Genetic susceptibility of common polymorphisms in NIN and SIGLEC5 to chronic periodontitis
SCIENTIFIC REPORTS
Authors: Tong, Hua; Wei, Zhuliang; Yin, Jing; Zhang, Bo; Zhang, Tianxiao; Deng, Chunni; Huang, Yali; Zhang, Nan
Abstract
Chronic periodontitis (CP) is a common oral disease characterized by the slow progression of alveolar attachment loss and bone destruction. Genetic components have been reported to play an important role in the onset and development of CP. In the present study, we aimed to replicate the association signals of NIN and SIGLEC5 identified in previous genome-wide association studies (GWASs) of samples from Chinese Han individuals. Association signals between clinical severity indicators of CP and relevant single nucleotide polymorphisms (SNPs) were also examined. A total of 3,160 study subjects, including 1,076 CP patients and 2,084 healthy controls, were recruited. A total of 32 SNPs, including 22 from NIN and 10 from SIGLEC5, were selected for genotyping. SNPs rs12883458 (OR = 1.45, P = 1.22 x 10(-5), NIN) and rs4284742 (OR = 0.75, P = 1.69 x 10(-5), SIGLEC5) were significantly associated with CP disease status. rs4284742 was significantly associated with all 3 clinical severity indicators, including bleeding on probing (BOP), probing depth (PD) and clinical attachment loss (CAL). According to evidence from bioinformatics analyses, both significant SNPs, rs12883458 and rs4284742, are likely surrogates of underlying variants with true effects. In summary, our findings provide direct evidence for the association of NIN and SIGLEC5 with CP susceptibility.
Effects of a novel missense polymorphism within the SIGLEC5 gene on fertility traits in Holstein-Friesian cattle
REPRODUCTION IN DOMESTIC ANIMALS
Authors: Puckowska, Paulina; Borowska, Alicja; Szwaczkowski, Tomasz; Olenski, Kamil; Kaminski, Stanislaw
Abstract
The aim of the study was to find functional polymorphism within two exons of the SIGLEC5 (sialic acid-binding Ig-like lectin-5) gene and to examine its effects on the production and fertility traits of cows and bulls. Two hundred seventytwo Holstein-Friesian cows and 574 bulls were included in the study. Novel missense polymorphism (A > G) within exon 3 causing substitution of amino acid arginine by glutamate in position 260 of SIGLEC5 protein (R260Q) was identified by sequencing and digestion by restriction enzyme Msp I. Basic production and fertility traits of cows and estimated breeding values (EBV) of bulls were analysed. The study demonstrated a significant association of SIGLEC5 R260Q polymorphism with days open and calving interval in cows as well as with breeding value for calving interval in bulls. An opposite effect of SIGLEC5 alleles for production and fertility traits was observed: the allele G increased the breeding value for the protein yield, while the allele A increased the breeding value for the calving interval. The current study suggests the involvement of SIGLEC5 R260Q polymorphism in biological processes related to fertility traits. This finding can be applied as a biomarker for a genetic improvement programme in Holstein-Friesian cattle.