The association study on the polymorphisms of estrogen receptor α and β genes and systemic lupus erythematosus in Chinese Han cohort of Yunnan Province
10.3760/cma.j.issn.1007-7480.2015.09.002
- VernacularTitle:雌激素受体α和β基因多态性与云南汉族系统性红斑狼疮的相关性研究
- Author:
Xiaolan LI
;
Ping QIU
;
Wenru TANG
;
Hui ZHANG
;
Bing SU
- Publication Type:Journal Article
- Keywords:
Lupus erythematosus,systemic;
Estrogen receptor alpha;
Estrogen receptor beta;
Polymorphisms;
Association study
- From:
Chinese Journal of Rheumatology
2015;19(9):580-585
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the association of polymorphisms of estrogen receptor (ER) α and β genes with systemic lupus erythematosus (SLE) in Chinese Han cohort of Yunnan Province.Methods XbaⅠ and Pvu Ⅱ of ERα gene,Rsa Ⅰ and Alu Ⅰ of ERβ gene were typed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 697 SLE patients and 638 healthy controls.The frequency distribution of the alleles and genotypes were analyzed by Hardy-Weinberg equilibrium test and x2 test.Results ① For ERα gene,the frequency of minor allele of Pvu Ⅱ C in SLE patients was significantly higher than healthy controls (x2=15.427,P=0.001);the allele frequencies of XbaⅠ in SLE patients showed no significant difference compared with healthy controls (P＞0.05).The frequency of minor genotype of Pvu Ⅱ CC in SLE patients was significantly higher than healthy controls (x2=17.371,P=0.011).The frequency of two locus haplotype AATT in SLE patients was significantly lower than healthy controls (x2=6.333,P=0.012);the frequency of the two locus haplotype AACC in SLE patients was significantly higher than healthy controls (x2=7.771,P=0.038).② For ERβ gene,the frequency of minor allele RsaⅠ A in SLE patients was significantly lower than healthy controls (x2=12.595,P=0.013);the allele frequencies of Alu Ⅰ in SLE patients showed no significant differences compared with the healthy controls (P＞0.05).The frequency of minor genotype AA of Rsa Ⅰ in SLE patients was significantly higher than healthy controls (x2=41.456,P=0.000).The frequency of two locus haplotype AAGG in SLE patients was significantly higher than healthy controls (x2=37.063,P=0.000).The frequency of the two locus haplotype AAGA in SLE patients was significantly lower than healthy controls(x2=21.086,P=0.001).③ Pvu Ⅱ C was related with splenomegaly (x2=4.212,P＜0.05).The two locus haplotype AGTC of Xba Ⅰ and Pvu Ⅱ was related with edema (x2=7.898,P＜0.05).Conclusion There are associations between the polymorphisms of ERα and ERβ genes and SLE.The ERα and ERβ genes may be the susceptible genes for SLE in Yunnan Han Chinese Cohort.
