caa a22 4500 378926101 CHVBK 20180305123617.0 cr unu---uuuuu 161128e20041007xx s 000 0 eng 10.2202/1544-6115.1056 doi (NATIONALLICENCE)gruyter-10.2202/1544-6115.1056 A Method for Evaluating the Impact of Individual Haplotypes on Disease Incidence in Molecular Epidemiology Studies [Elektronische Daten] [E. S Venkatraman, Nandita Mitra, Colin B Begg] Estimation of the association between haplotypes and disease from a case-control study is considered. Assuming a single "disease haplotype" leads to the increased risk, attention focusses on the relative risks associated with a single copy, or two copies of the disease haplotype, relative to individuals with no copies. In this setting, case frequencies of the haplotype pairs are in Hardy-Weinberg Equilibrium (HWE) only if the combined influence of the two copies of the disease haplotype on risk is multiplicative. Thus, imputation cannot rely on the assumption of HWE for cases. A method is presented for obtaining estimates of the relative risks, making use of the EM algorithm and the assumption of HWE only for controls. The method accounts for the additional variation in the estimates due to the imputation of expected frequencies of haplotype pairs from ambiguous genotypes. A simulation study shows that the resulting confidence intervals have nominal coverage, and that the methods based on the assumption of HWE for both cases and controls can lead to bias. ©2011 Walter de Gruyter GmbH & Co. KG, Berlin/Boston Genetics nationallicence Epidemiology nationallicence case-control nationallicence haplotype nationallicence Venkatraman E. S. Memorial Sloan-Kettering Cancer Center aut Mitra Nandita Memorial Sloan-Kettering Cancer Center aut Begg Colin B. Memorial Sloan-Kettering Cancer Center aut Statistical Applications in Genetics and Molecular Biology De Gruyter 3/1(2004-10-07), 1-20 3:1<1 2004 3 sagmb https://doi.org/10.2202/1544-6115.1056 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.2202/1544-6115.1056 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Venkatraman E. S. Memorial Sloan-Kettering Cancer Center aut NATIONALLICENCE 700 1- Mitra Nandita Memorial Sloan-Kettering Cancer Center aut NATIONALLICENCE 700 1- Begg Colin B. Memorial Sloan-Kettering Cancer Center aut NATIONALLICENCE 773 0- Statistical Applications in Genetics and Molecular Biology De Gruyter 3/1(2004-10-07), 1-20 3:1<1 2004 3 sagmb CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter