Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

Rampersaud, Evadnie; Bassuk, Alexander G.; Enterline, David S.; George, Timothy M.; Siegel, Deborah G.; Melvin, Elizabeth C.; Aben, Joanna; Allen, Jason D.; Aylsworth, Arthur S.; Brei, Timothy J.; Bodurtha, Joann; Buran, Connie; Floyd, L. E.; Hammock, Preston; Iskandar, Bermans; Ito, Joy; Kessler, John A.; Lasarsky, Nicole; Mack, Philip W.; Mackey, Joanne; McLone, David G.; Meeropol, Elli; Mehltretter, Lorraine; Mitchell, Laura E.; Oakes, W. Jerry; Nye, Jeffrey S.; Powell, Cynthia M.; Sawin, Kathleen J.; Stevenson, Roger E.; Walker, Marion L.; West, Sandra G.; Worley, Gordon; Gilbert, John R.; Speer, Marcy C.

doi:10.1136/jmg.2005.031658

Cited by 38 publications

(30 citation statements)

References 35 publications

(22 reference statements)

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“…The phenotypes in this human linkage study included various NTDs: mainly lumbosacral level myelomeningocele (spina bifida), but also including anencephaly and craniorachischisis (33). The fact the Sp and shrm mutations on an FVB/N background showed effects on penetrance of spina bifida rather than just exencephaly adds further evidence that the murine chromosome 19 modifier locus may be the same as the human 10q25.3 susceptibility locus.…”

Section: Discussionmentioning

confidence: 85%

“…The effects of the FVB/N strain on spina bifida suggest that the modifiers act on neurulation in general rather than specifically on cranial neurulation. This is particularly interesting as the chromosome 19 region mapped in this study is syntenic to the chromosome 10q25.3 region mapped in the whole genome screen for human NTDs (33), suggesting that the same gene may underlie the susceptibility to NTDs in both species.…”

mentioning

confidence: 73%

“…Although most genes associated with NTDs in mice have not shown an association with human NTDs, the linkage peak on chromosome 19 corresponds to one of the two major linkage peaks mapped in a whole genome scan for association with human NTDs (33). The phenotypes in this human linkage study included various NTDs: mainly lumbosacral level myelomeningocele (spina bifida), but also including anencephaly and craniorachischisis (33).…”

Section: Discussionmentioning

confidence: 99%

“…This MTHFR variant is associated at most with 11-19% of human cases (8). A recent whole genome screen for human NTDs (33) found several suggestive linkage regions, the most significant of which were at chromosomes 7p22 (associated specifically with one large family) and 10q25.3. The identification of the specific susceptibility genes at these loci would be a major step toward understanding the genetic causes for NTDs.…”

mentioning

confidence: 99%

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Modifier locus for exencephaly inCecr2mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans

Davidson

Churchill

et al. 2007

Physiological Genomics

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Section: Discussionmentioning

confidence: 85%

mentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Modifier locus for exencephaly inCecr2mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans

Davidson

Churchill

et al. 2007

Physiological Genomics

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“…Two candidate genes (Meox2 and Twist1 ) were identified on chromosome 7 and three candidates (FGFR2, GFRA1, Pax2) were found on critical region of the chromosome 10. [21] Statistical test are employed to assess evidence of allelic association for NTDs. Infact allelic association is population-specific.…”

Section: Identification Of Susceptibility Genes Involved In Ntdsmentioning

confidence: 99%

Advances in Genetics of Non Syndromic Neural Tube Defects

Marco¹

2012

Neural Tube Defects - Role of Folate, Prevention Strategies and Genetics

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Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population

Nasri,

Ben Jamaa,

Siala Gaigi

et al. 2024

Birth Defects Research

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ObjectiveTo determine the effect of maternal status in (plasma and red blood cell) folate, vitamin B12, homocysteine, and vitamin D, as well as their interaction with MTHFR (C677T and A1298C) and MTRR A66G polymorphisms, on maternal plasma docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), and arachidonic acid (ARA) levels and the risk of neural tube defects (NTDs).MethodsARA, EPA, and DHA composition was assessed using capillary gas chromatography.ResultsARA and DHA levels were higher in controls than in case mothers for low plasma folate status. For low red blood cell folate status, DHA levels were higher in controls than in case mothers. For high homocysteine levels, ARA and DHA levels were higher in controls than in case mothers. NTD mothers had lower EPA and DHA levels for low vitamin B12 levels. NTD mothers had lower DHA levels for low vitamin D levels. For low plasma folate status, DHA levels in the MTHFR C677T gene and ARA and EPA levels in MTHFR A1298C gene were different among the three genotypes in case mothers. DHA levels in the MTHFR C677T gene were different among the three genotypes in case mothers for both low and high homocysteine levels. For low vitamin B12 levels, ARA and DHA levels were different among the three genotypes of the MTHFR C677T gene in case mothers. In the MTHFR C677T gene, ARA and DHA levels were different among the three genotypes in case mothers for low vitamin D levels.ConclusionsMore advanced research is required to verify a suitable biochemical parameter status in relation to the genotypes in pregnant women.

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Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

Cited by 38 publications

References 35 publications

Modifier locus for exencephaly inCecr2mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans

Modifier locus for exencephaly inCecr2mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans

Advances in Genetics of Non Syndromic Neural Tube Defects

Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population

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