TY - JOUR
T1 - Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families
AU - Marazita, Mary L.
AU - Field, L. Leigh
AU - Cooper, Margaret E.
AU - Tobias, Rose
AU - Maher, Brion S.
AU - Peanchitlertkajorn, Supakit
AU - Liu, You E.
N1 - Funding Information:
We thank the families and family members who participated in these studies. We also thank Jessica Sank, for her assistance with data checking, and Roberta Giles, for assistance with database issues and pedigrees. This study was supported by National Institutes of Health grant DE09886. Some of the results in this article were obtained by the program package S.A.G.E., supported by U.S. Public Health Service Resource Grant 1-P41-RR03655 from the National Center for Research Resources. Genotyping was provided by the Mammalian Genotyping Service of Marshfield Lab, funded by the National Heart, Lung and Blood Institute.
PY - 2002
Y1 - 2002
N2 - Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in Asian populations than in populations of European descent. Therefore, it is of interest to determine whether the CL/P etiological factors in Asian populations differ from those in white populations. A sample of 36 multiplex families were ascertained through probands with CL/P who were from Shanghai. This is the first reported genome-scan study of CL/P in any Asian population. Genotyping of Weber Screening Set 9 (387 short tandem-repeat polymorphisms with average spacing ∼9 cM [range 1-19 cM]) was performed by the Mammalian Genotyping Service of Marshfield Laboratory. Presented here are the results for the 366 autosomal markers. Linkage between each marker and CL/P was assessed by two-point and multipoint LOD scores, as well as with multipoint heterogeneity LOD scores (HLODs) plus model-free identity-by-descent statistics and the multipoint NPL statistic. In addition, association was assessed via the transmission/disequilibrium test. LOD-score and HLOD calculations were performed under a range of models of inheritance of CL/P. The following regions had positive multipoint results (HLOD ≥1.0 and/or NPL P ≤. 05): chromosomes 1 (90-110 cM), 2 (220-250 cM), 3 (130-150 cM), 4 (140-170 cM), 6 (70-100 cM), 18 (110 cM), and 21 (30-50 cM). The most significant multipoint linkage results (HLOD ≥2.0; α = 0.37) were for chromosomes 3q and 4q. Associations with P ≤. 05 were found for loci on chromosomes 3, 5-7, 9, 11, 12, 16, 20, and 21. The most significant association result (P =. 009) was found with D16S769 (51 cM).
AB - Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in Asian populations than in populations of European descent. Therefore, it is of interest to determine whether the CL/P etiological factors in Asian populations differ from those in white populations. A sample of 36 multiplex families were ascertained through probands with CL/P who were from Shanghai. This is the first reported genome-scan study of CL/P in any Asian population. Genotyping of Weber Screening Set 9 (387 short tandem-repeat polymorphisms with average spacing ∼9 cM [range 1-19 cM]) was performed by the Mammalian Genotyping Service of Marshfield Laboratory. Presented here are the results for the 366 autosomal markers. Linkage between each marker and CL/P was assessed by two-point and multipoint LOD scores, as well as with multipoint heterogeneity LOD scores (HLODs) plus model-free identity-by-descent statistics and the multipoint NPL statistic. In addition, association was assessed via the transmission/disequilibrium test. LOD-score and HLOD calculations were performed under a range of models of inheritance of CL/P. The following regions had positive multipoint results (HLOD ≥1.0 and/or NPL P ≤. 05): chromosomes 1 (90-110 cM), 2 (220-250 cM), 3 (130-150 cM), 4 (140-170 cM), 6 (70-100 cM), 18 (110 cM), and 21 (30-50 cM). The most significant multipoint linkage results (HLOD ≥2.0; α = 0.37) were for chromosomes 3q and 4q. Associations with P ≤. 05 were found for loci on chromosomes 3, 5-7, 9, 11, 12, 16, 20, and 21. The most significant association result (P =. 009) was found with D16S769 (51 cM).
UR - http://www.scopus.com/inward/record.url?scp=0036079141&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036079141&partnerID=8YFLogxK
U2 - 10.1086/341944
DO - 10.1086/341944
M3 - Article
C2 - 12087515
AN - SCOPUS:0036079141
SN - 0002-9297
VL - 71
SP - 349
EP - 364
JO - American journal of human genetics
JF - American journal of human genetics
IS - 2
ER -