title: Case-control and family-based association studies of novel susceptibility locus 8q24 in nonsyndromic cleft lip with or without cleft palate in a Southern Han Chinese population located in Guangdong Province.
abstract: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital malformations and a susceptibility locus on chromosome 8q24 has been replicated as a genetic risk factor for NSCL/P in patients of European and Asian descent. However, given considerable variations in allele frequencies across geographical regions studied, the aim of this study was to investigate the association of rs987525 located at 8q24 with NSCL/P only among the southern Han Chinese population from Guangdong province. We recruited 216 NSCL/P cases, their parents, and 200 controls to conduct case-control analysis and family-based association studies. Genotyping of rs987525 was carried out by the matrix assisted laser desorption ionization-time of flight mass spectrometry method. Case-control analysis showed allele and genotype distributions for rs987525 were not significantly associated with the risk of NSCL/P in our study population. Similar results were found when all cases were stratified into cleft lip only and cleft lip with cleft palate. A transmission disequilibrium test showed no statistically significant transmission of A nor C alleles and family-based association test (FBAT) analysis provided no evidence of NSCL/P risk with single markers. These results do not provide evidence for an association between rs987525 at 8q24 and the risk of NSCL/P in the southern Han Chinese population from Guangdong province.
authors: Cleft Lip and Palate Treatment Centre, the Second Affiliated Hospital of Shantou University Medical College, Shantou, People's Republic of China.
authors: Ming Yan
authors: MY
authors: Xu
authors: Xiao Ling
authors: XL
authors: Deng
authors: Laila Jal
authors: LJ
authors: Tata
authors: Hui
authors: H
authors: Han
authors: Xi He
authors: XH
authors: Chen
authors: Ting Ying
authors: TY
authors: Liu
authors: Qing Shan
authors: QS
authors: Chen
authors: Xiao Wu
authors: XW
authors: Yao
authors: Shi Jie
authors: SJ
authors: Tang
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002971:Cleft Lip / Q000453:epidemiology* / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology* / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D004247:DNA