülent; Karakuş, Nevin; Aksoy, Dürdane; Kurt, Semiha; Ateş, Ömer

doi:10.1097/jim.0000000000000107

Cited by 10 publications

(6 citation statements)

References 29 publications

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“…Yang et al (2014) also reported in a meta-analysis a good association of MTHFR C677T mutation with the risk of hypertension between Asians, Chinese, and Caucasians subjects. Similar findings were obtained in the population of Turkey (Cevik et al, 2014). On the other hand, many authors reported that MTHFR C677T polymorphism was independent factor of essential hypertension in different ethnic populations (Ilhan et al, 2008;Heux et al, 2004;Qian et al, 2007) as well as of diastolic hypertension manifested in pregnant women (Kosmas et al, 2004).…”

Section: Resultssupporting

confidence: 67%

“…MTHFR gene has been studied more frequently in relation to homocysteine and folate metabolism, with regard to a variety of disorders including CVD and Hypertension (Javed et al, 2012). MTHFR and the hypertension risk have been discussed by several investigators with conflicting results (Ilhan et al, 2008;Cevik et al, 2014;Heux et al, 2004;Qian et al, 2007;Kosmas et al, 2004;Yang et al, 2014;Markan et al, 2007). Many previous studies have implicated that the MTHFR vari-ants C677T and A1298C have been a risk factor for Essential Hypertension (Ilhan et al, 2008).…”

Section: Resultsmentioning

confidence: 99%

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Association of MTHFR (C677t) and Ace (I/D) Polymorphisms With Hypertension and Response to Treatment Among Egyptian Patients

Shafik

Hemida

Seif-El-Nasr³

et al. 2016

Egyptian Journal of Genetics and Cytology

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Section: Resultssupporting

confidence: 67%

Section: Resultsmentioning

confidence: 99%

Association of MTHFR (C677t) and Ace (I/D) Polymorphisms With Hypertension and Response to Treatment Among Egyptian Patients

Shafik

Hemida

Seif-El-Nasr³

et al. 2016

Egyptian Journal of Genetics and Cytology

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“…SAM methylates MBP at arginine sites within the protein, which protects MBP against degradation and is hence important for maintaining the integrity of the myelin sheath [ 46 ]. Common genetic variants in MTHFR have already been associated with the risk for MS development in multiple populations [ 47 , 48 , 49 , 50 ]. PLK1 also inhibits the protein complex MTORC1, which in turn is an important positive regulator of (re)myelination by ODCs [ 51 , 52 ].…”

Section: Discussionmentioning

confidence: 99%

Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis

Horjus

Mourik-Banda

Heerings

et al. 2022

IJMS

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Multiple sclerosis (MS) is a degenerative disease of the central nervous system in which auto-immunity-induced demyelination occurs. MS is thought to be caused by a complex interplay of environmental and genetic risk factors. While most genetic studies have focused on identifying common genetic variants for MS through genome-wide association studies, the objective of the present study was to identify rare genetic variants contributing to MS susceptibility. We used whole exome sequencing (WES) followed by co-segregation analyses in nine multi-incident families with two to four affected individuals. WES was performed in 31 family members with and without MS. After applying a suite of selection criteria, co-segregation analyses for a number of rare variants selected from the WES results were performed, adding 24 family members. This approach resulted in 12 exonic rare variants that showed acceptable co-segregation with MS within the nine families, implicating the genes MBP, PLK1, MECP2, MTMR7, TOX3, CPT1A, SORCS1, TRIM66, ITPR3, TTC28, CACNA1F, and PRAM1. Of these, three genes (MBP, MECP2, and CPT1A) have been previously reported as carrying MS-related rare variants. Six additional genes (MTMR7, TOX3, SORCS1, ITPR3, TTC28, and PRAM1) have also been implicated in MS through common genetic variants. The proteins encoded by all twelve genes containing rare variants interact in a molecular framework that points to biological processes involved in (de-/re-)myelination and auto-immunity. Our approach provides clues to possible molecular mechanisms underlying MS that should be studied further in cellular and/or animal models.

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“…SAM methylates MBP at arginine sites within the protein, which protects MBP against degradation and is hence important for maintaining the integrity of the myelin sheath 51 . Common genetic variants in MTHFR have already been associated with the risk for MS development in multiple populations [52][53][54][55] . PLK1 also inhibits the protein complex MTORC1, which in turn is an important positive regulator of (re)myelination by ODCs 56,57 .…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing in multi-incident families identifies novel candidate genes for multiple sclerosis

Horjus

Banda

Heerings

et al. 2022

Preprint

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Multiple sclerosis (MS) is a degenerative disease of the central nervous system in which auto-immunity-induced demyelination occurs. MS is thought to be caused by a complex interplay of environmental and genetic risk factors. While most genetic studies have focused on identifying common genetic variants for MS through genome-wide association studies, the objective of the present study was to identify rare genetic variants contributing to MS susceptibility. We used whole exome sequencing (WES) followed by co-segregation analyses in nine multi-incident families with 2 to 4 affected individuals. WES was performed in 31 family members with and without MS. After applying a suite of selection criteria, co-segregation analyses for a number of rare variants selected from the WES results were performed, adding 24 family members. This approach resulted in 12 exonic rare variants that showed acceptable co-segregation with MS within the nine families, implicating the genes MBP, PLK1, MECP2, MTMR7, TOX3, CPT1A, SORCS1, TRIM66, ITPR3, TTC28, CACNA1F, and PRAM1. Of these, three genes (MBP, MECP2, and CPT1A) have been previously reported as carrying MS-related rare variants. Six additional genes (MTMR7, TOX3, SORCS1, ITPR3, TTC28, and PRAM1) have also been implicated in MS through common genetic variants. The proteins encoded by all twelve genes containing rare variants interact in a molecular framework that points to biological processes involved in (de-/re-)myelination and auto-immunity. Our approach provides clues to possible molecular mechanisms underlying MS that should be further studied in cellular and/or animal models.

show abstract

Association of Methylenetetrahydrofolate Reductase Gene C677T Polymorphism with Multiple Sclerosis in Turkish Patients

Abstract: These results showed that T allele of C677T polymorphism was associated with MS susceptibility in Turkish population.

Cited by 10 publications

References 29 publications

Association of MTHFR (C677t) and Ace (I/D) Polymorphisms With Hypertension and Response to Treatment Among Egyptian Patients

Association of MTHFR (C677t) and Ace (I/D) Polymorphisms With Hypertension and Response to Treatment Among Egyptian Patients

Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis

Whole exome sequencing in multi-incident families identifies novel candidate genes for multiple sclerosis

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