Gc and C3 Polymorphisms in Central Sardinia

The complement system is an important mediator of natural and acquired immunity. The complement system genes coding complement proteins have polymorphisms. Hereditary deficiencies of this system predispose to autoimmune conditions such as age-dependent macular degeneration or impairment of immunity against microorganisms. When different populations are compared, the frequency of complement polymorphism shows a very marked geographical distribution. The frequency of the functional polymorphism rs2230199 (Arg80Gly; C > G) in the C3 gene was determined in population from south of Iran (n = 200), using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). One hundred thirty-eight persons (69 %) were homozygous for C allele (CC or SS); fifty-six person (28 %) heterozygote GC (FS) and six people were homozygous for G allele (GG or FF) (3 %). The allele frequency was 82 % for C3S and 18 % for C3F. A distribution of C3C allele frequency in our population is different from the reports of Asians (100 %); Indians (90-98 %); African-American (93 %); Africans (99 %) and south Brazilian (97 %). However, this finding is similar with the findings Caucasian (80-82 %) ( http://www.ncbi.nlm.nih.gov/SNP ); Americans (80 %); Pushtoon, Hazaras, Osbek and Tajik ethnic groups in Afghanistan (88-90 %) and Tunisian population (84 %). Our study confirmed significant inter-ethnic differences in C3 (rs2230199) frequencies between south Iranians and other ethnic groups. The analysis of genetic variation in complement genes is a tool to provide new insights into the evolution of the human immune system.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Gc and C3 Polymorphisms in Central Sardinia

Abstract: The distribution of phenotypes and gene frequencies of the group-specific component (Gc) and C3 complement were studied in Central Sardinian sample. The gene frequencies were: Gc¹ = 0.733; C3^F = 0.237.

Cited by 2 publications

References 7 publications

Red cell and serum protein polymorphisms in Sardinia

Red cell and serum protein polymorphisms in Sardinia

The investigation of allele and genotype frequencies of human C3 (rs2230199) in south Iranian population

Contact Info

Product

Resources

About

Gc and C3 Polymorphisms in Central Sardinia

Abstract: The distribution of phenotypes and gene frequencies of the group-specific component (Gc) and C3 complement were studied in Central Sardinian sample. The gene frequencies were: Gc1 = 0.733; C3F = 0.237.

Cited by 2 publications

References 7 publications

Red cell and serum protein polymorphisms in Sardinia

Red cell and serum protein polymorphisms in Sardinia

The investigation of allele and genotype frequencies of human C3 (rs2230199) in south Iranian population

Contact Info

Product

Resources

About

Abstract: The distribution of phenotypes and gene frequencies of the group-specific component (Gc) and C3 complement were studied in Central Sardinian sample. The gene frequencies were: Gc¹ = 0.733; C3^F = 0.237.