Juan Li1, Shan-Yu Chen2, Hong-Hui Liu1, Xiao-Dong Yin1, Long-Ting Cao1, Jian-Hua Xu2, Xiao-Mei Li3, Dong-Qing Ye1, Jing Wang4. 1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China. 2. Department of Rheumatology and Immunology, First Affiliated Hospital of Anhui Medical University, Hefei, China. 3. Department of Rheumatology and Immunology, Anhui Provincial Hospital, Hefei, China. 4. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China. Electronic address: jwang2006@126.com.
Abstract
BACKGROUND: This study aims to evaluate whether the Vitamin D receptor (VDR) gene polymorphisms were associated with systemic sclerosis (SSc) in a Chinese Han population. METHODS: Using a hospital-based case-control study including 100 SSc patients and 100 healthy controls. Single nucleotide polymorphisms (SNPs) in the VDR region were genotyped by the improved multiplex ligase detection reaction (i MLDR) method. Haplotypes were also constructed after linkage disequilibrium (LD) analysis. RESULTS: Eight SNPs (rs731236 (TaqI), rs2228570 (FokI), rs7975232 (ApaI), rs1544410 (BsmI), rs11574010 (Cdx2), rs739837 (BglI), rs757343 (Tru9I) and rs11168267) were included. There were significant differences between SSc patients and healthy individuals in ApaI and BglI genotype (both adjusted p = 0.008). Through the genotyping, significantly association of SSc were found for: dominant model of ApaI and BglI (both OR (95% CI) = 1.80 (1.03,3.16), p = 0.040). Furthermore, the elevation of erythrocyte sedimentation rate (ESR) had a higher percentage of BglI GT genotype frequency (p = 0.034) and dominant model of ApaI (p = 0.016) in SSc. There was high linkage disequilibrium was detected in BglI and ApaI polymorphisms (r2 = 1.0, D' = 1.0), Tru9I and rs11168267 (r2 = 0.926, D' = 0.969), respectively. No significant difference were found in these four haplotypes (all p >0.05). The correlation between VD levels and VDR gene polymorphisms was not statistically significant. CONCLUSIONS: Our preliminary study indicates the ApaI and BglI genotype may possibly have a role in the pathogenesis of SSc patients. Dominant model of ApaI and BglI GT genotype frequency may be associated with the increased risk of ESR.
BACKGROUND: This study aims to evaluate whether the Vitamin D receptor (VDR) gene polymorphisms were associated with systemic sclerosis (SSc) in a Chinese Han population. METHODS: Using a hospital-based case-control study including 100 SScpatients and 100 healthy controls. Single nucleotide polymorphisms (SNPs) in the VDR region were genotyped by the improved multiplex ligase detection reaction (i MLDR) method. Haplotypes were also constructed after linkage disequilibrium (LD) analysis. RESULTS: Eight SNPs (rs731236 (TaqI), rs2228570 (FokI), rs7975232 (ApaI), rs1544410 (BsmI), rs11574010 (Cdx2), rs739837 (BglI), rs757343 (Tru9I) and rs11168267) were included. There were significant differences between SScpatients and healthy individuals in ApaI and BglI genotype (both adjusted p = 0.008). Through the genotyping, significantly association of SSc were found for: dominant model of ApaI and BglI (both OR (95% CI) = 1.80 (1.03,3.16), p = 0.040). Furthermore, the elevation of erythrocyte sedimentation rate (ESR) had a higher percentage of BglI GT genotype frequency (p = 0.034) and dominant model of ApaI (p = 0.016) in SSc. There was high linkage disequilibrium was detected in BglI and ApaI polymorphisms (r2 = 1.0, D' = 1.0), Tru9I and rs11168267 (r2 = 0.926, D' = 0.969), respectively. No significant difference were found in these four haplotypes (all p >0.05). The correlation between VD levels and VDR gene polymorphisms was not statistically significant. CONCLUSIONS: Our preliminary study indicates the ApaI and BglI genotype may possibly have a role in the pathogenesis of SScpatients. Dominant model of ApaI and BglI GT genotype frequency may be associated with the increased risk of ESR.
Authors: Isabel Pimenta; Hugo Mateus; Santiago Rodrigues-Manica; Rita Pinheiro-Torres; Agna Neto; Lúcia Domingues; Carolina Lage Crespo; Atlas Sardoo; Pedro Machado; Jaime C Branco; Susana N Silva; Fernando M Pimentel-Santos Journal: Front Genet Date: 2021-08-11 Impact factor: 4.599