title: A missense mutation (c.1963A<G) of the complementary component 2 (C2) gene is associated with serum Ca⁺⁺ concentrations in pigs.
abstract: Serum Ca(++) levels play important roles in the humoral immunity. The aim of this study was to detect quantitative trait loci and the associated positional candidate genes affecting baseline serum Ca(++) concentrations. A genome-wide association study was conducted in an F(2) intercross population between Landrace and Korean native pigs using the porcine single nucleotide polymorphism (SNP) 60 K beadchip and the PLINK program based on linear regression. Data used in the study included 410 F(2) pigs. All experimental animals were genotyped with 36,613 SNP markers located throughout the pig autosomes. We identified a strong association between a SNP marker on chromosome 7 and serum Ca(++) levels (DIAS0002191, genomic control-corrected P = 7.7 × 10(-5)). The position of DIAS0002191 was closely located to SLA class III region containing the C2 gene encoding the complementary component 2 protein, a protein which is important in the humoral immune responses. De novo sequencing of the porcine C2 gene revealed a missense mutation [c.1963A<G (N655D)] and this missense mutation was also strongly associated with serum Ca(++) concentrations (genomic control-corrected P = 5.9 × 10(-5)). Further studies are necessary to investigate the effect of this missense mutation at a functional-molecular level. In conclusion, the missense mutation of the C2 gene identified in this study may help in elucidating the genetic factors underlying humoral immune reactions.
authors: Division of Applied Life Science, Graduate School of Gyeongsang National University, Jinju 660-701, Korea.
authors: Jae-Bong
authors: JB
authors: Lee
authors: Chae-Kyoung
authors: CK
authors: Yoo
authors: Eun-Ji
authors: EJ
authors: Jung
authors: Jung-Hye
authors: JH
authors: Hwang
authors: Bo-Young
authors: BY
authors: Seo
authors: Byeong-Woo
authors: BW
authors: Kim
authors: Hyun-Tae
authors: HT
authors: Lim
authors: Jung-Gyu
authors: JG
authors: Lee
authors: In-Cheol
authors: IC
authors: Cho
authors: Hee-Bok
authors: HB
authors: Park
mesh_terms: D000818:Animals; D001482:Base Composition; D001483:Base Sequence; D002118:Calcium / Q000097:blood*; D003175:Complement C2 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D058977:Molecular Sequence Annotation; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D034421:Sus scrofa / Q000235:genetics*
chemical_list: D003175:Complement C2; D002118:Calcium