Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

Birth Defects Research
Nina IshorstElisabeth Mangold

Abstract

Nonsyndromic cleft palate only (nsCPO) is a common and multifactorial form of orofacial clefting. In contrast to successes achieved for the other common form of orofacial clefting, that is, nonsyndromic cleft lip with/without cleft palate (nsCL/P), genome wide association studies (GWAS) of nsCPO have identified only one genome wide significant locus. Aim of the present study was to investigate whether common variants contribute to nsCPO and, if so, to identify novel risk loci. We genotyped 33 SNPs at 27 candidate loci from 2 previously published nsCPO GWAS in an independent multiethnic sample. It included: (i) a family-based sample of European ancestry (n = 212); and (ii) two case/control samples of Central European (n = 94/339) and Arabian ancestry (n = 38/231), respectively. A separate association analysis was performed for each genotyped dataset, and meta-analyses were performed. After association analysis and meta-analyses, none of the 33 SNPs showed genome-wide significance. Two variants showed nominally significant association in the imputed GWAS dataset and exhibited a further decrease in p-value in a European and an overall meta-analysis including imputed GWAS data, respectively (rs395572: PMetaEU  = 3.16 × 10-4 ; rs680...Continue Reading

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Citations

May 29, 2018·Congenital Anomalies·Mohammad Faisal J KhanMichele Rubini
Jan 11, 2020·Frontiers in Cell and Developmental Biology·Katiúcia Batista Silva PaivaAriadne Letra
May 7, 2020·International Journal of Epidemiology·Christina DardaniGemma C Sharp
Jul 27, 2021·Frontiers in Cell and Developmental Biology·Renato Assis MachadoRicardo D Coletta

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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.