Polymorphic variants near 1p22 and 20q11.2 loci and the risk of non-syndromic cleft lip and palate in South Indian population

Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Chaubey, Gyaneshwer; Lakkakula, Bhaskar Vks

doi:10.1016/j.ijporl.2015.10.055

Cited by 11 publications

(11 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Based on the studies by Mangold 8) and Beaty et al 9) , rs481931 and rs560426 in ABCA4 and rs17820943 in MAFB are risk factors of NSCL/ P. Bagordakis 10) showed that rs560426 is a risk marker in Brazilian populations; however, Borges 11) showed opposite results despite studying almost the same population. In the study of south Indian populations by Babu et al 12) , rs481931 and rs560426 in ABCA4 were not related to NSCL/P. A study by Duan et al 13) also did not reveal an association between these three SNPs and NSCL/P in Chinese populations.…”

Section: Introductionmentioning

confidence: 87%

Associations of ABCA4 and MAFB with Nonsyndromic Cleft Lip with or without Cleft Palate in a Northeastern Chinese Population

Lu²,

Liu

et al. 2018

J. Hard Tissue Biology.

View full text Add to dashboard Cite

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital deformity worldwide with multifaceted etiology. The interactions of genes and environmental factors may be related to NSCL/P susceptibility. In the present study, we aimed to identify the relationship between ABCA4 (rs481931, rs560426) and MAFB (rs17820943) polymorphisms and NSCL/P in a northeastern Chinese population. A total of 248 patients, including 98 nuclear families, and 280 healthy controls were recruited for this study. The three SNPs were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Diff erences in the allele and genotype frequency between cases and controls were evaluated by chi-square test with OR values and 95% confi dence intervals. The familybased association test 5.5 (FBAT 5.5) software package for genetic analysis of pedigrees with complex diseases was used to evaluate the patients and their parents' core families. In MAFB, statistical evidence of an association between rs17820943 (p=0.022) and NSCL/P was observed in case-control analyses. FBATs showed over-transmission of the C allele at the rs481931 polymorphism (p=0.039). However, no statistically signifi cant diff erence was observed at rs560426. In addition, the C (rs481931)-G (rs560426) haplotype (P=0.004) was associated with the occurrence of NSCL/P. This study shows that rs481931 in ABCA4 and rs17820943 in MAFB are involved in the occurrence of NSCL/P in a northeastern Chinese population.

show abstract

Section: Introductionmentioning

confidence: 87%

Associations of ABCA4 and MAFB with Nonsyndromic Cleft Lip with or without Cleft Palate in a Northeastern Chinese Population

Lu²,

Liu

et al. 2018

J. Hard Tissue Biology.

View full text Add to dashboard Cite

show abstract

“…Table 1 shows some features of the studies included in this meta-analysis that the studies were published from 2011 to 2018. Five studies [6,[18][19][20][21] reported the risk of NSCL/P related to ABCA4 polymorphisms in the Asian ethnicity, four [5,7,14,22] in the mixed ethnicity, and three [23][24][25] in the Caucasian ethnicity. The source of controls in six studies [14,18,19,21,23,24] was hospital-based while six other studies [5][6][7]20,22,25] were population-based.…”

Section: Study Selectionmentioning

confidence: 99%

“…Some studies reported the mean age, the number of males in the two groups, and the type of disease. Of 12 studies, all of them reported ABCA4 rs560426 polymorphism, but only six studies [5,6,21,[23][24][25] reported ABCA4 rs481931 polymorphism. There were different genotyping methods among the studies presented in Table 1.…”

Section: Study Selectionmentioning

confidence: 99%

Polymorphisms of ATP-binding cassette, sub-family A, member 4 (rs560426 and rs481931) and non-syndromic cleft lip/palate: A systematic review and meta-analysis

Imani¹,

Safaei²,

López‐Jornet³

et al. 2019

Preprint

View full text Add to dashboard Cite

Background A number of gene loci are closely associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Herein, this meta-analysis assessed the association between ATP-binding cassette, sub-family A, member 4 (ABCA4) polymorphisms (rs560426 and rs481931) and the risk of NSCL/P by reviewing case-control studies.Methods Four databases including Scopus, Cochrane Library, Web of Science, and PubMed were searched for articles published up to December 2018. The Review Manager 5.3 software was used to calculate the crude odds ratio (OR) and 95% confidence interval (CI).Results Of 82 retrieved studies, 12 were analyzed in this meta-analysis (2,859 NSCL/P patients and 3,792 controls for ABCA4 rs560426 polymorphism and 1,333 NSCL/P patients and 1,884 controls for ABCA4 rs481931 polymorphism). There was no significant association between the polymorphisms and the risk of NSCL/P, with the exception of the allelic model (OR=1.13; 95% CI: 1.01, 1.27; p=0.03), the homozygote model (OR=1.53; 95% CI: 1.01, 2.31; p=0.04), and the recessive model (OR=1.30; 95% CI: 1.03, 1.63; p=0.03) in the Asian ethnicity for rs560426 polymorphism.Conclusion The findings confirmed that G allele and GG genotype of rs560426 polymorphism were significantly associated with the risk of NSCL/P in the Asian population, but not for rs481931polymorphism. Also, there was no association between both polymorphisms (rs560426 and rs481931) with the risk of NSCL/P in the Caucasian and the mixed ethnicities, as well as the source of controls. Therefore, ethnicity may play a significant role in this association.

show abstract

“…GWAS also identified genetic risk loci of NSCL/P associated with a number of chromosomal loci (e.g., 1p22, 20q12, 1q32, 8q24, 17q22) (Huang, Cheng, Xu, Shu, & Tang, 2012;Salagovic et al, 2017). Venkatesh Babu Gurranmkonda et al investigated the role of polymorphic variants at 20q11.2 (near MAFB) loci in the etiology of NSCL/P specifically in the South Indian population (Gurramkonda, Syed, Murthy, Chaubey, & Lakkakula, 2015). A number of replication studies on these genetic factors, however, have provided different results, probably due to different ethnics and populations.…”

Section: Introductionmentioning

confidence: 99%

Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort

Huang

Zheng

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. AbstractBackground: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation in the world. Both environment and genetics are involved with the etiology of the disease. Genome-wide association studies have identified two single nucleotide polymorphisms (SNPs) at chromosome 20q12 to be associated with NSCL/P. The current study aimed to explore the association of the two SNPs at 20q12 with NSCL/P and different subtypes in a Southern Chinese Han cohort. Methods: A total of 430 NSCL/P patients and 451 controls were recruited in the current study. Two SNPs including rs17820943 and rs6072081 at 20q12 were genotyped in the study cohort using Taqman SNP genotyping analysis. Chi-Square test was used to compare allele and genotype frequencies of NSCL/P patients and control group. Results: Case-control analysis showed that the allele and genotype of rs17820943 and rs6072081 were significantly associated with NSCL/P (p < .01). Comparison between subtypes of NSCL/P and controls showed that frequencies of the G allele and GG genotype of rs6072081 (p = 4.52 × 10 −4 and p = .001 respectively), and those of the T allele and TT genotype of rs17820943 (p = 6.7 × 10 −5 and p = 1.71 × 10 -4 respectively) were decreased in cleft lip and palate (CLP). No significant association of the two SNPs with cleft lip only (CLO) and cleft palate only (CPO) was found (p > .05). Conclusion: These results showed that rs17820943 and rs6072081 at 20q12 were associated with NSCL/P, especially with the CLP subtype in a Southern Chinese Han cohort. K E Y W O R D S20q12., nonsyndromic cleft lip with or without cleft palate (NSCL/P), single nucleotide polymorphism (SNP) 2 of 5 | HE Et al.

show abstract

Polymorphic variants near 1p22 and 20q11.2 loci and the risk of non-syndromic cleft lip and palate in South Indian population

Cited by 11 publications

References 33 publications

Associations of ABCA4 and MAFB with Nonsyndromic Cleft Lip with or without Cleft Palate in a Northeastern Chinese Population

Associations of ABCA4 and MAFB with Nonsyndromic Cleft Lip with or without Cleft Palate in a Northeastern Chinese Population

Polymorphisms of ATP-binding cassette, sub-family A, member 4 (rs560426 and rs481931) and non-syndromic cleft lip/palate: A systematic review and meta-analysis

Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort

Contact Info

Product

Resources

About