Association of <i>MSX1</i> c.*6C &gt; T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients

Oner, Deniz Aslar; Taştan, Hakkı

doi:10.1089/gtmb.2015.0341

Cited by 3 publications

(5 citation statements)

References 27 publications

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“…The rs12532 SNP was the most widely investigated SNP (seven studies, HWE P > 0.05 among the controls), followed by rs8670, rs6446693, rs104893854, rs3775261, and rs1907998 [three studies each; HWE P > 0.05, except for rs8670 in the study by Aslar Oner et al . , rs6446693 in the study by Sun et al . , rs104893854 in the study by Huang et al .…”

Section: Resultsmentioning

confidence: 93%

“…Among these studies, six were performed in Asian populations (6,(19)(20)(21)(22)(23), three were performed in Caucasian populations (24)(25)(26), and the remaining three were performed in Mexican and Brazilian subjects, who were grouped as South American (18,27,28). Three studies (6,21,25) performed a stratified analysis of CL/P and CPO and provided detailed genotype information for the SNPs in these two subgroups (6,21,25).…”

Section: Study Characteristicsmentioning

confidence: 99%

“…A total of eight MSX1 SNPs (rs12532, rs8670, rs6446693, rs104893854, rs3821949, rs1042484, rs377 5261, and rs1907998) were included in these 12 studies. The rs12532 SNP was the most widely investigated SNP (seven studies, HWE P > 0.05 among the controls), followed by rs8670, rs6446693, rs104893854, rs3775261, and rs1907998 [three studies each; HWE P > 0.05, except for rs8670 in the study by ASLAR ONER et al (26), rs6446693 in the study by SUN et al (19), rs104893854 in the study by HUANG et al (21), and rs3775261 in the study by CARDOSO et al (27)], and rs3821949 and rs1042484 were the least studied (two studies, HWE P > 0.05 among the controls). The study without a consistent HWE was excluded from further analysis.…”

Section: Study Characteristicsmentioning

confidence: 99%

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MSH homeobox 1 polymorphisms and the risk of non‐syndromic orofacial clefts: a meta‐analysis

Zhang

Liu

et al. 2018

European J Oral Sciences

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MSH homebox 1 (MSX1) is a susceptibility gene for non-syndromic orofacial clefts (NSOCs). Here, a meta-analysis was conducted to assess their associations. A systematic search of PubMed to 1 September 2017, was performed to retrieve all eligible studies. Odds ratios (ORs) were used to calculate the associations. The stability of the results was evaluated by sensitivity analysis. Publication bias was assessed using Begg's funnel plots and the Egger test. In silico Msx1 expression during early mouse craniofacial development was evaluated by the Gene Expression Omnibus. In the overall analysis, MSX1 rs12532 (G>A) contributed to a decreased risk of NSOC. In an analysis stratified according to disease type, rs12532 was associated with the risk of cleft palate only (CPO) but not with the risk of cleft lip with or without cleft palate (CL/P). The association of rs12532 with the occurrence of NSOC in Asian and Caucasian populations but not South American populations was observed in an analysis stratified according to ethnicity. However, no significant associations were detected between any of the other MSX1 SNPs and the risk of NSOC in either the overall or subgroup analysis. The Msx1 gene was widely expressed in mouse craniofacial structures from embryonic day (E)8.5-E10.5. Taken together, the study indicates that MSX1 rs12532 is associated with the risk of NSOC.

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Section: Resultsmentioning

confidence: 93%

Section: Study Characteristicsmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

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MSH homeobox 1 polymorphisms and the risk of non‐syndromic orofacial clefts: a meta‐analysis

Zhang

Liu

et al. 2018

European J Oral Sciences

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“…HWE was assessed using the online application, https://ihg.gsf.de/cgi-bin/hw/hwa1.pl. Screening for HWE resulted in exclusion of two articles (Aslar Oner & Tastan, ; Rochmah, Suwarsi, & Harumsari, ) which we detail in S1 List B. With a median and interquartile range of 8.0 (6.25–8.75) for the non‐normally distributed CB scores (Shapiro–Wilk test: p = 0.02), methodological quality of the component studies was high (Table ).…”

Section: Resultsmentioning

confidence: 99%

“… we excluded the study (Aslar Oner & Tastan, ) because our calculations showed that their control frequencies deviated from the Hardy–Weinberg Equilibrium (S1 List B). …”

Section: Methodsmentioning

confidence: 99%

MSX1 gene polymorphisms and non‐syndromic cleft lip with or without palate (NSCL/P): A meta‐analysis

et al. 2019

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Objective Non‐syndromic cleft lip, with or without cleft palate (NSCL/P), is a common craniofacial birth defect, the risk of which is influenced from multiple genetic loci. Association study outcomes between single nucleotide polymorphisms (SNPs) near the muscle segment homeobox gene 1 (MSX1) and NSCL/P have been inconsistent. This compels a meta‐analysis to obtain more precise estimates. Methods From 15 publications, we examined 12 SNPs under six groups (SG), based on linkage disequilibrium. Pooled odds ratios and 95% confidence intervals were calculated under the standard genetic models. The pooled effects were subjected to subgroup, outlier, sensitivity, and funnel plot (publication bias) analyses. Results Three of the six SGs showed significant associations. SG1 and SG4 effects indicated reduced risks. SG1 outcomes were attributed to outlier treatment, which the Asian outcomes validated. In contrast, increased risks were observed in SG3. All these significant outcomes were deemed robust by sensitivity analysis with no evidence of publication bias. Conclusions Our study shows eight MSX1 SNPs associated with risk of NSCL/P. SG1 and SG4 carriers are protected (up to 23%), but SG3 carriers are 1.3‐fold susceptible. Outlier treatment unmasked the significant associations in SG1. Non‐heterogeneity and robustness helped elevate the level of evidence in our significant findings.

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Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population

Memon,

Khidri,

Waryah

et al. 2023

The Cleft Palate Craniofacial Journal

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Objectives This study investigated the association of MSX1 gene variants rs3821949 and rs12532 with nonsyndromic cleft lip and/or palate (NSCL/P) in the Pakistani population. Design Comparative cross-sectional study. Setting: Multicenter of CL/P malformation. Patients/Participants: Unrelated Non-Syndromic cleft Lip/Palate patients and healthy controls were enrolled. Methods One hundred ( n = 100) subjects with NSCL/P and n = 50 unrelated healthy controls were enrolled in a multicenter comparative cross-sectional study. A tetra amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) was performed to analyze MSXI gene single nucleotide variants (SNVs). Results Among 100 NSCL/P subjects, the majority were males (56%; male: female = 1.27: 1). Most of the cases (74%) had cleft lip and palate (CLP) compared to isolated clefts. Genotyping of MSX1 gene variant rs3821949 showed an increased risk for NSCL/P in various genetic models ( P < 0.0001), and the A allele exhibited a more than 4-fold increased risk among cases (OR = 4.22: 95% CI = 2.16–8.22; P < 0.0001). Our investigation found no significant difference between the rs12532 variation and NSCL/P. Conclusion Our study findings suggest that MSX1 gene variants may increase predisposition to NSCL/P in the Pakistani population. Further studies comprising large samples are required to identify the genetic aetiology of NSCL/P among our people.

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Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients

Abstract: Our identification of the c.*6C > T variant appears to be the first reported result associating variants of the MSX1 gene with nsCL/P patients.

Cited by 3 publications

References 27 publications

MSH homeobox 1 polymorphisms and the risk of non‐syndromic orofacial clefts: a meta‐analysis

MSH homeobox 1 polymorphisms and the risk of non‐syndromic orofacial clefts: a meta‐analysis

MSX1 gene polymorphisms and non‐syndromic cleft lip with or without palate (NSCL/P): A meta‐analysis

Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population

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