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Chunk #4 — Methods — Study Populations

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Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers.
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A detailed description of the phenotypes and the procedures used for data extraction and quality control of the WHI dataset is available in our previous PheWAS12. In summary, the initial PheWAS conducted on the WHI cohort that included 360 traits (Supplemental Table 1) related to 12 main categories: Anthropometric traits, Cancer, Cardiovascular Health, Dietary Habits, Drinking Behaviors, Gastrointestinal Health, General Health, Physical Activity, Psychological Traits, Reproductive Health, Smoking Behaviors, and Socioeconomic Status. As further clarified in the Genotype Data section, we considered the WHI SHARe dataset and focused the analysis on individuals of African descent because they represent the large majority of this cohort. The LLFS cohort, which includes individuals of European descent, was used to address replication; we used the same procedures for phenotype extraction and quality control as applied to the WHI cohort. We note in particular, the “hearing loss” item (because this phenotype generated the most relevant result in the PheWAS conducted) was similarly assessed in both cohorts: WHI – “Hearing loss: Symptom was severe; Symptom was moderate; Symptom was mild; Symptom did not occur”; LLFS –