Az emberi genom egy különleges régiója, a fo hisztokompatibilitási komplex (MHC) centrális része a 6-os kromoszóma rövid karján. Orvosi vonatkozások

Translated title of the contribution: A special region of the human genome, central part of the major histocompatibility complex (MHC) on the short arm of chromosome 6. Clinical implications

Research output: Contribution to journalArticle

Abstract

In the first part of this review article, author summarizes our current knowledge on the structure and function of three classes (class I, class II and class III) of the major histocompatibility complex. Conception of the extended, ancestral haplotype is introduced and special features (association with disorders of the immune function, linkage to several autoimmune diseases) of one of these ancestral haplotype designated 8.1 (AH8.1) is highlighted. Then author summarizes recent findings of his working group. In the framework of extended domestic and international collaboration they demonstrated the increased risk of the AH8.1 carriers to become regular smokers as well as to develop colorectal cancer, while patients with cystic fibrosis who carried this haplotype were found to exhibit a markedly delayed colonization. Using their newly developed method authors determined copy number of the two genes (C4A and C4B) encoding fourth component of complement and found that carriers of low (0 or 1) C4B gene copies has a strongly increased risk for cardiovascular diseases morbidity and mortality.

Original languageHungarian
Pages (from-to)19-30
Number of pages12
JournalOrvoskepzes
Volume82
Issue number1
Publication statusPublished - 2007

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Chromosomes, Human, Pair 6
Human Genome
Major Histocompatibility Complex
Haplotypes
Gene Dosage
Immune System Diseases
Cystic Fibrosis
Autoimmune Diseases
Colorectal Neoplasms
Cardiovascular Diseases
Morbidity
Mortality
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "Az emberi genom egy k{\"u}l{\"o}nleges r{\'e}gi{\'o}ja, a fo hisztokompatibilit{\'a}si komplex (MHC) centr{\'a}lis r{\'e}sze a 6-os kromosz{\'o}ma r{\"o}vid karj{\'a}n. Orvosi vonatkoz{\'a}sok",
abstract = "In the first part of this review article, author summarizes our current knowledge on the structure and function of three classes (class I, class II and class III) of the major histocompatibility complex. Conception of the extended, ancestral haplotype is introduced and special features (association with disorders of the immune function, linkage to several autoimmune diseases) of one of these ancestral haplotype designated 8.1 (AH8.1) is highlighted. Then author summarizes recent findings of his working group. In the framework of extended domestic and international collaboration they demonstrated the increased risk of the AH8.1 carriers to become regular smokers as well as to develop colorectal cancer, while patients with cystic fibrosis who carried this haplotype were found to exhibit a markedly delayed colonization. Using their newly developed method authors determined copy number of the two genes (C4A and C4B) encoding fourth component of complement and found that carriers of low (0 or 1) C4B gene copies has a strongly increased risk for cardiovascular diseases morbidity and mortality.",
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author = "G. F{\"u}st",
year = "2007",
language = "Hungarian",
volume = "82",
pages = "19--30",
journal = "Orvoskepzes",
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publisher = "Semmelweis Kiado",
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AU - Füst, G.

PY - 2007

Y1 - 2007

N2 - In the first part of this review article, author summarizes our current knowledge on the structure and function of three classes (class I, class II and class III) of the major histocompatibility complex. Conception of the extended, ancestral haplotype is introduced and special features (association with disorders of the immune function, linkage to several autoimmune diseases) of one of these ancestral haplotype designated 8.1 (AH8.1) is highlighted. Then author summarizes recent findings of his working group. In the framework of extended domestic and international collaboration they demonstrated the increased risk of the AH8.1 carriers to become regular smokers as well as to develop colorectal cancer, while patients with cystic fibrosis who carried this haplotype were found to exhibit a markedly delayed colonization. Using their newly developed method authors determined copy number of the two genes (C4A and C4B) encoding fourth component of complement and found that carriers of low (0 or 1) C4B gene copies has a strongly increased risk for cardiovascular diseases morbidity and mortality.

AB - In the first part of this review article, author summarizes our current knowledge on the structure and function of three classes (class I, class II and class III) of the major histocompatibility complex. Conception of the extended, ancestral haplotype is introduced and special features (association with disorders of the immune function, linkage to several autoimmune diseases) of one of these ancestral haplotype designated 8.1 (AH8.1) is highlighted. Then author summarizes recent findings of his working group. In the framework of extended domestic and international collaboration they demonstrated the increased risk of the AH8.1 carriers to become regular smokers as well as to develop colorectal cancer, while patients with cystic fibrosis who carried this haplotype were found to exhibit a markedly delayed colonization. Using their newly developed method authors determined copy number of the two genes (C4A and C4B) encoding fourth component of complement and found that carriers of low (0 or 1) C4B gene copies has a strongly increased risk for cardiovascular diseases morbidity and mortality.

KW - 8.1 ancestral haplotype

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KW - C4B

KW - Extended haplotype

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