Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample.
Nina IshorstPaola FrancheschelliAnne C BöhmerMohammad Faisal J KhanStefanie Heilmann-HeimbachNadine FrickerJulian LittleRegine P M Steegers-TheunissenBorut PeterlinStefanie NowakMarkus MartiniTeresa KruseAnton DunscheThomas KreuschLina GölzKhalid AldhoraeEsam S HalboubHeiko Martin ReutterPeter MosseyMarkus M NöthenMichele RubiniKerstin U LudwigMichael KnappElisabeth MangoldPublished in: Birth defects research (2018)
Our findings suggest that there is a limited contribution of common variants to nsCPO. However, the individual effect sizes might be too small for detection of further associations in the present sample sizes. Rare variants may play a more substantial role in nsCPO than in nsCL/P, for which GWAS of smaller sample sizes have identified genome-wide significant loci. Whole-exome/genome sequencing studies of nsCPO are now warranted.