This case-control study was designed to evaluate the association of three COL2A1 single nucleotide polymorphism (SNPs) (rs1793953, rs2276454, and rs1793937) and Aggrecan variable number of tandem repeat (VNTR) polymorphisms with the risk and clinicopathological features of intervertebral disc degeneration (IVDD) in a Chinese Han population.
Personal history of spine sprain or crush injury, history of IVDD in a first-degree relative, and COL2A1 rs2276454 and Aggrecan VNTR presence may be independent risk factors of IVDD (all p < 0.05, odds ratio [OR] >1), whereas tea drinking habit, part-time sports participation, and COL2A1 rs1793953 presence may be protective factors of IVDD (all p < 0.05, OR <1).
Personal history of spine sprain or crush injury, history of IVDD in a first-degree relative, and COL2A1 rs2276454 and Aggrecan VNTR presence may be independent risk factors of IVDD (all p < 0.05, odds ratio [OR] >1), whereas tea drinking habit, part-time sports participation, and COL2A1 rs1793953 presence may be protective factors of IVDD (all p < 0.05, OR <1).
Finally, using a specific cohort of patients with PVD-associated RRD and a control population, we demonstrate a significant difference in the frequency of the COL2A1 intronic variant rs1635532 between the two groups.
Finally, using a specific cohort of patients with PVD-associated RRD and a control population, we demonstrate a significant difference in the frequency of the COL2A1 intronic variant rs1635532 between the two groups.
In the first family, we performed whole-exome sequencing on three family members, two of whom have a PPRD-like phenotype, and identified a heterozygous variant (c.619G>A, p.Gly207Arg) in both affected individuals.
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH.
In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH.
In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH.
In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH.
In the analysis of individual SNPs, the SNP rs1793953 in the COL2A1 gene showed a possible association with MP with regard to allelic frequency and genotypic distribution (p = 0.031; p = 0.025, respectively) in the 211 cases and 224 controls.
We do not find evidence to support an association of SNP rs1635529 in COL2A1 with high myopia in the Chinese population studied, nor of the other two SNPs (rs60542319 and rs954326).
Association studies have revealed that the rs1635529 polymorphism in the COL2A1 (collagen, type Ⅱ, α 1) gene may be a potential candidate for myopia development and may be associated with myopia in Caucasians.
We do not find evidence to support an association of SNP rs1635529 in COL2A1 with high myopia in the Chinese population studied, nor of the other two SNPs (rs60542319 and rs954326).
There was no statistically significant difference in genotype, allele and haplotype frequencies for the other three SNPs (rs1635529, rs60542319 and rs954326) between the high myopia</span> group and the control group.
The G4006A AA homozygous genotype significantly increased in the OA patients, when compared with that in the control women (P<0.05, χ2), with 24.2% (29/120) in the OA group and 10.0% (12/120) in the control group; The A allele accounted for 49.2% (118/240) in the OA group and 35.8% (86/240) in the control group.
To study the role of two COL2A1 single nucleotide polymorphisms (rs3737548 and rs2276455) and their haplotypes in individual susceptibility to osteoarthritis (OA) of the hand in Finnish women.
To study the role of two COL2A1 single nucleotide polymorphisms (rs3737548 and rs2276455) and their haplotypes in individual susceptibility to osteoarthritis (OA) of the hand in Finnish women.