Background Osteopontin (OPN) is one kind of cytokine which can play a number of roles in promoting activation of T lymphocyte, regulating balance between Thl and Th2, participating in cell-induced immunologic respon...Background Osteopontin (OPN) is one kind of cytokine which can play a number of roles in promoting activation of T lymphocyte, regulating balance between Thl and Th2, participating in cell-induced immunologic response and stimulating B lymphocyte to express multi-clone antibodies. Some researches have showed that OPN may be involved in the pathogenesis of systemic lupus erythematosus (SLE). The aim of this study was to investigate possible association of a single nucleotide polymorphism (SNP) at position 9250 in exon 7 of the OPN gene (OPN gene 9250) with SLE in Chinese patients. Methods Totally 158 patients (18 males and 140 females) fulfilled the revised criteria for SLE by the American College of Rheumatology in 1982 and 180 healthy volunteer controls (34 males and 146 females), all from the south of China, consented to participate in the study. OPN gene 9250 polymorphism was detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results The frequency of "IT genotype of the OPN gene 9250 was significantly lower (52.5% vs 70%, P〈0.05) and the frequency of TC genotype of the OPN gene 9250 was significantly higher (43.7% vs 29.4%, P〈0.05) in SLE patients than in controls. There were significant differences in OPN gene 9250 allele and phenotype frequencies between the SLE patients and controls (P〈0.05). When the SLE patients and controls were separated into men and women, significant differences of frequencies were noted in TT genotype, TC genotype and allele of the OPN gene 9250 in women (P〈0.05) but not in men (P〉0.05). Conclusions OPN gene 9250 polymorphism appears to be associated with susceptibility to SLE in Chinese Han ethnic population.展开更多
目的研究鼻咽癌相关基因osteopontin SNP rs2728127和rs34527305对鼻咽癌易感性的影响。方法采用多重单碱基延伸PCR技术,对264例广西百色地区鼻咽癌患者和264例健康对照者的osteopontin基因SNP rs2728127和rs34527305进行基因分型,比较...目的研究鼻咽癌相关基因osteopontin SNP rs2728127和rs34527305对鼻咽癌易感性的影响。方法采用多重单碱基延伸PCR技术,对264例广西百色地区鼻咽癌患者和264例健康对照者的osteopontin基因SNP rs2728127和rs34527305进行基因分型,比较广西百色地区人群rs2728127和rs34527305基因型和等位基因型频率与其他地区人群的差异,分析rs2728127和rs34527305对鼻咽癌易感性的影响。结果广西百色地区人群osteopontin基因SNP rs2728127和rs34527305基因型和等位基因型频率与云南西双版纳地区人群差异无统计学意义(P>0.05),但是与北京、越南胡志明、日本东京[除rs34527305等位基因型频率与北京相比较差异无统计学意义(P>0.05)外]、秘鲁利马和芬兰地区人群相比差异有统计学意义(P<0.05)。对照组和病例组rs2728127和rs34527305基因型和等位基因型频率分布差异无统计学意义(P>0.05)。但是携带GA单倍型的个体相比携带AA单倍型个体罹患鼻咽癌的风险更低(OR=0.69,95%CI=0.48~0.96,P=0.038)。结论在广西百色地区人群中,osteopontin基因SNP rs2728127和rs34527305基因型和等位基因型可能与鼻咽癌的易感性无关,但是其GA单倍型可能降低鼻咽癌的风险。展开更多
文摘Background Osteopontin (OPN) is one kind of cytokine which can play a number of roles in promoting activation of T lymphocyte, regulating balance between Thl and Th2, participating in cell-induced immunologic response and stimulating B lymphocyte to express multi-clone antibodies. Some researches have showed that OPN may be involved in the pathogenesis of systemic lupus erythematosus (SLE). The aim of this study was to investigate possible association of a single nucleotide polymorphism (SNP) at position 9250 in exon 7 of the OPN gene (OPN gene 9250) with SLE in Chinese patients. Methods Totally 158 patients (18 males and 140 females) fulfilled the revised criteria for SLE by the American College of Rheumatology in 1982 and 180 healthy volunteer controls (34 males and 146 females), all from the south of China, consented to participate in the study. OPN gene 9250 polymorphism was detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results The frequency of "IT genotype of the OPN gene 9250 was significantly lower (52.5% vs 70%, P〈0.05) and the frequency of TC genotype of the OPN gene 9250 was significantly higher (43.7% vs 29.4%, P〈0.05) in SLE patients than in controls. There were significant differences in OPN gene 9250 allele and phenotype frequencies between the SLE patients and controls (P〈0.05). When the SLE patients and controls were separated into men and women, significant differences of frequencies were noted in TT genotype, TC genotype and allele of the OPN gene 9250 in women (P〈0.05) but not in men (P〉0.05). Conclusions OPN gene 9250 polymorphism appears to be associated with susceptibility to SLE in Chinese Han ethnic population.