Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Jul;40(7):2307-12.
doi: 10.1161/STROKEAHA.109.554121. Epub 2009 Jun 4.

Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis

Ralph L Sacco  1 , Susan H Blanton, Susan Slifer, Ashley Beecham, Khaleelah Glover, Hannah Gardener, Liyong Wang, Edison Sabala, Suh-Hang Hank Juo, Tatjana Rundek
Affiliations

Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis

Ralph L Sacco et al. Stroke. 2009 Jul.

Abstract

Background and purpose: The aim of this study was to identify quantitative trait loci (QTL) for carotid intima-media thickness (CIMT) a risk factor for stroke and cardiovascular disease.

Methods: Probands were selected from Caribbean Hispanic subjects of the population-based Northern Manhattan Study. CIMT was measured by high-resolution B-mode ultrasound and expressed as the mean (IMTx) and mean of the maximum (IMTm). Variance components methodology was used to detect linkage using SOLAR and calculate locus-specific heritability. Ordered-subset Analysis was done based on history of hypertension and total cholesterol levels.

Results: Among 100 Dominican families, 1390 subjects had CIMT measured (848 females; mean age 46.2 years). CIMT had a heritability of 0.65 after adjusting for age, age(2), sex, cigarette pack-years, waist hip ratio, and BMI. Adjusted maximum multipoint LOD scores >2 were found on chromosomes 14q (D14S606) and 7p (D7S817). Linkage to chromosome 14q was significantly increased in a subset of families with the greatest history of hypertension (MLOD=4.12). The QTL on Ch14q accounted for 0.21 of the heritability of IMTm, and on Ch7p 0.27 of the heritability of BIFm.

Conclusions: Several QTLs for CIMT were found on chromosomes 7p and 14q. The QTL on 14q replicates a suggestive linkage peak delimited in the Framingham Heart Study. These QTLs accounted for a substantial amount of trait heritability and warrant further fine mapping.

PubMed Disclaimer

Conflict of interest statement

Disclosures: The authors have no conflicts of interest to disclose regarding this work.

Figures

Figure 1
Figure 1
(a) Maximum multipoint linkage results for mean overall IMT (IMTx) and at individual carotid sites (common carotid CCA, internal carotid ICA, and carotid bifurcations (BIF). (b) Maximum multipoint linkage results for mean of the maximum measurements for overall IMTm and the specific segments.
Figure 1
Figure 1
(a) Maximum multipoint linkage results for mean overall IMT (IMTx) and at individual carotid sites (common carotid CCA, internal carotid ICA, and carotid bifurcations (BIF). (b) Maximum multipoint linkage results for mean of the maximum measurements for overall IMTm and the specific segments.
Figure 2
Figure 2
a, b: Multipoint linkage plots for chromosome 7p and 14q for our IMT traits including OSA by the prevalence of elevated systolic BP > 140
Figure 2
Figure 2
a, b: Multipoint linkage plots for chromosome 7p and 14q for our IMT traits including OSA by the prevalence of elevated systolic BP > 140
See this image and copyright information in PMC

References

    1. Arnett DK, Baird AE, Barkley RA, Basson CT, Boerwinkle E, Ganesh SK, Herrington DM, Hong Y, Jaquish C, McDermott DA, O'Donnell CJ. Relevance of genetics and genomics for prevention and treatment of cardiovascular disease. Circulation. 2007;115:2878–901. - PubMed

    1. http://www.ninds.nih.gov/find_people/groups/stroke_prg/index.htm.

    1. Chambless LE, Folsom AR, Clegg LX, Sharrett AR, Shahar E, Nieto FJ, Rosamond WD, Evans G. Carotid wall thickness is predictive of incident clinical stroke: the Atherosclerosis Risk in Communities (ARIC) study. Am J Epidemiol. 2000;151:478–487. - PubMed
    1. Zureik M, Ducimetiere P, Touboul PJ, Courbon D, Bonithon-Kopp C, Berr C, Magne C. Common carotid intima-media thickness predicts occurrence of carotid atherosclerotic plaques: longitudinal results from the Aging Vascular Study (EVA) study. Arterioscler Thromb Vasc Biol. 2000;20:1622–1629. - PubMed
    1. O'Leary DH, Polak JF, Kronmal RA, et al. Carotid-artery intima and media thickness as a risk factor for myocardial infarction and stroke in older adults. N Engl J Med. 1999;340:14–24. - PubMed

Publication types

MeSH terms