Selection bias in genetic-epidemiological studies of cleft lip and palate

Journal Article · Tue Sep 01 04:00:00 EDT 1992 · American Journal of Human Genetics; (United States)

OSTI ID:5045082

Christensen, K; Holm, N V; Kock, K ^[1]; Olsen, J ^[2]; Fogh-Anderson, P

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1. Odense Univ. (Denmark)
2. Aarhus Univ. (Denmark)

The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

• OSTI ID: 5045082
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:3; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGY
CONGENITAL MALFORMATIONS
DIGESTIVE SYSTEM
GENETICS
MALFORMATIONS
MATHEMATICAL MODELS
ORAL CAVITY
PATHOLOGICAL CHANGES
STATISTICAL MODELS