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Association of C3 and C4A complement types with familial amyloidotic polyneuropathy. 1990

P O Nylander, and L Beckman, and G Holmgren, and L Steen
Department of Medical Genetics, University of Umeå, Sweden.

A mutant variant of the serum protein transthyretin (TTR-met30) appears to be a necessary but not sufficient condition for the development of familial amyloidotic polyneuropathy (FAP). We have studied a number of serum protein markers (alpha 1-antitrypsin, properdin factor B, C3, C4A, C4B, haptoglobin, transferrin and group-specific component) in FAP patients and healthy controls in an attempt to identify additional pathogenic factors which may influence the risk for developing FAP in male and female patients as well as the age of onset of the disease. Statistically significant associations were found in the complement systems C3 and C4A. The C3F variant was significantly increased in all FAP patients with a relative risk (RR) of 2.0, more pronounced in female patients (RR = 2.6) and patients with an early onset of the disease (RR = 4.5). In the FAP patients only the variants A3 and A4 were found in the C4A system. C4A3 was found in all patients, which was significantly higher than in the controls. The remaining serum protein systems showed no statistically significant associations with FAP. The results suggest that genetic variants of complement factors C3 and C4A may interact with the mutant TTR-met30 by modifying the expression and onset of FAP.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009477 Hereditary Sensory and Autonomic Neuropathies A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4) HSAN,HSAN Type I,HSAN Type II,HSAN Type IV,HSAN Type V,HSN Type I,HSN Type II,Insensitivity to Pain with Anhidrosis, Congenital,Neuropathies, Hereditary Sensory and Autonomic,Pain Insensitivity with Anhidrosis, Congenital,Sensory Neuropathy, Hereditary,Sensory and Autonomic Neuropathies, Hereditary,Acroosteolysis, Giaccai Type,Acroosteolysis, Neurogenic,Congenital Insensitivity to Pain with Anhidrosis,Familial Dysautonomia, Type 2,Familial Dysautonomia, Type II,Giaccai Type Acroosteolysis,HSAN (Hereditary Sensory Autonomic Neuropathy),HSAN 1,HSAN 4,HSAN 5,HSAN I,HSAN IV,HSAN V,HSAN2,HSAN5,HSANII,Hereditary Sensory And Autonomic Neuropathy IV,Hereditary Sensory Autonomic Neuropathy, Type 1,Hereditary Sensory Autonomic Neuropathy, Type 2,Hereditary Sensory Autonomic Neuropathy, Type 4,Hereditary Sensory Autonomic Neuropathy, Type 5,Hereditary Sensory Neuropathy Type 1,Hereditary Sensory Neuropathy Type I,Hereditary Sensory Neuropathy Type Ia,Hereditary Sensory Radicular Neuropathy,Hereditary Sensory Radicular Neuropathy, Recessive Form,Hereditary Sensory and Autonomic Neuropathy 4,Hereditary Sensory and Autonomic Neuropathy Type 1,Hereditary Sensory and Autonomic Neuropathy Type 2,Hereditary Sensory and Autonomic Neuropathy Type I,Hereditary Sensory and Autonomic Neuropathy Type II,Hereditary Sensory and Autonomic Neuropathy Type IV,Hereditary Sensory and Autonomic Neuropathy Type V,Hereditary Sensory and Autonomic Neuropathy, Type 4,Hereditary Sensory and Autonomic Neuropathy, Type 5,Insensitivity to Pain, Congenital, with Anhidrosis,Neurogenic Acroosteolysis,Neuropathy Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy Hereditary Sensory and Autonomic Type 1,Neuropathy, Congenital Sensory,Neuropathy, Congenital Sensory, with Anhidrosis,Neuropathy, Hereditary Sensory And Autonomic, Type I,Neuropathy, Hereditary Sensory And Autonomic, Type V,Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive,Neuropathy, Hereditary Sensory, Type I,Neuropathy, Progressive Sensory, Of Children,Acroosteolyses, Neurogenic,Congenital Sensory Neuropathies,Congenital Sensory Neuropathy,HSANs (Hereditary Sensory Autonomic Neuropathy),HSN Type IIs,Hereditary Sensory Neuropathies,Hereditary Sensory Neuropathy,Neurogenic Acroosteolyses,Neuropathies, Congenital Sensory,Neuropathies, Hereditary Sensory,Neuropathy, Hereditary Sensory,Sensory Neuropathies, Congenital,Sensory Neuropathies, Hereditary,Sensory Neuropathy, Congenital,Type I, HSAN,Type I, HSN,Type IV, HSAN
D003176 Complement C3 A glycoprotein that is central in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C3 can be cleaved into COMPLEMENT C3A and COMPLEMENT C3B, spontaneously at low level or by C3 CONVERTASE at high level. The smaller fragment C3a is an ANAPHYLATOXIN and mediator of local inflammatory process. The larger fragment C3b binds with C3 convertase to form C5 convertase. C3 Complement,C3 Precursor,Complement 3,Complement C3 Precursor,Complement Component 3,Precursor-Complement 3,Pro-C3,Pro-Complement 3,C3 Precursor, Complement,C3, Complement,Complement, C3,Component 3, Complement,Precursor Complement 3,Precursor, C3,Precursor, Complement C3,Pro C3,Pro Complement 3
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000367 Age Factors Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time. Age Reporting,Age Factor,Factor, Age,Factors, Age
D000686 Amyloidosis A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits. Amyloidoses
D012737 Sex Factors Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances. Factor, Sex,Factors, Sex,Sex Factor

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