Association between Maternal Folate Intake and Polymorphism MTHFR A1298C as Risk Factor of Non-Syndromic Cleft Lips

Rochmah, Yayun Siti; Harumsari, Stefani; Sosiawan, Agung; Rajiani, Ismi

doi:10.5958/0976-5506.2018.00611.3

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“…23,25 Mothers with homozygous genotype polymorphism would pass on offspring with a more severe phenotype than heterozygous mothers. 26 This discrepancy in phenotype may be attributable to the multiple causes of NS CL/P, as well as the effects of maternal folate consumption during pregnancy on embryogenesis and fetal phenotype regulation due to epigenetic mechanisms. 27,28 With The advanced technology in molecular biology such as next-generation sequencing for trio analysis (child, mother, and father) probably can explain the inherited recessive alleles.…”

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confidence: 99%

Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate

Rochmah,

Harumsari,

Christiono

et al. 2023

Eur J Dent

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Objectives The etiologies of nonsyndromic cleft lips with or without palate (NS CL/P) are multifactorial, which include consanguineous marriages. The incidence of NS CL/P is relatively high in Indonesia notably in one of Indonesia's tribes whose members frequently marry close cousins. Thus, the purpose of this study is to analysis consanguinity as risk factor of NS CL/P in Sasak tribe, East Lombok, Indonesia Materials and Methods An observational analysis was made of a collected database of NS CL/P patients treated in social services in regency hospital of Dr. Soejono Selong, East Lombok, Indonesia. Demographic data such as age, gender, address (urban/rural), parent's education, presence or absence of consanguinity, type of clefts, and a three-generation pedigree were collected by interview and hospital medical record. Before analysis, patient information was anonymized and deidentified. From 2016 to 2018, each of 100 cleft and normal subjects with their Sasak parent were audited. The risk factors were analyzed statistically using odds ratio (OR) and chi-squared test. Results Consanguineous marriages identified 54 cases (54%), and 10 cases (10%) out of a total each 100 NS CL/P and controls, respectively. The majority of consanguinity (53.7%) was discovered in marriages between first cousins. NS CL/P cases were statistically linked (p = 0.00) with consanguineous marriages (OR: 10; 95% confidence interval: 1.6–3.1); in which the most prevalent case is unilateral cleft lips. Conclusion Consanguineous marriage increases the risk of NS CL/P in Sasak tribe, East Lombok, Indonesia. The development of strategies to educate communities on the impacts of culture-consanguineous marriage is required. The genetic inheritance from their ancestor may be responsible for the increased incidence of NS CL/P.

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