Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip

Shotelersuk, Varote; Ittiwut, Chupong; Siriwan, Pichit; Angspatt, Apichai

doi:10.1136/jmg.40.5.e64

Cited by 55 publications

(53 citation statements)

References 27 publications

(22 reference statements)

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“…Results of several association studies have been contradictory, which may be due to different analytic strategies, specifically whether the analysis focused on the proband or maternal genotype [58]. Alternately, assuming that MTHFR is not sufficient but necessary to cause CL/P, analytical strategies that consider the simultaneous effects of different loci or that take into account environmental covariates may be more powerful for detecting the relation between MTHFR and CL/P [61]. For example, functional RFC1 and MTHFR variants in probands revealed no association with CL/P in a South American population [62].…”

Section: Genes In Environmental Pathwaysmentioning

confidence: 99%

Progress toward discerning the genetics of cleft lip

Lidral

Moreno

2005

Current Opinion in Pediatrics

110

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Purpose of review-Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate.Recent findings-The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described.Summary-With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene-environment and gene-gene interactions to provide knowledge for risk counseling and the development of preventive therapies.

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Section: Genes In Environmental Pathwaysmentioning

confidence: 99%

Progress toward discerning the genetics of cleft lip

Lidral

Moreno

2005

Current Opinion in Pediatrics

110

View full text Add to dashboard Cite

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“…The genotype and allele distributions are as shown in Table 2. Only in four studies (Shoteresuk et al, 2003;van Roij et al, 2003;SemicJusufagic et al, 2012;Kumari et al, 2013), OR was above one and in other seven studies did not show any association between MTHFR A1298C polymorphism and OFC. The distribution of genotypes in the control groups were in Hardy-Weinberg equilibrium (HWE) in all studies.…”

Section: Discussionmentioning

confidence: 99%

“…Eleven articles were found to be eligible for the inclusion in the present meta-analysis Grunert et al, 2002;Shoteresuk et al, 2003;van Roij et al, 2003;Pezzetti et al, 2004;Mills et al, 2008;Ali et al, 2009;Sozen et al, 2009;Chorna et al, 2011;SemicJusufagic et al, 2012;Kumari et al, 2013). All these eleven studies were performed in different countries: Argentina , Germany (Grunert et al, 2002), India (Ali et al, 2009;Kumari et al, 2013), Ireland (Mills et al, 2008), Italy (Pezzetti et al, 2004), Netherlands (van Roij et al, 2003), Thailand (Shoteresuk et al, 2003), Ukraine (Chorna et al, 2011), and Venezuela (Sozen et al, 2009).…”

Section: Eligible Studiesmentioning

confidence: 99%

“…All these eleven studies were performed in different countries: Argentina , Germany (Grunert et al, 2002), India (Ali et al, 2009;Kumari et al, 2013), Ireland (Mills et al, 2008), Italy (Pezzetti et al, 2004), Netherlands (van Roij et al, 2003), Thailand (Shoteresuk et al, 2003), Ukraine (Chorna et al, 2011), and Venezuela (Sozen et al, 2009). In one study, Ali et al (2009) reported only allele numbers (Table 1).…”

Section: Eligible Studiesmentioning

confidence: 99%

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Meta-analysis of methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and risk of orofacial cleft

Rai¹

2014

J. Med. Genet. Genomics

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“…27 The known variant p.Ala222Val leads to lowered enzyme activity, which was found in a significantly higher proportion of mothers of children with a cleft lip and without cleft palate. 15,16 ApoE is one possible component of the maternal-embryonal cholesterol transport system. ApoE is a ligand involved in the transport and receptor-mediated uptake of lipoproteins by various cell types, as well as a participant in processes as distinct as lymphocyte activation, cholesterol homeostasis in macrophages, and neuronal plasticity.…”

Section: Introductionmentioning

confidence: 99%

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

et al. 2012

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The Smith-Lemli-Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity. SLOS is caused by mutations in the D7sterol-reductase gene (DHCR7), which disrupt cholesterol biosynthesis. Phenotypic variability of the disease is already known to be associated with maternal apolipoprotein E (ApoE) genotype. The aim of this study was to detect additional modifiers of the SLOS phenotype. We examined the association of SLOS severity with variants in the genes for ApoC-III, lecithin-cholesterol acyltransferase, cholesteryl-ester transfer protein, ATP-binding cassette transporter A1 (ABCA1), and methylene tetrahydrofolate reductase. Our study group included 59 SLOS patients, their mothers, and 49 of their fathers. In addition, we investigated whether ApoE and ABCA1 genotypes are associated with the viability of severe SLOS cases (n ¼ 21) caused by two null mutations in the DHCR7 gene. Maternal ABCA1 genotypes show a highly significant correlation with clinical severity in SLOS patients (P ¼ 0.007). The rare maternal p.1587Lys allele in the ABCA1 gene was associated with milder phenotypes. ANOVA analysis demonstrated an association of maternal ABCA1 genotypes with severity scores (logarithmised) of SLOS patients of P ¼ 0.004. Maternal ABCA1 explains 15.4% (R 2 ) of severity of SLOS patients. There was no association between maternal ApoE genotype and survival of the SLOS fetus carrying two null mutations. Regarding ABCA1 p.Arg1587Lys in mothers of latter SLOS cases, a significant deviation from HardyWeinberg equilibrium (HWE) was observed (P ¼ 0.005). ABCA1 is an additional genetic modifier in SLOS. Modifying placental cholesterol transfer pathways may be an approach for prenatal therapy of SLOS.

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Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip

Cited by 55 publications

References 27 publications

Progress toward discerning the genetics of cleft lip

Progress toward discerning the genetics of cleft lip

Meta-analysis of methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and risk of orofacial cleft

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

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