Differential Parental Transmission of Markers in BCL3  among Korean Cleft Case-parent Trios

박병윤; 박정용; Terri H Beaty; 지선하; 설재웅

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자료유형: 학술저널

저자정보: 박병윤 박정용 Terri H Beaty 지선하 설재웅

저널정보: 대한예방의학회 예방의학회지 예방의학회지 제42권 제1호

발행연도: 2009.1

수록면: 1 - 4 (4page)

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Objectives : Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3 (BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Methods : Forty case-parent trios were genotyped for two single nucleotide polymorphisms (SNPs) in the BCL3 gene. We performed a transmission disequilibrium test (TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. Results : The odds ratio for transmission of the minor allele, OR (transmission), was significant for SNP rs8100239 (OR=3.50, p=0.004) and rs2965169 (OR=2.08, p=0.027) when parent-of-origin was not considered. Parentspecific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. Conclusions : BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.

#BCL3 #Oral cleft #Maternal transmission effects #Parent-of-origin

참고문헌 (24)

참고문헌 신청

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Beaty TH, Wang H / 2001 / A case-control study of nonsyndromic oral clefts in Maryland / Ann Epidemiol 11 (6) : 434 ~ 442

Becker T / 2004 / Maximum-likelihood estimation of haplotype frequencies in nuclear families / Genet Epidemiol 27 (1) : 21 ~ 32

Bellus GA / 1995 / Achondroplasia is defined by recurrent G380R mutations of FGFR3 / Am J Hum Genet 56 (2) : 368 ~ 373

Carinci F / 2007 / Human genetic factors in nonsyndromic cleft lip and palate: An update / Int J Pediatr Otorhinolaryngol 71 (10) : 1509 ~ 1519

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