Genetic variant in MTRR A66G, but not MTR A2756G, is associated with risk of non-syndromic cleft lip and palate in Indian population

Jiao

Genetic Testing and Molecular Biomarkers

et al. 2016

Section: Introductionmentioning

confidence: 99%

MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate

Jiao

Genetic Testing and Molecular Biomarkers

et al. 2016

Section: Genotyping Of Vitamin D and Folate Genetic Variantsmentioning

confidence: 99%

“…Genotyping was undertaken via mixed PCR methods. The majority of variants were genotyped following previously outlined RFLP-PCR methods [35][36][37][38][39][40][41][42][43][44][45][46][47]; MTRR-rs1801394, MTR-rs1805087, MTHFR-rs1801133, MTHFR-rs1801131, SHMT-rs1979277 MTHFD1-rs2236225, RFC1-rs1051266, TYMS-rs11280056, GC-rs4588, CYP2R1-rs10741657, VDR-rs4516035, VDR-rs757343, VDR-rs2228570, VDR-rs731236, VDR-rs7975232, and VDR-rs1544410. Variants DHFR-rs70991108 and VDR-rs11568820 were assessed following allele-specific PCR [48,49], with TYMS-rs45445694 evaluated via PCR and gel electrophoresis [50].…”

Section: ; Mtrr-rs1801394 Mtr-rs1805087 Mthfr-rs1801133 Mthfr-rs18mentioning

confidence: 99%

Independent and Interactive Influences of Environmental UVR, Vitamin D Levels, and Folate Variant MTHFD1-rs2236225 on Homocysteine Levels

et al. 2020

Elevated homocysteine (Hcy) levels are a risk factor for vascular diseases. Recently, increases in ultraviolet radiation (UVR) have been linked to decreased Hcy levels. This relationship may be mediated by the status of UVR-responsive vitamins, vitamin D and folate, and/or genetic variants influencing their levels; however, this has yet to be examined. Therefore, the independent and interactive influences of environmental UVR, vitamin D and folate levels and related genetic variants on Hcy levels were examined in an elderly Australian cohort (n = 619). Red blood cell folate, 25-hydroxyvitamin D (25(OH)D), and plasma Hcy levels were determined, and genotyping for 21 folate and vitamin D-related variants was performed. Erythemal dose rate accumulated over six-weeks (6W-EDR) and four-months (4M-EDR) prior to clinics were calculated as a measure of environmental UVR. Multivariate analyses found interactions between 6W-EDR and 25(OH)D levels (pinteraction = 0.002), and 4M-EDR and MTHFD1-rs2236225 (pinteraction = 0.006) in predicting Hcy levels. The association between 6W-EDR and Hcy levels was found only in subjects within lower 25(OH)D quartiles (<33.26 ng/mL), with the association between 4M-EDR and Hcy occurring only in subjects carrying the MTHFD1-rs2236225 variant. 4M-EDR, 6W-EDR, and MTHFD1-rs2236225 were also independent predictors of Hcy. Findings highlight nutrient–environment and gene–environment interactions that could influence the risk of Hcy-related outcomes.

“…The MTR A2756G, MTRR A66G, MTHFR C677T and MTHFR A1298C polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism [9]. In addition, a recent study reported that the MTRR A66G polymorphism but not the MTR A2756G polymorphism may contribute to NSCLP in Indian populations [10]. The MTHFR C677T polymorphism is associated with the risk of NSCLP but not with other clefts in the craniofacial region of south Indian population.…”

Section: Introductionmentioning

confidence: 99%

Association of MTR, MTRR and MTHFR gene polymorphisms in Non-Syndromic Cleft Lip and Palate in Paediatric patients in Northern India

Arumugam

2021

ADOH

Non syndromic cleft lip and palate includes a wide spectrum of clinical variability from a simple unilateral lip scar to bilateral cleft lip and cleft palate. Folic acid can prevent the neural tube defects such as cleft lip and palate. Polymorphisms of the folate pathway genes causes disturbed activity of the key enzymes of folate metabolism which may be a contributing factor for the development of cleft lip and palate. Main enzymes of folate pathway such as methionine synthase, methionine synthase reductase and methylene tetrahydrofolate reductase are encoded by MTR, MTRR and MTHFR genes respectively. This research evaluates the association of MTR, MTRR and MTHFR gene polymorphisms in non-syndromic cleft lip and palate in northern Indian children.