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Article ; Online: Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes.

Stein, Michelle M / Conery, Mitch / Magnaye, Kevin M / Clay, Selene M / Billstrand, Christine / Nicolae, Raluca / Naughton, Katherine / Ober, Carole / Thompson, Emma E

Scientific reports

2021 Volume 11, Issue 1, Page(s) 1107

Abstract: Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are ...

Abstract	Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are not well understood. We interrogated sex-specific transcriptional responses of peripheral blood leukocytes (PBLs) to innate immune stimulation by lipopolysaccharide (LPS) in 46 male and 66 female members of the Hutterite community, who practice a communal lifestyle. We identified 1217 autosomal and 54 X-linked genes with sex-specific responses to LPS, as well as 71 autosomal and one X-linked sex-specific expression quantitative trait loci (eQTLs). Despite a similar proportion of the 15 HLA genes responding to LPS compared to all expressed autosomal genes, there was a significant over-representation of genes with sex by treatment interactions among HLA genes. We also observed an enrichment of sex-specific differentially expressed genes in response to LPS for X-linked genes compared to autosomal genes, suggesting that HLA and X-linked genes may disproportionately contribute to sex disparities in risk for immune-mediated diseases.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Ethnic Groups ; Female ; Gene Expression Profiling ; Genes, MHC Class I ; Genes, MHC Class II ; Genes, X-Linked ; Humans ; Immunity, Innate ; Leukocytes/immunology ; Leukocytes/metabolism ; Lipopolysaccharides/immunology ; Male ; Middle Aged ; Quantitative Trait Loci ; Sex Characteristics ; Transcription, Genetic ; Young Adult
Chemical Substances	Lipopolysaccharides
Language	English
Publishing date	2021-01-13
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-020-80145-z
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Article ; Online: Altered transcriptional and chromatin responses to rhinovirus in bronchial epithelial cells from adults with asthma.

Helling, Britney A / Sobreira, Débora R / Hansen, Grace T / Sakabe, Noboru J / Luo, Kaixuan / Billstrand, Christine / Laxman, Bharathi / Nicolae, Raluca I / Nicolae, Dan L / Bochkov, Yury A / Gern, James E / Nobrega, Marcelo A / White, Steven R / Ober, Carole

Communications biology

2020 Volume 3, Issue 1, Page(s) 678

Abstract: There is a life-long relationship between rhinovirus (RV) infection and the development and clinical manifestations of asthma. In this study we demonstrate that cultured primary bronchial epithelial cells from adults with asthma (n = 9) show different ... ...

Abstract	There is a life-long relationship between rhinovirus (RV) infection and the development and clinical manifestations of asthma. In this study we demonstrate that cultured primary bronchial epithelial cells from adults with asthma (n = 9) show different transcriptional and chromatin responses to RV infection compared to those without asthma (n = 9). Both the number and magnitude of transcriptional and chromatin responses to RV were muted in cells from asthma cases compared to controls. Pathway analysis of the transcriptionally responsive genes revealed enrichments of apoptotic pathways in controls but inflammatory pathways in asthma cases. Using promoter capture Hi-C we tethered regions of RV-responsive chromatin to RV-responsive genes and showed enrichment of these regions and genes at asthma GWAS loci. Taken together, our studies indicate a delayed or prolonged inflammatory state in cells from asthma cases and highlight genes that may contribute to genetic risk for asthma.
MeSH term(s)	Adult ; Asthma/genetics ; Asthma/metabolism ; Cells, Cultured ; Chromatin/metabolism ; Epithelial Cells/physiology ; Humans ; Respiratory Mucosa/cytology ; Rhinovirus/physiology ; Transcription, Genetic
Chemical Substances	Chromatin
Language	English
Publishing date	2020-11-13
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ISSN	2399-3642
ISSN (online)	2399-3642
DOI	10.1038/s42003-020-01411-4
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Article ; Online: Inverted duplications on acentric markers: mechanism of formation.

Murmann, Andrea E / Conrad, Donald F / Mashek, Heather / Curtis, Chris A / Nicolae, Raluca I / Ober, Carole / Schwartz, Stuart

Human molecular genetics

2009 Volume 18, Issue 12, Page(s) 2241–2256

Abstract: Acentric inverted duplication (inv dup) markers, the largest group of chromosomal abnormalities with neocentromere formation, are found in patients both with idiopathic mental retardation and with cancer. The mechanism of their formation has been ... ...

Abstract	Acentric inverted duplication (inv dup) markers, the largest group of chromosomal abnormalities with neocentromere formation, are found in patients both with idiopathic mental retardation and with cancer. The mechanism of their formation has been investigated by analyzing the breakpoints and the genotypes of 12 inv dup marker cases (three trisomic, six tetrasomic, two polysomic and one X chromosome derived marker) using a combination of fluorescence in situ hybridization, quantitative SNP array and microsatellite analysis. Inv dup markers were found to form either symmetrically with one breakpoint or asymmetrically with two distinct breakpoints. Genotype analyses revealed that all inv dup markers formed from one single chromatid end. This observation is incompatible with the previously suggested model by which the acentric inv dup markers form through inter-chromosomal U-type exchange. On the basis of the identification of DNA sequence motifs with inverted homologies within all observed breakpoint regions, a new general mechanism is proposed for the acentric inv dup marker formation: following a double-strand break an acentric fragment forms, during either meiosis or mitosis. The open DNA end of the acentric fragment is stabilized by the formation of an intra-chromosomal loop promoted by the presence of sequences with inverted homologies. Likely coinciding with the neocentromere formation, this stabilized fragment is duplicated during an early mitotic event, insuring the marker's survival during cell division and its presence in all cells.
MeSH term(s)	Chromosome Aberrations ; Chromosomes, Human/genetics ; DNA Breaks ; Gene Duplication ; Genetic Markers ; Humans ; Intellectual Disability/genetics ; Neoplasms/genetics ; Trisomy
Chemical Substances	Genetic Markers
Language	English
Publishing date	2009-03-31
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddp160
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Zs.A 3469: Show issues

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Article: Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.

Bourgain, Catherine / Hoffjan, Sabine / Nicolae, Raluca / Newman, Dina / Steiner, Lori / Walker, Karen / Reynolds, Rebecca / Ober, Carole / McPeek, Mary Sara

American journal of human genetics

2003 Volume 73, Issue 3, Page(s) 612–626

Abstract: To avoid problems related to unknown population substructure, association studies may be conducted in founder populations. In such populations, however, the relatedness among individuals may be considerable. Neglecting such correlations among individuals ...

Abstract	To avoid problems related to unknown population substructure, association studies may be conducted in founder populations. In such populations, however, the relatedness among individuals may be considerable. Neglecting such correlations among individuals can lead to seriously spurious associations. Here, we propose a method for case-control association studies of binary traits that is suitable for any set of related individuals, provided that their genealogy is known. Although we focus here on large inbred pedigrees, this method may also be used in outbred populations for case-control studies in which some individuals are relatives. We base inference on a quasi-likelihood score (QLS) function and construct a QLS test for allelic association. This approach can be used even when the pedigree structure is far too complex to use an exact-likelihood calculation. We also present an alternative approach to this test, in which we use the known genealogy to derive a correction factor for the case-control association chi2 test. We perform analytical power calculations for each of the two tests by deriving their respective noncentrality parameters. The QLS test is more powerful than the corrected chi2 test in every situation considered. Indeed, under certain regularity conditions, the QLS test is asymptotically the locally most powerful test in a general class of linear tests that includes the corrected chi2 test. The two methods are used to test for associations between three asthma-associated phenotypes and 48 SNPs in 35 candidate genes in the Hutterites. We report a highly significant novel association (P=2.10-6) between atopy and an amino acid polymorphism in the P-selectin gene, detected with the QLS test and also, but less significantly (P=.0014), with the transmission/disequilibrium test.
MeSH term(s)	Alleles ; Asthma/genetics ; Case-Control Studies ; Founder Effect ; Genetic Predisposition to Disease ; Genetic Techniques ; Humans ; P-Selectin/genetics ; P-Selectin/physiology ; Statistics as Topic
Chemical Substances	P-Selectin
Language	English
Publishing date	2003-08-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1086/378208
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Zs.A 107: Show issues

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Article ; Online: Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies.

Hayes, M Geoffrey / Pluzhnikov, Anna / Miyake, Kazuaki / Sun, Ying / Ng, Maggie C Y / Roe, Cheryl A / Below, Jennifer E / Nicolae, Raluca I / Konkashbaev, Anuar / Bell, Graeme I / Cox, Nancy J / Hanis, Craig L

Diabetes

2007 Volume 56, Issue 12, Page(s) 3033–3044

Abstract: Objective: The objective of this study was to identify DNA polymorphisms associated with type 2 diabetes in a Mexican-American population.: Research design and methods: We genotyped 116,204 single nucleotide polymorphisms (SNPs) in 281 Mexican ... ...

Abstract	Objective: The objective of this study was to identify DNA polymorphisms associated with type 2 diabetes in a Mexican-American population. Research design and methods: We genotyped 116,204 single nucleotide polymorphisms (SNPs) in 281 Mexican Americans with type 2 diabetes and 280 random Mexican Americans from Starr County, Texas, using the Affymetrix GeneChip Human Mapping 100K set. Allelic association exact tests were calculated. Our most significant SNPs were compared with results from other type 2 diabetes genome-wide association studies (GWASs). Proportions of African, European, and Asian ancestry were estimated from the HapMap samples using structure for each individual to rule out spurious association due to population substructure. Results: We observed more significant allelic associations than expected genome wide, as empirically assessed by permutation (14 below a P of 1 x 10(-4) [8.7 expected]). No significant differences were observed between the proportion of ancestry estimates in the case and random control sets, suggesting that the association results were not likely confounded by substructure. A query of our top approximately 1% of SNPs (P < 0.01) revealed SNPs in or near four genes that showed evidence for association (P < 0.05) in multiple other GWAS interrogated: rs979752 and rs10500641 near UBQLNL and OR52H1 on chromosome 11, rs2773080 and rs3922812 in or near RALGPS2 on chromosome 1, and rs1509957 near EGR2 on chromosome 10. Conclusions: We identified several SNPs with suggestive evidence for replicated association with type 2 diabetes that merit further investigation.
MeSH term(s)	Adult ; Aged ; DNA/blood ; DNA/genetics ; DNA/isolation & purification ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/mortality ; Female ; Genome, Human ; Genotype ; Glycated Hemoglobin A/analysis ; Humans ; Male ; Mexican Americans/genetics ; Middle Aged ; Mutation ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Reference Values ; Texas/epidemiology ; United States/epidemiology
Chemical Substances	Glycated Hemoglobin A ; DNA (9007-49-2)
Language	English
Publishing date	2007-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80085-5
ISSN	1939-327X ; 0012-1797
ISSN (online)	1939-327X
ISSN	0012-1797
DOI	10.2337/db07-0482
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Article: Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci.

Kurz, Thorsten / Hoffjan, Sabine / Hayes, M Geoffrey / Schneider, Dan / Nicolae, Raluca / Heinzmann, Andrea / Jerkic, Sylvija P / Parry, Rod / Cox, Nancy J / Deichmann, Klaus A / Ober, Carole

The Journal of allergy and clinical immunology

2006 Volume 118, Issue 2, Page(s) 396–402

Abstract: Background: Genome-wide linkage scans to identify asthma susceptibility loci have revealed many linked regions, including a broad region on chromosome 5p.: Objective: To identify a 5p-linked asthma or bronchial hyperresponsiveness (BHR) locus.: ... ...

Abstract	Background: Genome-wide linkage scans to identify asthma susceptibility loci have revealed many linked regions, including a broad region on chromosome 5p. Objective: To identify a 5p-linked asthma or bronchial hyperresponsiveness (BHR) locus. Methods: We performed fine mapping and positional candidate studies of this region in the Hutterites and an outbred case-control sample from Germany by genotyping 89 single nucleotide polymorphisms (SNPs) in 22 genes. SNP and haplotype analyses were performed. Results: Three genes in a distal region (zinc finger RNA binding protein [ZFR], natriuretic peptide receptor C, and a disintegrin and metalloproteinase domain with thrombospondin type 1 motif [ADAMTS12]) were associated with BHR, whereas 4 genes in a proximal region (prolactin receptor, IL-7 receptor [IL7R], leukemia inhibitory factor receptor [LIFR], and prostaglandin E4 receptor [PTGER4]) were associated with asthma symptoms in the Hutterites. Furthermore, nearly the entire original linkage signal in the Hutterites was generated by individuals who had the risk-associated alleles in ZFR3, natriuretic peptide receptor C, ADAMTS12, LIFR, and PTGER4. Variation in ADAMTS12, IL7R, and PTGER4 were also associated with asthma in the outbred Germans, and the frequencies of long-range haplotypes composed of SNPs at ZFR, ADAMTS12, IL7R, LIFR, and PTGER4 were significantly different between both the German and Hutterite cases and controls. There is little linkage disequilbrium between alleles in these 2 regions in either population. Conclusion: These results suggest that a broad region on 5p, separated by >9 Mb, harbors at least 2 and possibly 5 asthma or BHR susceptibility loci. These findings are consistent with the hypothesis that regions providing evidence for linkage in multiple populations may, in fact, house more than 1 susceptibility locus, as appears to be the case for the linked region on 5p. Clinical implications: Identifying asthma or BHR genes could lead to novel therapeutic approaches.
MeSH term(s)	Asthma/epidemiology ; Asthma/genetics ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 5 ; Genetic Predisposition to Disease ; Germany/epidemiology ; Humans ; Polymorphism, Single Nucleotide
Language	English
Publishing date	2006-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	121011-7
ISSN	1085-8725 ; 1097-6825 ; 0091-6749
ISSN (online)	1085-8725 ; 1097-6825
ISSN	0091-6749
DOI	10.1016/j.jaci.2006.04.036
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Article ; Online: Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.

Ober, Carole / Tan, Zheng / Sun, Ying / Possick, Jennifer D / Pan, Lin / Nicolae, Raluca / Radford, Sadie / Parry, Rodney R / Heinzmann, Andrea / Deichmann, Klaus A / Lester, Lucille A / Gern, James E / Lemanske, Robert F / Nicolae, Dan L / Elias, Jack A / Chupp, Geoffrey L

The New England journal of medicine

2008 Volume 358, Issue 16, Page(s) 1682–1691

Abstract: Background: The chitinase-like protein YKL-40 is involved in inflammation and tissue remodeling. We recently showed that serum YKL-40 levels were elevated in patients with asthma and were correlated with severity, thickening of the subepithelial ... ...

Abstract	Background: The chitinase-like protein YKL-40 is involved in inflammation and tissue remodeling. We recently showed that serum YKL-40 levels were elevated in patients with asthma and were correlated with severity, thickening of the subepithelial basement membrane, and pulmonary function. We hypothesized that single-nucleotide polymorphisms (SNPs) that affect YKL-40 levels also influence asthma status and lung function. Methods: We carried out a genomewide association study of serum YKL-40 levels in a founder population of European descent, the Hutterites, and then tested for an association between an implicated SNP and asthma and lung function. One associated variant was genotyped in a birth cohort at high risk for asthma, in which YKL-40 levels were measured from birth through 5 years of age, and in two populations of unrelated case patients of European descent with asthma and controls. Results: A promoter SNP (-131C-->G) in CHI3L1, the chitinase 3-like 1 gene encoding YKL-40, was associated with elevated serum YKL-40 levels (P=1.1 x 10(-13)), asthma (P=0.047), bronchial hyperresponsiveness (P=0.002), and measures of pulmonary function (P=0.046 to 0.002) in the Hutterites. The same SNP could be used to predict the presence of asthma in the two case-control populations (combined P=1.2 x 10(-5)) and serum YKL-40 levels at birth (in cord-blood specimens) through 5 years of age in the birth cohort (P=8.9 x 10(-3) to 2.5 x 10(-4)). Conclusions: CHI3L1 is a susceptibility gene for asthma, bronchial hyperresponsiveness, and reduced lung function, and elevated circulating YKL-40 levels are a biomarker for asthma and decline in lung function.
MeSH term(s)	Adipokines ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asthma/blood ; Asthma/genetics ; Biomarkers/blood ; Bronchial Hyperreactivity/blood ; Bronchial Hyperreactivity/genetics ; Case-Control Studies ; Child ; Chitinase-3-Like Protein 1 ; Female ; Founder Effect ; Genetic Predisposition to Disease ; Genotype ; Glycoproteins/blood ; Glycoproteins/genetics ; Humans ; Lectins ; Male ; Middle Aged ; Phenotype ; Polymorphism, Single Nucleotide ; Pulmonary Ventilation/genetics
Chemical Substances	Adipokines ; Biomarkers ; CHI3L1 protein, human ; Chitinase-3-Like Protein 1 ; Glycoproteins ; Lectins
Language	English
Publishing date	2008-04-09
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMoa0708801
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Article: Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q

Ober, Carole / Nord, Alex S / Thompson, Emma E / Pan, Lin / Tan, Zheng / Cusanovich, Darren / Sun, Ying / Nicolae, Raluca / Edelstein, Celina / Schneider, Daniel H / Billstrand, Christine / Pfaffinger, Ditta / Phillips, Natasha / Anderson, Rebecca L / Philips, Binu / Rajagopalan, Ramakrishnan / Hatsukami, Thomas S / Rieder, Mark J / Heagerty, Patrick J /

Nickerson, Deborah A / Abney, Mark / Marcovina, Santica / Jarvik, Gail P / Scanu, Angelo M / Nicolae, Dan L

Journal of lipid research JLR. 2009 May, v. 50, no. 5

2009

Abstract: Plasma lipoprotein(a) (Lp[a]) level is an independent risk factor of cardiovascular disease that is under strong genetic control. We conducted a genome-wide association study of plasma Lp(a) in 386 members of a founder population that adheres to a ... ...

Abstract	Plasma lipoprotein(a) (Lp[a]) level is an independent risk factor of cardiovascular disease that is under strong genetic control. We conducted a genome-wide association study of plasma Lp(a) in 386 members of a founder population that adheres to a communal lifestyle, proscribes cigarette smoking, and prepares and eats meals communally. We identified associations with 77 single nucleotide polymorphisms (SNPs) spanning 12.5 Mb on chromosome 6q26-q27 that met criteria for genome-wide significance (P [less-than or equal to] 1.3 x 10⁻⁷) and were within or flanking nine genes, including LPA. We show that variation in at least six genes in addition to LPA are significantly associated with Lp(a) levels independent of each other and of the kringle IV repeat polymorphism in the LPA gene. One novel SNP in intron 37 of the LPA gene was also associated with Lp(a) levels and carotid artery disease number in unrelated Caucasians (P = 7.3 x 10⁻¹² and 0.024, respectively), also independent of kringle IV number. This study suggests a complex genetic architecture of Lp(a) levels that may involve multiple loci on chromosome 6q26-q27.
Language	English
Dates of publication	2009-05
Size	p. 798-806.
Publishing place	American Society for Biochemistry and Molecular Biology
Document type	Article
ZDB-ID	80154-9
ISSN	1539-7262 ; 0022-2275
ISSN (online)	1539-7262
ISSN	0022-2275
Database	NAL-Catalogue (AGRICOLA)

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Zs.A 175: Show issues

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Article: Are common disease susceptibility alleles the same in outbred and founder populations?

Newman, Dina L / Hoffjan, Sabine / Bourgain, Catherine / Abney, Mark / Nicolae, Raluca I / Profits, Elle T / Grow, Michael A / Walker, Karen / Steiner, Lori / Parry, Rodney / Reynolds, Rebecca / McPeek, Mary Sara / Cheng, Suzanne / Ober, Carole

European journal of human genetics : EJHG

2004 Volume 12, Issue 7, Page(s) 584–590

Abstract: Founder populations have been the subjects of complex disease studies because of their decreased genetic heterogeneity, increased linkage disequilibrium and more homogeneous environmental exposures. However, it is possible that disease alleles identified ...

Abstract	Founder populations have been the subjects of complex disease studies because of their decreased genetic heterogeneity, increased linkage disequilibrium and more homogeneous environmental exposures. However, it is possible that disease alleles identified in founder populations may not contribute significantly to susceptibility in outbred populations. In this study we examine the Hutterites, a founder population of European descent, for 103 polymorphisms in 66 genes that are candidates for cardiovascular or inflammatory diseases. We compare the frequencies of alleles at these loci in the Hutterites to their frequencies in outbred European-American populations and test for associations with cardiovascular disease-associated phenotypes in the Hutterites. We show that alleles at these loci are found at similar frequencies in the Hutterites and in outbred populations. In addition, we report associations between 39 alleles or haplotypes and cardiovascular disease phenotypes (P<0.05), with five loci remaining significant after adjusting for multiple comparisons. These data indicate that this founder population is informative and offers considerable advantages for genetic studies of common complex diseases.
MeSH term(s)	Cardiovascular Diseases/genetics ; Case-Control Studies ; European Continental Ancestry Group/genetics ; Female ; Founder Effect ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genetics, Population ; Humans ; Linkage Disequilibrium/genetics ; Male ; Polymorphism, Genetic
Language	English
Publishing date	2004-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/sj.ejhg.5201191
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Zs.A 3589: Show issues

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Article: Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.

Hoffjan, Sabine / Ostrovnaja, Irina / Nicolae, Dan / Newman, Dina L / Nicolae, Raluca / Gangnon, Ronald / Steiner, Lori / Walker, Karen / Reynolds, Rebecca / Greene, Deborah / Mirel, Daniel / Gern, James E / Lemanske, Robert F / Ober, Carole

The Journal of allergy and clinical immunology

2004 Volume 113, Issue 3, Page(s) 511–518

Abstract: Background: Asthma is a chronic respiratory disease that often originates in early childhood. Although candidate gene studies have identified many potential asthma susceptibility genes in adult populations, few have studied associations with immune ... ...

Abstract	Background: Asthma is a chronic respiratory disease that often originates in early childhood. Although candidate gene studies have identified many potential asthma susceptibility genes in adult populations, few have studied associations with immune phenotypes in the first year that might be early clinical markers of asthma. Objective: The aim of this study was to assess the contribution of genetic variation to cytokine response profiles and atopic phenotypes in the first year of life in the Childhood Origin of Asthma cohort. Methods: Two hundred seven European American children participating in the Childhood Origin of Asthma study were genotyped for 61 single nucleotide polymorphisms in 35 genes involved in immune regulation. We examined the relationship between these single nucleotide polymorphisms and PHA-induced cytokine (IL-5, IL-10, IL-13, and IFN-gamma) response profiles at birth and at year 1, respiratory syncytial virus-induced wheezing and atopic dermatitis in the first year of life, and total IgE levels, peripheral blood eosinophil counts, and allergic sensitization at age 1 year. The data were analyzed by using censored regression for quantitative measurements and logistic regression for qualitative phenotypes. Results: The 237Gly allele of the high-affinity IgE receptor beta chain (FCER1B) and a silent substitution in the nitric oxide synthase (NOS)2A gene were associated with reduced IL-13 responses in cord blood (P = .0025 and P = .0062, respectively). A significant gene-gene interaction between FCER1B 237Gly and NOS2A D346D was detected, with individuals carrying the minor allele for both polymorphisms having the lowest cord blood IL-13 levels. Furthermore, the IL13 110Gln allele showed an association with increased IgE levels at year 1 (P = .0026), and the colony-stimulating factor 2 (CSF2) 117Thr allele showed an association with a greater increase in IL-5 responses during the first year (P = .0092). The TGF-beta1 (TGFB1) -509T allele was associated with respiratory syncytial virus-related wheezing in the first year (P = .0005). None of the polymorphisms included in this study were associated with atopic dermatitis during the first year or a positive RAST result at 1 year of age. Conclusion: These data suggest that variations in genes involved in immune regulation are associated with biologic and clinical phenotypes in the first year of life that might increase the risk for the subsequent development of childhood asthma.
MeSH term(s)	Alleles ; Asthma/genetics ; Asthma/immunology ; Cohort Studies ; Cytokines/blood ; Female ; Fetal Blood/immunology ; Genes, MHC Class II ; Genetic Variation ; Humans ; Hypersensitivity, Immediate/genetics ; Hypersensitivity, Immediate/immunology ; Immunoglobulin E/blood ; In Vitro Techniques ; Infant ; Infant, Newborn ; Male ; Phenotype ; Polymorphism, Single Nucleotide
Chemical Substances	Cytokines ; Immunoglobulin E (37341-29-0)
Language	English
Publishing date	2004-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	121011-7
ISSN	1085-8725 ; 1097-6825 ; 0091-6749
ISSN (online)	1085-8725 ; 1097-6825
ISSN	0091-6749
DOI	10.1016/j.jaci.2003.10.044
Database	MEDical Literature Analysis and Retrieval System OnLINE

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