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An update on the genetics of atopic dermatitis: Scratching the surface in 2009
Continuing Medical Education examination
An update on the genetics of atopic dermatitis: Scratching the surface in 2009 Instructions for category 1 Continuing Medical Education credit The American Academy of Allergy, Asthma & Immunology is accredited as a provider of Continuing Medical Education (CME) by the Accreditation Council for Continuing Medical Education. Test ID no.: mai00190 Contact hours: 1.0 Expiration date: December 31, 2011 Category 1 credit can be earned by reading the text material and taking this CME examination online. For complete instructions, visit the Journal’s Web site at www.jacionline.org.
The Editors thank the Medical College of Georgia Allergy-Immunology training program for developing this CME examination. The individuals who contributed to its preparation were Deidre Crocker, MD, William Dolen, MD, Karthik Krishnan, MD, Dennis Ownby, MD, Jason Perry, MD, Lawrence Potter, MD, Lakshmi Reddy, MD, Philip Smith, MD, and Turkessa Walker, MD.
Learning objectives: ‘‘An update on the genetics of atopic dermatitis: Scratching the surface in 2009’’ 1. To become familiar with traditional and newer methods used to identify candidate genes for atopic dermatitis (AD). 2. To recognize the role of the innate and adaptive immune response in the development of AD. 3. To understand the contribution of skin barrier gene dysfunctions in the susceptibility of AD.
CME items Question 1. An investigator wishes to identify molecular signatures for complex diseases not identified by a gene-by-gene approach. Which of the following methods would be most appropriate? A. candidate gene association B. family-based linkage C. genome-wide linkage D. high-throughput gene profiling Question 2. What technique would a researcher use to conduct expression profiling of all known genes in the human genome? A. comparative genomic hybridization B. genome-wide microarray C. positional cloning D. single nucleotide polymorphism (SNP) for SNP approach Question 3. Increased susceptibility to infections and cutaneous colonization with bacteria suggest dysfunction of which of the following immune system genes? A. CD13 B. GATA4 C. NOD1 (nucleotide-binding oligomerization domain 1) D. TLR9 (Toll-like receptor 9)
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Question 4. What is a disadvantage of genome-wide linkage analyses? A. Genome-wide linkage analyses are hypothesis-dependent. B. Genome-wide linkage analyses are not cost-effective because they require large numbers (thousands) of markers. C. Genome-wide linkage analyses cannot detect genes with minimal or modest effect. D. Positional cloning has to be performed before genomewide linkage analysis. Question 5. Why should candidate gene studies for AD be interpreted with great caution? A. It is more difficult to amass reasonably powered groups of cases and control subjects than in family-based studies. B. Negative association studies are rarely published. C. There is less power to detect true associations once the gene has been identified. D. They are susceptible to confounding because of survival bias. Question 6. A 9-year-old boy has AD associated with a filaggrin (FLG) null mutation. Because of that mutation, this patient is most at risk to develop which of the following skin infections? A. cutaneous candidiasis B. disseminated cutaneous herpes simplex virus C. localized molluscum contagiosum lesion D. Staphylococcus aureus skin abscess J ALLERGY CLIN IMMUNOL
J ALLERGY CLIN IMMUNOL VOLUME 125, NUMBER 1
Question 7. Which of the following persons is at highest risk of AD? A. a child whose father has AD B. a child whose grandfather has allergic rhinitis and whose father has asthma C. a child whose mother has asthma D. a child whose siblings have AD and allergic rhinitis Question 8. Mapping of the human genome has allowed examination of larger and more diverse populations of patients with AD. The International Haplotype Map has identified common genetic polymorphisms within the human genome. Haplotype blocks were found to have significant diversity at the SNP level as a result of random mutations in different populations. What is the major implication of this finding? A. A single-locus approach will be successful in identifying candidate genes. B. Replicating a single candidate locus across study populations will be less likely. C. Researchers will no longer need to consider interactions among multiple polymorphisms that might contribute to final genetic expression. D. Studies will no longer need to consider phenotype in patient populations.
BARNES 31
Question 9. In genetic association studies of patients with AD, which gene is most consistently associated with AD? A. FLG B. FLG2 (ifapsoriasin) C. IVL (involucrin) D. LOR (loricrin) Question 10. The result of gene mutations within the epidermal differentiation complex is abnormal — A. antigen presentation. B. cell trafficking. C. receptor signaling. D. skin barrier protection.
An update on the genetics of atopic dermatitis: Scratching the surface in 2009 Instructions for category 1 Continuing Medical Education credit The American Academy of Allergy, Asthma & Immunology is accredited as a provider of Continuing Medical Education (CME) by the Accreditation Council for Continuing Medical Education. Test ID no.: mai00190 Contact hours: 1.0 Expiration date: December 31, 2011 Category 1 credit can be earned by reading the text material and taking this CME examination online. For complete instructions, visit the Journal’s Web site at www.jacionline.org.
The Editors thank the Medical College of Georgia Allergy-Immunology training program for developing this CME examination. The individuals who contributed to its preparation were Deidre Crocker, MD, William Dolen, MD, Karthik Krishnan, MD, Dennis Ownby, MD, Jason Perry, MD, Lawrence Potter, MD, Lakshmi Reddy, MD, Philip Smith, MD, and Turkessa Walker, MD.
Learning objectives: ‘‘An update on the genetics of atopic dermatitis: Scratching the surface in 2009’’ 1. To become familiar with traditional and newer methods used to identify candidate genes for atopic dermatitis (AD). 2. To recognize the role of the innate and adaptive immune response in the development of AD. 3. To understand the contribution of skin barrier gene dysfunctions in the susceptibility of AD.
CME items Question 1. An investigator wishes to identify molecular signatures for complex diseases not identified by a gene-by-gene approach. Which of the following methods would be most appropriate? A. candidate gene association B. family-based linkage C. genome-wide linkage D. high-throughput gene profiling Question 2. What technique would a researcher use to conduct expression profiling of all known genes in the human genome? A. comparative genomic hybridization B. genome-wide microarray C. positional cloning D. single nucleotide polymorphism (SNP) for SNP approach Question 3. Increased susceptibility to infections and cutaneous colonization with bacteria suggest dysfunction of which of the following immune system genes? A. CD13 B. GATA4 C. NOD1 (nucleotide-binding oligomerization domain 1) D. TLR9 (Toll-like receptor 9)
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January 2010
Question 4. What is a disadvantage of genome-wide linkage analyses? A. Genome-wide linkage analyses are hypothesis-dependent. B. Genome-wide linkage analyses are not cost-effective because they require large numbers (thousands) of markers. C. Genome-wide linkage analyses cannot detect genes with minimal or modest effect. D. Positional cloning has to be performed before genomewide linkage analysis. Question 5. Why should candidate gene studies for AD be interpreted with great caution? A. It is more difficult to amass reasonably powered groups of cases and control subjects than in family-based studies. B. Negative association studies are rarely published. C. There is less power to detect true associations once the gene has been identified. D. They are susceptible to confounding because of survival bias. Question 6. A 9-year-old boy has AD associated with a filaggrin (FLG) null mutation. Because of that mutation, this patient is most at risk to develop which of the following skin infections? A. cutaneous candidiasis B. disseminated cutaneous herpes simplex virus C. localized molluscum contagiosum lesion D. Staphylococcus aureus skin abscess J ALLERGY CLIN IMMUNOL
J ALLERGY CLIN IMMUNOL VOLUME 125, NUMBER 1
Question 7. Which of the following persons is at highest risk of AD? A. a child whose father has AD B. a child whose grandfather has allergic rhinitis and whose father has asthma C. a child whose mother has asthma D. a child whose siblings have AD and allergic rhinitis Question 8. Mapping of the human genome has allowed examination of larger and more diverse populations of patients with AD. The International Haplotype Map has identified common genetic polymorphisms within the human genome. Haplotype blocks were found to have significant diversity at the SNP level as a result of random mutations in different populations. What is the major implication of this finding? A. A single-locus approach will be successful in identifying candidate genes. B. Replicating a single candidate locus across study populations will be less likely. C. Researchers will no longer need to consider interactions among multiple polymorphisms that might contribute to final genetic expression. D. Studies will no longer need to consider phenotype in patient populations.
BARNES 31
Question 9. In genetic association studies of patients with AD, which gene is most consistently associated with AD? A. FLG B. FLG2 (ifapsoriasin) C. IVL (involucrin) D. LOR (loricrin) Question 10. The result of gene mutations within the epidermal differentiation complex is abnormal — A. antigen presentation. B. cell trafficking. C. receptor signaling. D. skin barrier protection.