Genetic and environmental factors influencing the human factor H plasma levels

Jorge Esparza-Gordillo, José Manuel Soria, Alfonso Buil, Laura Almasy, John Blangero, Jordi Fontcuberta, Santiago Rodríguez De Córdoba

Research output: Contribution to journalArticle

112 Citations (Scopus)

Abstract

Factor H is a plasma protein that plays a critical role in the regulation of complement activation in fluid phase and on cellular surfaces. Over the years numerous reports have illustrated the association of factor H deficiencies with chronic renal and infectious diseases. Plasma levels of factor H show a five-fold range of variation in humans (116-562 μg/ml), which may also be relevant to disease susceptibility. To quantify the effects of the genetic and environmental factors responsible for the variation in the factor H plasma levels, we have applied variance-component methods to a family-based sample. Factor H plasma levels show an age-dependent increase (P<0.0001) and are decreased in smokers (P<0.0001). Interestingly, the heritability of the factor H trait is very high (h2=0.62±0.07; P<0.0001), indicating that 62% of the factor H phenotypic variance is due to the additive effects of genes. On this premise, we conducted a genome-wide linkage screen in order to identify genes regulating the factor H trait. Three genomic regions (1q32, 2p21-24 and 15q22-24) provided suggestive evidence of linkage (LOD scores 2.03, 2.15 and 2.00, respectively) with the plasma levels of factor H.

Original languageEnglish (US)
Pages (from-to)77-82
Number of pages6
JournalImmunogenetics
Volume56
Issue number2
DOIs
StatePublished - May 2004
Externally publishedYes

Fingerprint

Complement Factor H
human complement factor H
Complement Activation
Disease Susceptibility
Chronic Renal Insufficiency
Genes
Communicable Diseases
Blood Proteins
Genome

Keywords

  • Complement
  • Factor H
  • Heritability
  • Linkage
  • Quantitative phenotype

ASJC Scopus subject areas

  • Immunology
  • Genetics

Cite this

Esparza-Gordillo, J., Soria, J. M., Buil, A., Almasy, L., Blangero, J., Fontcuberta, J., & Rodríguez De Córdoba, S. (2004). Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics, 56(2), 77-82. https://doi.org/10.1007/s00251-004-0660-7

Genetic and environmental factors influencing the human factor H plasma levels. / Esparza-Gordillo, Jorge; Soria, José Manuel; Buil, Alfonso; Almasy, Laura; Blangero, John; Fontcuberta, Jordi; Rodríguez De Córdoba, Santiago.

In: Immunogenetics, Vol. 56, No. 2, 05.2004, p. 77-82.

Research output: Contribution to journalArticle

Esparza-Gordillo, J, Soria, JM, Buil, A, Almasy, L, Blangero, J, Fontcuberta, J & Rodríguez De Córdoba, S 2004, 'Genetic and environmental factors influencing the human factor H plasma levels', Immunogenetics, vol. 56, no. 2, pp. 77-82. https://doi.org/10.1007/s00251-004-0660-7
Esparza-Gordillo J, Soria JM, Buil A, Almasy L, Blangero J, Fontcuberta J et al. Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics. 2004 May;56(2):77-82. https://doi.org/10.1007/s00251-004-0660-7
Esparza-Gordillo, Jorge ; Soria, José Manuel ; Buil, Alfonso ; Almasy, Laura ; Blangero, John ; Fontcuberta, Jordi ; Rodríguez De Córdoba, Santiago. / Genetic and environmental factors influencing the human factor H plasma levels. In: Immunogenetics. 2004 ; Vol. 56, No. 2. pp. 77-82.
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