Prevalence in the United States of Selected Candidate Gene Variants: Third National Health and Nutrition Examination Survey, 1991-1994

Abstract

Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes. Population-based prevalence estimates also provide the basis for epidemiologic studies of gene–disease associations, for estimating population attributable risk, and for informing health policy and clinical and public health practice. However, such prevalence estimates for genotypes important to public health remain undetermined for the major racial and ethnic groups in the US population. DNA was collected from 7,159 participants aged 12 years or older in Phase 2 (1991–1994) of the Third National Health and Nutrition Examination Survey (NHANES III). Certain age and minority groups were oversampled in this weighted, population-based US survey. Estimates of allele frequency and genotype prevalence for 90 variants in 50 genes chosen for their potential public health significance were calculated by age, sex, and race/ethnicity among non-Hispanic whites, non-Hispanic blacks, and Mexican Americans. These nationally representative data on allele frequency and genotype prevalence provide a valuable resource for future epidemiologic studies in public health in the United States.

Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review

“…9 The F5 variant is virtu ally absent in native Asian and African populations, and F2 is rare. 8,10 Individuals having two copies of the F5 or F2 variants (approximately 1 in 1,000 and <1 in 8,000 whites, respectively), review or one of each variant, are much less common.…”

“…8,10 Individuals having two copies of the F5 or F2 variants (approximately 1 in 1,000 and <1 in 8,000 whites, respectively), review or one of each variant, are much less common. 9 A thrombotic pathogenesis for pregnancy loss proposes that one or two cop ies of these variants could enhance the existing hypercoagulable state in pregnant women and that impaired fetal circulation or thrombotic vasculopathy in the placenta could result in placen tamediated pregnancy complications and fetal loss. 3,4,11,12 F5 and F2 are the most frequently ordered genetic variants associated with RPL 13,14 but does the accumulated knowledge base support the broadbased use of these tests to screen women with RPL to identify those who may benefit from specific man agement or treatment?…”

Estimating the contribution of genetic variants to difference in incidence of disease between population groups

“…The authors found significant differences in allele frequency (in 88 of 90 genetic variants) and genotype prevalence (in 87 of 90 genetic variants). 5 Non-Hispanic blacks had considerable differences in minor allele frequency compared with nonHispanic whites, with almost one-quarter of variants differing by at least 20% (absolute difference). 5 Ioannidis et al 6 assessed 43 meta-analyses of gene-disease associations from the candidate gene era across 697 study populations of various ethnicities and found that frequencies of polymorphisms in seven cardiovascular disease genes varied significantly between ethnicities.…”

“…5 Non-Hispanic blacks had considerable differences in minor allele frequency compared with nonHispanic whites, with almost one-quarter of variants differing by at least 20% (absolute difference). 5 Ioannidis et al 6 assessed 43 meta-analyses of gene-disease associations from the candidate gene era across 697 study populations of various ethnicities and found that frequencies of polymorphisms in seven cardiovascular disease genes varied significantly between ethnicities. However, they observed large heterogeneity in the genetic effects (odds ratios) between ethnicities in only 14% of the cases indicating that their biological impact on the risk for common diseases may usually be consistent across traditional 'racial' boundaries.…”

Racial/Ethnic Variation in the Association of Lipid-Related Genetic Variants With Blood Lipids in the US Adult Population

“…More details on the construction of the GRS are available in the online-only Data Supplement. 28,29 Allele frequencies were calculated and weighted using NHANES III sample weights for each variant, stratifying by racial/ethnic group. Racial/ethnic differences in allele frequencies were tested in pooled data from all racial/ethnic groups using the Satterthwaite-adjusted F test in polytomous logistic regression.…”