PMID- 26669013
OWN - NLM
STAT- MEDLINE
DCOM- 20151231
LR  - 20210816
IS  - 0019-5189 (Print)
IS  - 0019-5189 (Linking)
VI  - 53
IP  - 11
DP  - 2015 Nov
TI  - Association of estrogen receptor 1 (ESR1) haplotypes with risk for systemic lupus 
      erythematosus among South Indians.
PG  - 714-8
AB  - Systemic lupus erythematosus (SLE) is a complex autoimmune disorder involving 
      genetic, epigenetic and environmental factors and has higher incidence in women. 
      In this study, we explored the association of estrogen receptor 1 (ESR1) 
      rs2234693 (PvuII) and rs9340799 (XbaI) polymorphisms with susceptibility to SLE. 
      PCR-RFLP and ELISA were used for genetic analysis and determination of specific 
      autoantibodies, respectively. The univariate analysis showed no independent 
      association of rs2234693 (OR: 1.14, 95% CI: 0.87 - 1.49, p = 0.36) and rs9340799 
      (OR: 0.87, 95% CI: 0.66-1.14, p = 0.34). The haplotype analysis using SHEsis 
      platform revealed strong linkage disequilibrium between these two polymorphisms 
      (D': 0.81, r2: 0.55). Among the four haplotype groups, the C-A haplotype 
      (rs2234693-rs9340799) was strongly associated with the risk for SLE (OR: 2.10, 
      95% CI: 1.32 - 3.34, p = 0.001). The homozygous variant genotype of rs2234693 
      exhibited elevated TNF-alpha and depleted IFN-alpha, while the effects of rs9340799 were 
      contradictory. The wild genotype of rs2234693 exhibited lower levels of IL-12 
      with number of rs9340799 variant alleles pronouncing this effect. From this 
      study, it is concluded that the ESR1 haplotypes may influence the Th2 cytokine 
      profile and susceptibility to SLE among the South Indians.
FAU - Rupasree, Yedluri
AU  - Rupasree Y
FAU - Naushad, Shaik Mohammad
AU  - Naushad SM
FAU - Rajasekhar, Liza
AU  - Rajasekhar L
FAU - Uma, Addepally
AU  - Uma A
FAU - Kutala, Vijay Kumar
AU  - Kutala VK
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - India
TA  - Indian J Exp Biol
JT  - Indian journal of experimental biology
JID - 0233411
RN  - 0 (ESR1 protein, human)
RN  - 0 (Estrogen Receptor alpha)
SB  - IM
MH  - Case-Control Studies
MH  - Estrogen Receptor alpha/*genetics
MH  - Genetic Predisposition to Disease
MH  - *Haplotypes
MH  - Humans
MH  - India
MH  - Lupus Erythematosus, Systemic/*genetics
EDAT- 2015/12/17 06:00
MHDA- 2016/01/01 06:00
CRDT- 2015/12/17 06:00
PHST- 2015/12/17 06:00 [entrez]
PHST- 2015/12/17 06:00 [pubmed]
PHST- 2016/01/01 06:00 [medline]
PST - ppublish
SO  - Indian J Exp Biol. 2015 Nov;53(11):714-8.