Mohammad Moslem Imani1, Masoud Sadeghi2,3, Santosh Kumar Tadakamadla4, Annette Brühl5,6, Dena Sadeghi Bahmani5,6,7,8,9, Mohammad Taheri10, Serge Brand5,6,7,8,11,12. 1. Department of Orthodontics, School of Dentistry, Kermanshah University of Medical Sciences, Kermanshah 6713954658, Iran. 2. Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah 6714415185, Iran. 3. Students Research Committee, Kermanshah University of Medical Sciences, Kermanshah 6715847141, Iran. 4. Senior Research and National Health and Medical Research Council Fellow, School of Dentistry and Oral Health, Griffith University, Gold Coast 4214, Australia. 5. Center for Affective, Stress and Sleep Disorders (ZASS), Psychiatric University Hospital Basel, 4002 Basel, Switzerland. 6. Department of Clinical Research, University of Basel, 4031 Basel, Switzerland. 7. Sleep Disorders Research Center, Kermanshah University of Medical Sciences, Kermanshah 6719851115, Iran. 8. Substance Abuse Prevention Research Center, Kermanshah University of Medical Sciences, Kermanshah 6715847141, Iran. 9. Departments of Physical Therapy, University of Alabama at Birmingham, Birmingham, AL 35209, USA. 10. Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran 1983963113, Iran. 11. Department of Sport, Exercise and Health, Division of Sport Science and Psychosocial Health, University of Basel, 4052 Basel, Switzerland. 12. School of Medicine, Tehran University of Medical Sciences, Tehran 1416753955, Iran.
Abstract
BACKGROUND: A number of genes are associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Studies have shown a significant association between polymorphisms of ATP-binding cassette, sub-family A, member 4 (ABCA4) with the risk of NSCL/P. The present meta-analysis assessed the association between ABCA4 polymorphisms (rs560426 and rs481931) and the NSCL/P risk by reviewing case-control studies. METHODS: Four databases (Scopus; Cochrane Library; Web of Science; and PubMed) were searched for articles published up to June 2020. The Review Manager 5.3 software was used to calculate the crude odds ratio (OR) and 95% confidence interval (CI). Both subgroup analyses for ethnicity and source of controls and a meta-regression related to publication year were conducted. RESULTS: Of 94 retrieved studies, 12 were analyzed in this meta-analysis (2859 NSCL/P patients and 3792 controls for ABCA4 rs560426 polymorphism and 1333 NSCL/P patients and 1884 controls for ABCA4 rs481931 polymorphism). Overall, there was no significant association between both polymorphisms and the risk of NSCL/P. However, subgroup analysis demonstrated that there was a higher risk of NSCL/P for specific models: the allelic model (OR = 1.13; p = 0.03), the homozygote model (OR = 1.53; p = 0.04), and the recessive model (OR = 1.30; p = 0.03) in the Asian ethnicity for the rs560426 polymorphism. CONCLUSION: The findings confirmed that the NSCL/P risk was significantly associated with the G allele and GG genotype of rs560426 polymorphism but not for rs481931 polymorphism. There were no associations between both polymorphisms (rs560426 and rs481931) and the NSCL/P risk in those of European descent and the mixed ethnicities.
BACKGROUND: A number of genes are associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Studies have shown a significant association between polymorphisms of ATP-binding cassette, sub-family A, member 4 (ABCA4) with the risk of NSCL/P. The present meta-analysis assessed the association between ABCA4 polymorphisms (rs560426 and rs481931) and the NSCL/P risk by reviewing case-control studies. METHODS: Four databases (Scopus; Cochrane Library; Web of Science; and PubMed) were searched for articles published up to June 2020. The Review Manager 5.3 software was used to calculate the crude odds ratio (OR) and 95% confidence interval (CI). Both subgroup analyses for ethnicity and source of controls and a meta-regression related to publication year were conducted. RESULTS: Of 94 retrieved studies, 12 were analyzed in this meta-analysis (2859 NSCL/Ppatients and 3792 controls for ABCA4rs560426 polymorphism and 1333 NSCL/Ppatients and 1884 controls for ABCA4rs481931 polymorphism). Overall, there was no significant association between both polymorphisms and the risk of NSCL/P. However, subgroup analysis demonstrated that there was a higher risk of NSCL/P for specific models: the allelic model (OR = 1.13; p = 0.03), the homozygote model (OR = 1.53; p = 0.04), and the recessive model (OR = 1.30; p = 0.03) in the Asian ethnicity for the rs560426 polymorphism. CONCLUSION: The findings confirmed that the NSCL/P risk was significantly associated with the G allele and GG genotype of rs560426 polymorphism but not for rs481931 polymorphism. There were no associations between both polymorphisms (rs560426 and rs481931) and the NSCL/P risk in those of European descent and the mixed ethnicities.
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