scholarly journals CRISPLD2 Gene Polymorphisms with Nonsyndromic Cleft Lip Palate in Indian Population

2020 ◽  
Vol 07 (01) ◽  
pp. 022-025
Author(s):  
Praveen Kumar Neela ◽  
Srinivas Reddy Gosla ◽  
Akhter Husain ◽  
Vasavi Mohan
Keyword(s):  
High Risk ◽  
Gene Polymorphisms ◽  
Cleft Lip ◽  
Indian Population ◽  
High Volume ◽  
Genome Association ◽  
Cleft Lip Palate ◽  
Hardy Weinberg Equilibrium ◽  
Whole Genome Association

AbstractCleft lip palate (CLP) is one of the common congenital anomalies with multifactorial etiology. Many genes are associated with its etiology. In one of the studies CRISPLD2 gene polymorphisms rs1546124, rs4783099, and rs16974880 were reported in the Chinese population. However, its role in the Indian population is not yet studied. Hence, this research was conducted on the Indian population to know the role of these high-risk polymorphisms in patients with nonsyndromic CLP. Following an inclusion and exclusion criteria, 20 multiplex CLP families were selected from a high volume cleft center in India. Genomic DNA was isolated from these families. Single nucleotide polymorphism (SNP) rs1546124, rs4783099, and rs16974880 were analyzed for their association using MassARRAY method. A whole-genome association analysis toolset, PLINK was used for statistical analysis. The polymorphisms followed Hardy–Weinberg equilibrium. None of the polymorphisms showed any significance. Hence the high-risk polymorphisms rs1546124, rs4783099, and rs16974880 are not associated with nonsyndromic CLP in Indian population.

scholarly journals Association of MAPK4 and SOX1-OT gene polymorphisms with cleftlip palate in multiplex families: A genetic study

2020 ◽  
Vol 14 (2) ◽  
pp. 93-96
Author(s):  
Praveen Kumar Neela ◽  
Srinivas Reddy Gosla ◽  
Akhter Husain ◽  
Vasavi Mohan ◽  
Sravya Thumoju ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
P Value ◽  
Risk Markers ◽  
Genome Association ◽  
Hardy Weinberg Equilibrium ◽  
Whole Genome Association ◽  
Multiplex Families ◽  
Different Populations ◽  
Control Study

Background. Cleft lip and palate (CLP) is a common congenital anomaly. Many genes, like MAPK4 andSOX-1OT, are associated with its etiology in different populations. High-risk markers on these genesreported in other populations were not studied in our population. Hence, the study aimed to determinethe association of MAPK4 and SOX-1OT polymorphisms in CLP in multiplex families. Methods. Based on inclusion and exclusion criteria, we selected 20 multiplex CLP families for thiscase‒control study, in which the affected individuals and healthy controls selected from these familieswere compared. Fifty subjects affected with cleft and 38 unaffected subjects were included in the study.The polymorphisms studied for the association consisted of rs726455 and rs2969972 in the genes SOX-1OT and MAPK4, respectively. DNA was isolated and sent for genotyping using the MassArray method.Plink, a whole-genome association analysis toolset, was used for statistical analysis. Results. Both polymorphisms followed Hardy–Weinberg equilibrium. The rs726455 of SOX-1OTyielded a P-value of 0.983 and an allelic odds ratio (OR) of 0.983. For rs2969972 of MAPK4, the P-valuewas 0.04 (significant), and the allelic OR was 0.51. Minor allele frequency (MAF) in the unaffectedsubjects was more than the MAF in the affected subjects for rs2969972. Conclusion. The results suggested that polymorphism rs726455 on SOX-1OT was not associated withfamilial cases of CLP. Since MAF in the unaffected subjects was more than the MAF-affected subjects,rs2969972 on MAPK4 is protective in the multiplex families.

scholarly journals Isoform-Specific Roles of Mutant p63 in Human Diseases

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 536
Author(s):  
Christian Osterburg ◽  
Susanne Osterburg ◽  
Huiqing Zhou ◽  
Caterina Missero ◽  
Volker Dötsch
Keyword(s):  
Cleft Lip ◽  
Ectodermal Dysplasia ◽  
Skin Development ◽  
Disease Mechanisms ◽  
Skin Fragility ◽  
Cleft Lip Palate ◽  
Life Threatening ◽  
Functional Consequences ◽  
Development And Differentiation

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.

Role of APOE and IL18RAP gene polymorphisms in cervical spondylotic myelopathy in Indian population

2019 ◽  
Vol 66 ◽  
pp. 83-86 ◽  
Author(s):  
S. Diptiranjan ◽  
S.M. Harshitha ◽  
M.K. Sibin ◽  
S. Arati ◽  
G.K. Chetan ◽  
...  
Keyword(s):  
Cervical Spondylotic Myelopathy ◽  
Gene Polymorphisms ◽  
Indian Population

The role of audiological diagnostics in children with cleft lip & palate (CLP)

2009 ◽  
Vol 73 (10) ◽  
pp. 1365-1367 ◽  
Author(s):  
Silky Luthra ◽  
Satbir Singh ◽  
Anu N. Nagarkar ◽  
J.K. Mahajan
Keyword(s):  
Cleft Lip ◽  
Cleft Lip Palate

Opioid Prescribing Practices in Cleft Lip and Cleft Palate Reconstruction

2021 ◽  
pp. 105566562199016
Author(s):  
Reuben A. Falola ◽  
Jordan T. Blough ◽  
Jasson T. Abraham ◽  
Sebastian M. Brooke
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Prescribing Patterns ◽  
Prescribing Practices ◽  
Opioid Prescribing ◽  
Cleft Lip Palate ◽  
Nonopioid Analgesics ◽  
Cleft Lip Repair ◽  
Palate Repair

Introduction: Currently, there is no consensus regarding the role of opioids in the management of perioperative pain in children undergoing cleft lip/palate repair. Method: The present study evaluated opioid prescribing patterns of surgeon members within the American Cleft Palate-Craniofacial Association surgeons utilizing an anonymous survey. Results: Respondents performing cleft lip repair typically operate on patients 3 to 6 months of age (86%), admit patients postoperatively (82%), and discharge them on the first postoperative day (72%). Comparatively, respondents performed palatoplasty between the ages of 10 and 12 months (62%), almost always admit the patients (99%), and typically discharge on the first postoperative day (78%). Narcotics were more frequently prescribed after palatoplasty than after cleft lip repair, both for inpatients (66%; 49%) and at discharge (38%; 22%). Oxycodone was the most prescribed narcotic (39.1%; 41.4%), typically for a duration of 1 to 3 days (81.5%; 81.2%). All surgeons who reported changing their narcotic regimen (34.4% dose, 32.8% duration) after cleft lip repair, decreased both parameters from earlier to later in their career. Similarly, surgeons who changed the dose (32.2%) and duration (42.5%) of narcotics after palatoplasty, mostly decreased both parameters (96%). Additionally, physicians with >15 years of practice were less likely to prescribe opioids in comparison with colleagues with ≤15 years of experience. Ninety-two percent of respondents endorsed prescribing nonopioid analgesics after prescribing cleft surgery, most commonly acetaminophen (85.7%; 85.4%). Conclusion: Cleft surgeons typically prescribe opioids to inpatients and rarely upon discharge. Changes to opioid-prescribing patterns typically involved a decreased dose and duration.

scholarly journals Dissection of Genetic Factors Modulating Fetal Growth in Cattle Indicates a Substantial Role of the Non-SMC Condensin I Complex, Subunit G (NCAPG) Gene

Genetics ◽  
2009 ◽  
Vol 183 (3) ◽  
pp. 951-964 ◽  
Author(s):  
Annett Eberlein ◽  
Akiko Takasuga ◽  
Kouji Setoguchi ◽  
Ralf Pfuhl ◽  
Krzysztof Flisikowski ◽  
...  
Keyword(s):  
Fetal Growth ◽  
Significant Quantitative Trait Locus ◽  
Postnatal Life ◽  
Genetic Components ◽  
Genome Association ◽  
Whole Genome Association ◽  
Trait Locus ◽  
Set Up ◽  
The Impact

The increasing evidence of fetal developmental effects on postnatal life, the still unknown fetal growth mechanisms impairing offspring generated by somatic nuclear transfer techniques, and the impact on stillbirth and dystocia in conventional reproduction have generated increasing attention toward mammalian fetal growth. We identified a highly significant quantitative trait locus (QTL) affecting fetal growth on bovine chromosome 6 in a specific resource population, which was set up by consistent use of embryo transfer and foster mothers and, thus, enabled dissection of fetal-specific genetic components of fetal growth. Merging our data with results from other cattle populations differing in historical and geographical origin and with comparative data from human whole-genome association mapping suggests that a nonsynonymous polymorphism in the non-SMC condensin I complex, subunit G (NCAPG) gene, NCAPG c.1326T>G, is the potential cause of the identified QTL resulting in divergent bovine fetal growth. NCAPG gene expression data in fetal placentomes with different NCAPG c.1326T>G genotypes, which are in line with recent results about differential NCAPG expression in placentomes from studies on assisted reproduction techniques, indicate that the NCAPG locus may give valuable information on the specific mechanisms regulating fetal growth in mammals.

scholarly journals NONSYNDROMIC CLEFT LIP AND/OR PALATE. THE ROLE OF FOLIC ACID 30

2014 ◽  
Vol 2 (1) ◽  
Author(s):  
Ryuichi Hoshi ◽  
Luis Marcelo Alves ◽  
Jamile Sá ◽  
Alena Peixoto Medrado ◽  
Patricia De Castro Veiga ◽  
...  
Keyword(s):  
Folic Acid ◽  
Protective Effect ◽  
Metabolic Pathway ◽  
Gene Polymorphisms ◽  
Cleft Lip ◽  
Review Of The Literature ◽  
Nutritional Factors ◽  
Periconceptional Period ◽  
Different Populations

The nonsyndromic cleft lip and/or palate (NSCL/P) is a common congenital orofacial defect of multifactorial origin with involvement of genetic and nutritional factors. The presence of genetic polymorphisms in enzymes that metabolize folic acid and vitamin supplements used to prevent these anomalies have not yet been well established in the literature. The aim of this study was to conduct a review of the literature about the role of folate and gene polymorphisms in the metabolic pathway of folic acid as regards the occurrence of NSCL/P. We reviewed theoretical material that addressed data on these topics. According to the studies analyzed in the literature, there was no consensus with regard to the protective effect of supplemental folic acid taken in the periconceptional period in the prevention of NSCL/P. The studies that evaluated defects in genes involved in folate metabolism, found an association of some polymorphisms with NSCL/P in different populations.

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