PubTransformer

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PMID- 28427360
OWN - NLM
STAT- In-Process
DA  - 20170421
LR  - 20170421
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Apr 20
TI  - Association of novel polymorphisms in TMEM39A gene with systemic lupus
      erythematosus in a Chinese Han population.
PG  - 43
LID - 10.1186/s12881-017-0405-8 [doi]
AB  - BACKGROUND: This study aimed to assess the association between 14 single
      nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3,
      GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han
      population sample. METHODS: We carried out a case-control study of 415 patients
      with SLE and 470 healthy controls without autoimmune disease or cancer. DNA for
      genetic analysis was isolated from the blood of all subjects using standard
      phenol-chloroform method. TagSNPs were identified using genotype data from the
      panel (Han Chinese in Beijing) of the HapMap Project and were selected using the 
      Haploview program. Genotyping assay was conducted using the Sequenom MassARRAY
      iPLEX Gold platform. The frequencies of the alleles and genotypes were calculated
      and analyzed. Association studies and haplotype analysis were also performed.
      RESULTS: The genotypic frequencies of rs12493175 and rs13062955 were
      significantly different between the SLE patients and the healthy controls.
      Compared with the common homozygous genotype, the CT and CT + TT genotypes in
      rs12493175 and the AC and AC + AA genotypes in rs13062955 was observed to
      significantly reduce the risk of SLE. The haplotype analysis of TMEM39A
      polymorphisms showed that the CGTA haplotype frequency was significantly low in
      the SLE patients. CONCLUSION: Our findings identified three novel associations in
      SNPs located in the TMEM39A gene associated with SLE susceptibility in a Chinese 
      Han population.
FAU - Cai, Xinze
AU  - Cai X
AD  - Central Laboratory, First Affiliated Hospital of China Medical University,
      Nanjingbei Street, Heping District, Shenyang, 110001, China.
FAU - Huang, Wenyue
AU  - Huang W
AD  - Central Laboratory, First Affiliated Hospital of China Medical University,
      Nanjingbei Street, Heping District, Shenyang, 110001, China.
FAU - Liu, Xudong
AU  - Liu X
AD  - Central Laboratory, First Affiliated Hospital of China Medical University,
      Nanjingbei Street, Heping District, Shenyang, 110001, China.
FAU - Wang, Lining
AU  - Wang L
AD  - Department of Nephrology, First Affiliated Hospital of China Medical University, 
      Nanjingbei Street, Heping District, Shenyang, 110001, China.
FAU - Jiang, Yi
AU  - Jiang Y
AD  - Central Laboratory; Department of Dermatology, First Affiliated Hospital of China
      Medical University, Nanjingbei Street, Heping District, Shenyang, 110001, China. 
      [email protected]
LA  - eng
PT  - Journal Article
DEP - 20170420
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
OTO - NOTNLM
OT  - Single nucleotide polymorphism
OT  - Susceptibility
OT  - Systemic lupus erythematosus
EDAT- 2017/04/22 06:00
MHDA- 2017/04/22 06:00
CRDT- 2017/04/22 06:00
PHST- 2016/07/20 [received]
PHST- 2017/04/13 [accepted]
AID - 10.1186/s12881-017-0405-8 [doi]
AID - 10.1186/s12881-017-0405-8 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Apr 20;18(1):43. doi: 10.1186/s12881-017-0405-8.

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