Association between single nucleotide polymorphisms of sterol regulatory element binding protein-2 gene and risk of knee osteoarthritis in a Chinese Han population

Abstract

Objective: To investigate associations between single nucleotide polymorphisms (SNPs) rs2228314 and rs2267443 in the sterol regulatory element binding protein-2 gene (SREBP-2) and knee osteoarthritis (OA) susceptibility in a Chinese Han population. Methods: SREBP-2 rs2228314 and rs2267443 polymorphisms were genotyped in patients with knee OA and age-and sex-matched OA-free controls from a Chinese Han population. Results: A total of 402 patients with knee OA and 410 controls were enrolled in the study. GC and CC genotypes of rs2228314, and variant C, were associated with a significantly increased risk of knee OA. On stratification analysis, the association between the risk of OA and rs2228314 GC heterozygotes compared with GG homozygotes was stronger in females and those aged >65 years. In contrast, the GA and AA genotypes of rs2267443 were not significantly associated with the risk of knee OA, even after further stratification analysis according to age or sex. Conclusions: SREBP-2 rs2228314 G to C change and variant C genotype may contribute to knee OA risk in a Chinese Han population.

Association between transforming growth factor-beta 1 gene single nucleotide polymorphisms and knee osteoarthritis susceptibility in a Chinese Han population

“…Anteroposterior extended-view weight-bearing radiographs of the involved knees were obtained. Two examiners who were blinded to the grouped information assessed the radiographic data to provide a Kellgren–Lawrence (KL) score ranging from 0 to 4, 21 where 0 = none; 1 = possible osteophytes only; 2 = definite osteophytes and possible joint space narrowing; 3 = moderate osteophytes and/or definite joint space narrowing; and 4 = large osteophytes, severe joint space narrowing, and/or bony sclerosis. Patients with a KL score of ≥2 were defined as radiographic OA and included in the study.…”

“…PCR amplification was carried with an initial denaturation at 95 C for 2 min, followed by 40 cycles of denaturation at 95 C for 15 s and annealing at 65 C for 30 s using the 7900HT Fast Real-Time PCR System (Applied Biosystems). 23 ABI PRISM 7900 Sequence Detection System software version 2.3 (Applied Biosystems) was used to perform data analyses. For confirmation, approximately 5% of the samples were selected randomly for repeated genotyping.…”

Relationship of SREBP-2 rs2228314 G>C Polymorphism with Nonalcoholic Fatty Liver Disease in a Han Chinese Population

“…However, the genetic polymorphisms of SREBP-2 may conduce to the transformation of its functions, thereby leading to the disorder of intracellular cholesterol homeostasis. The SNP rs2228314 in the SREBP-2 gene located in exon 10 may result in substitution of a glycine by an alanine at amino acid 595 (G595A) of the SREBP-2 protein (Qiu et al, 2014). In this regard, this polymorphism may be strongly associated with serum level of TC levels in hypercholesterolaemic subjects, and with elevated plasma lipid levels as well as BMI level, and the rs2228314 polymorphic of SREBP-2 may eventually result in the risk of NAFLD.…”

Genetic variation of SMAD3 is associated with hip osteoarthritis in a Chinese Han population

“… 18 PCR was performed using the 9700 GeneAmp PCR system (Applied Biosystems, Foster City, CA) according to previously described methods. 19 , 20 ABI PRISM 9700 Sequence Detection System software version 2.0 (Applied Biosystems) was used to analyze the data. Approximately 5% of the samples were subjected to a second genotyping for confirmation of results.…”