A novel approach for small sample size family-based association studies: sequential tests

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İLK DAĞ Ö., Rajabli F., Dungul D. C., ÖZDAĞ SEVGİLİ H., İLK H. G.

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.19, sa.8, ss.915-920, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 8
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1038/ejhg.2011.51
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.915-920
  • Anahtar Kelimeler: transmission disequilibrium test, sequential probability ratio test, SNPs, simulation study, family-based association study, CASE-PARENTS DESIGN, CLINICAL-TRIALS, DISEQUILIBRIUM, LINKAGE, POWER
  • Ankara Üniversitesi Adresli: Evet

Özet

In this paper, we propose a sequential probability ratio test (SPRT) to overcome the problem of limited samples in studies related to complex genetic diseases. The results of this novel approach are compared with the ones obtained from the traditional transmission disequilibrium test (TDT) on simulated data. Although TDT classifies single-nucleotide polymorphisms (SNPs) to only two groups (SNPs associated with the disease and the others), SPRT has the flexibility of assigning SNPs to a third group, that is, those for which we do not have enough evidence and should keep sampling. It is shown that SPRT results in smaller ratios of false positives and negatives, as well as better accuracy and sensitivity values for classifying SNPs when compared with TDT. By using SPRT, data with small sample size become usable for an accurate association analysis. European Journal of Human Genetics (2011) 19, 915-920; doi:10.1038/ejhg.2011.51; published online 23 March 2011