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The identification and exploration of genetic loci that influence smoking behaviors have been conducted primarily in populations of the European ancestry. Here we report results of the first genome-wide association study meta-analysis of smoking behavior in African Americans in the Study of Tobacco in Minority Populations Genetics Consortium (n=32 389). We identified one non-coding single-nucleotide polymorphism (SNP; rs2036527[A]) on chromosome 15q25.1 associated with smoking quantity (cigarettes per day), which exceeded genome-wide significance (β=0.040, s.e.=0.007, P=1.84 × 10−8). This variant is present in the 5′-distal enhancer region of the CHRNA5 gene and defines the primary index signal reported in studies of the European ancestry. No other SNP reached genome-wide significance for smoking initiation (SI, ever vs never smoking), age of SI, or smoking cessation (SC, former vs current smoking). Informative associations that approached genome-wide significance included three modestly correlated variants, at 15q25.1 within PSMA4, CHRNA5 and CHRNA3 for smoking quantity, which are associated with a second signal previously reported in studies in European ancestry populations, and a signal represented by three SNPs in the SPOCK2 gene on chr10q22.1. The association at 15q25.1 confirms this region as an important susceptibility locus for smoking quantity in men and women of African ancestry. Larger studies will be needed to validate the suggestive loci that did not reach genome-wide significance and further elucidate the contribution of genetic variation to disparities in cigarette consumption, SC and smoking-attributable disease between African Americans and European Americans.
Purpose
Endometrial cancer (EC) is the most common gynecologic cancer in the United States. Over the last decade, the incidence rate has been increasing, with a larger increase among blacks. The aim of this study was to compare risk factors for EC in black and white women.
Methods
Data from 7 cohort and 4 case-control studies were pooled. Unconditional logistic regression was used to estimate adjusted odds ratios (OR) and 95% confidence intervals for each risk factor in blacks and whites separately.
Results
Data were pooled for 2,011 black women (516 cases and 1,495 controls) and 19,297 white women (5,693 cases and 13,604 controls). BMI ≥ 30 was associated with an approximate 3-fold increase in risk of EC in both black and white women (ORblack=2.93, 95% CI: 2.11, 4.07 and ORwhite=2.99, 95% CI: 2.74, 3.26). Diabetes was associated with a 30–40% increase in risk among both groups. Increasing parity was associated with decreasing risk of EC in blacks and whites (p-value=0.02 and <0.001, respectively). Current and former smoking was associated with decreased risk of EC among all women. Both black and white women who used oral contraceptives for 10+ years were also at reduced risk of EC (OR=0.49, 95% CI: 0.27, 0.88 and OR=0.69, 95% CI: 0.58, 0.83, respectively). Previous history of hypertension was not associated with EC risk in either group.
Conclusions
The major known risk factors for EC exert similar effects on black and white women. Differences in the incidence rates between the two populations may be due to differences in the prevalence of risk factors.
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