61 Result(s)

Article

Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families

It has been reported that BCL3 on chromosome 19q, or a nearby gene, may play a role in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in some families. We tested 30 USA and 11 M...

D. F. Wyszynski, Nancy Maestri, Iain McIntosh, E. Anne Smith… in Human Genetics (1996)

Article

Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography

Elevated levels of homocysteine is a risk factor for coronary artery disease. Polymorphic alleles in the MTHFR genes that cause recessively inherited increased homocysteine level can explain only a small prop...

Sun Jee, Kyung Song, Won Shim, Hyun Kim, Il Suh, Jung Park, So Won… in Human Genetics (2002)

Article

Spouse controls in family case-control studies: a methodological consideration

In case-control studies on familial aggregation of disease, spouses may be chosen as convenient controls. In this article the pros and cons of this control group are discussed. It is argued that the use of spo...

Bas A. J. Verhage, Katja K. H. Aben, Huub Straatman, André L. M. Verbeek… in Familial Cancer (2003)

Article

Evidence for asthma susceptibility genes on chromosome 11 in an African-American population

Initial genome-wide scan data provided suggestive evidence for linkage of the asthma phenotype in African-American (AA), but not Caucasian, families to chromosome 11q markers (peak at D11S1985; LOD=2). To refi...

Shau-Ku Huang, Rasika A. Mathias, Eva Ehrlich, Beverly Plunkett, **n Liu… in Human Genetics (2003)

Article

Sex differences in heritability of sensitization to Blomia tropicalis in asthma using regression of offspring on midparent (ROMP) methods

A genetic basis for asthma- and atopy-related quantitative traits, such as allergen-specific immunoglobulin E (IgE) levels, has been suggested by the observed familial aggregation of these traits in temperate ...

Teri A. Manolio, Kathleen C. Barnes, Terri H. Beaty, Paul N. Levett… in Human Genetics (2003)

Article

A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma

Atopy is an IgE-mediated condition known to aggregate in families and is a major risk factor for asthma. As part of the Collaborative Study on the Genetics of Asthma (CSGA), a genome-wide scan for atopy, defin...

Malcolm N. Blumenthal, Carl D. Langefeld, Terri H. Beaty… in Human Genetics (2004)

Article

Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms

This study examined the association between markers in transforming growth factor alpha (TGFA) and isolated, non-syndromic cleft lip with/without palate (CL/P) using a case–parent trio design, considering parent-...

Jae Woong Sull, Kung-Yee Liang, Jacqueline B. Hetmanski, Tao Wu… in Human Genetics (2009)

Article

Genetic variants in the mannose receptor gene (MRC1) are associated with asthma in two independent populations

Mannose receptor is a member of the C-type lectin receptor family involved in pathogen molecular pattern recognition and thought to be critical in sha** host immune responses and maintaining homeostasis. The...

Takeshi Hattori, Satoshi Konno, Nobuyuki Hizawa, Akira Isada… in Immunogenetics (2009)

Chapter

Genetic Epidemiology

In this chapter, we describe both the historical and contemporary terminologies that reflect the evolving field of genetic epidemiology. We discuss the conduct of family-based studies to identify high-penetran...

Sophia S. Wang, Terri H. Beaty, Muin J. Khoury in Vogel and Motulsky's Human Genetics (2010)

Article

Variants in FAM13A are associated with chronic obstructive pulmonary disease

Michael Cho and colleagues report a genome-wide association study for chronic obstructive pulmonary disease, identifying a susceptibility locus at chromosome 4q22.1 in FAM13A.

Michael H Cho, Nadia Boutaoui, Barbara J Klanderman, Jody S Sylvia… in Nature Genetics (2010)

Article

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Terri Beaty and colleagues report a genome-wide association study of cleft lip with/without cleft palate. They identified variants near MAFB and ABCA4 associated with risk of this birth defect in case-parent trio...

Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Ronald G Munger… in Nature Genetics (2010)

Article

Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate

Although multiple genes have been identified as genetic risk factors for isolated, non-syndromic cleft lip with/without cleft palate (CL/P), a complex and heterogeneous birth defect, interferon regulatory fact...

Tao Wu, Kung Yee Liang, Jacqueline B. Hetmanski, Ingo Ruczinski… in Human Genetics (2010)

Article

Cleft lip and palate: understanding genetic and environmental influences

Article

Recombination rates in admixed individuals identified by ancestry-based inference

John Novembre and colleagues present a new approach for constructing recombination maps based on ancestry switch points among individuals. They construct a high-resolution genome-wide recombination map based o...

Daniel Wegmann, Darren E Kessner, Krishna R Veeramah, Rasika A Mathias… in Nature Genetics (2011)

Protocol

Detecting Familial Aggregation

Beyond calculating parameter estimates to characterize the distribution of genetic features of populations (frequencies of mutations in various regions of the genome, allele frequencies, measures of Hardy–Wein...

Adam C. Naj, Yo Son Park, Terri H. Beaty in Statistical Human Genetics (2012)

Article

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Cathy Laurie and colleagues detect mosaicism for large chromosomal abnormalities in peripheral blood in a subset of healthy individuals. They show that the frequency of such events increases with age and is as...

Cathy C Laurie, Cecelia A Laurie, Kenneth Rice, Kimberly F Doheny… in Nature Genetics (2012)

Article

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Elisabeth Mangold and colleagues report a genome-wide meta-analyses of non-syndromic cleft lip with or without cleft palate (NSCL/P). They report six new genetic loci associated with risk for NSCL/P.

Kerstin U Ludwig, Elisabeth Mangold, Stefan Herms, Stefanie Nowak… in Nature Genetics (2012)