Detection of disease genes by use of farnily data II. Application to nuclear families

I. Ping Tu, Raymond R. Balise, Alice S. Whittemore

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Two likelihood-based score statistics are used to detect association between a disease and a single diallelic polymorphism, on the basis of data from arbitrary types of nuclear families. The first statistic, the nonfounder statistic, extends the transmission/disequilibrium test to accommodate affected and unaffected offspring and missing parental genotypes. The second statistic, the founder statistic, compares observed or inferred parental genotypes with those of some reference population. In this comparison, the genotypes of affected parents or of those with many affected offspring are weighted more heavily than are the genotypes of unaffected parents or of those with few affected offspring. Genotypes of single unrelated cases and controls can be included in this analysis. We illustrate the two statistics by applying them to data on a polymorphism of the SDR5A2 gene in nuclear families with multiple cases of prostate cancer. We also use simulations to compare the power of the nonfounder statistic with that of the score statistic, on the basis of the conditional logistic regression of offspring genotypes.

Original languageEnglish (US)
Pages (from-to)1341-1350
Number of pages10
JournalAmerican journal of human genetics
Issue number4
StatePublished - 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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