Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

Sathyaprasad, Savitha; Sharma, SK; Shetty, Veena; Rekha, Rokeya Sultana

doi:10.4103/0970-0358.163053

Cited by 9 publications

(7 citation statements)

References 27 publications

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“…Thus, a total of 11 eligible publications were finally included in the present meta-analysis. [ 13 – 15 , 19 – 26 ] The characteristics of the included studies are presented in Table 1 . Of these studies, seven were hospital-based case–control designs, and 4 were population-based case–control designs.…”

Section: Resultsmentioning

confidence: 99%

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BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate

Yang²,

Zhang³

et al. 2017

Medicine

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Background:Previous studies have investigated the relationship between human bone morphogenetic protein 4 gene (BMP4) rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, the results remained inconsistent. Therefore, we conducted a meta-analysis to assess the effect of BMP4 rs17563 polymorphism on NSCL/P.Methods:Electronic searches in 5 databases were conducted to select all eligible studies up to March 2017. Odds ratios (ORs) with the corresponding 95% confidence intervals (CIs) were calculated to estimate the association. Sensitivity analysis was performed to evaluate the results stability by excluding each study in turn. Publication bias was assessed by Begg funnel plots and Egger test.Results:A total of 11 case–control studies were included in the meta-analysis. The pooled frequency of the minor allele C for BMP4 rs17563 was lower in Asians (pooled frequency = 0.33, 95% CI: 0.29–0.37) than in Brazilian population (pooled frequency = 0.47, 95% CI: 0.40–0.54). The overall results showed no significant association of BMP4 rs17563 polymorphism with NSCL/P risk. However, the results turned out to be different when stratified by ethnicity. BMP4 rs17563 polymorphism was associated with a higher risk of NSCL/P among Asian ethnicity (C vs T: OR = 1.33, 95% CI: 1.02–1.73; CC vs TT: OR = 2.10, 95% CI: 1.28–3.43; CC vs TT + TC: OR = 2.16, 95% CI: 1.34–3.47) and among Caucasian population (TC vs TT: OR = 3.36, 95% CI: 2.03–5.54; TC + CC vs TT: OR = 3.71, 95% CI: 2.43–5.69). Among Brazilian population, BMP4 rs17563 polymorphism exerted a significantly protective effect on NSCL/P (C vs T: OR = 0.70, 95% CI: 0.58–0.84; CC vs TT: OR = 0.54, 95% CI: 0.33–0.88; TC vs TT: OR = 0.55, 95% CI: 0.44–0.69; TC + CC vs TT: OR = 0.56, 95% CI: 0.45–0.69).Conclusion:The results suggest that the C allele of BMP4 rs17563 may be a risk factor for NSCL/P among Asians and Caucasians, and may be a protective factor for NSCL/P in Brazilian population. Future large-sample studies with appropriate designs among specific populations are warranted to evaluate the association.

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Section: Resultsmentioning

confidence: 99%

“…The genotype distribution in the control group was consistent with HWE in all studies except for one. [ 13 ]…”

Section: Resultsmentioning

confidence: 99%

BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate

Yang²,

Zhang³

et al. 2017

Medicine

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“… 17 According to Rafighdoost et al, 18 in the population of southeastern Iran, the BMP4 rs17563 variant has a protective effect on the occurrence of NSCLP. In a separate case-control study by Savitha et al, 19 on NSCLP, one study reported an increased risk of NSCLP in Indian population.…”

Section: Discussionmentioning

confidence: 98%

Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families

Neela

Reddy

Husain

et al. 2021

Global Medical Genetics

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Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP. Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families. Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK. Results Polymorphisms followed the Hardy–Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs. Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.

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“…The BMP4 rs17563 T>C was studied in a Chinese population 17 , where they find no significant association between BMP4 rs17563 T>C and orofacial cleft. Study in Karnataka, India, with a total sample of 200, 100 for each group shows that there was a significant difference with p < 0.05, OR = 4.2%.…”

Section: Discussionmentioning

confidence: 99%

Association of rs235768 A>T polymorphism of the bone morphogenetic protein 2 gene on non-syndromic orofacial cleft in an Indonesian population

et al. 2020

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Introduction: Orofacial cleft is one of the many congenital malformations that often occur in human, leaving it at the fourth level of the most common orofacial birth defect findings. The incident rate is one in 700-1000 deliveries, where without therapeutic and surgical interventions, children with an orofacial cleft may have problems with speech, nutrition intake, and growth. Bone morphogenetic protein 2 (BMP-2) gene play essential roles in the migration and proliferation of neural crest cell of the early head formation and regulate mineralised tissues such as maxillary, mandible, palate and teeth. This study was aimed to analyse the BMP-2 polymorphism and its potential association with orofacial cleft in an Indonesian population. Methods: Cross-sectional study was conducted towards 128 samples, 32 samples of orofacial cleft patients and 96 samples of control. Extracted genotype and allele was determined with PCR-RFLP method using stored DNA samples from 32 orofacial cleft patients, and 96 healthy control. Results: The TT genotype was showing the p-value = 0.001, OR = 2.43% in orofacial samples (71.4%), which was significantly higher than in control groups (28.6%). The allele distribution was also considered statistically significant (p = 0.036, OR =1.89%. Conclusion: There is a significant association of rs235768 A>T polymorphism of the BMP-2 gene on non-syndromic orofacial cleft patients in Indonesia.

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Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

Cited by 9 publications

References 27 publications

BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate

BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate

Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families

Association of rs235768 A>T polymorphism of the bone morphogenetic protein 2 gene on non-syndromic orofacial cleft in an Indonesian population

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