PMID- 36717877
OWN - NLM
STAT- MEDLINE
DCOM- 20230202
LR  - 20230202
IS  - 1601-5223 (Electronic)
IS  - 0018-0661 (Print)
IS  - 0018-0661 (Linking)
VI  - 160
IP  - 1
DP  - 2023 Jan 31
TI  - Forkhead box P3 gene polymorphisms predispose to type 2 diabetes and diabetic 
      nephropathy in the Han Chinese populations: a genetic-association and 
      gender-based evaluation study.
PG  - 3
LID - 10.1186/s41065-023-00264-1 [doi]
LID - 3
AB  - BACKGROUND: Functional mutations or polymorphisms affecting forkhead box P3 
      (FOXP3) can lead to their abnormal FOXP3 gene expression and/or defective Treg 
      cells generation, thus resulting in autoimmune disease and inflammatory 
      disorders. FOXP3 also plays a key role in Type 2 diabetes mellitus (T2DM) and its 
      complications, because the disease usually involves chronic low-grade 
      inflammatory disorders and is associated with long-term immune system imbalance. 
      This study aimed to investigate the association between FOXP3 polymorphisms and 
      the susceptibility to T2DM and type 2 diabetes nephropathy (T2DN) within the Han 
      Chinese populations. METHODS: Polymorphisms in rs3761548C/A and rs2294021C/T were 
      examined in 400 patients (which include an equal number of T2DM and T2DN groups) 
      and 200 healthy controls using PCR-HRM and sequence analysis. RESULTS: The 
      genotype and allelic frequencies of the two single nucleotide polymorphisms 
      (SNPs) were significantly different in T2DM and the progression of diabetes 
      developing to T2DN. The further gender-based evaluation showed that in female 
      subjects, rs3761548C/A was associated with an approximately 3-fold higher threat 
      for T2DM and 4.5-fold for T2DN, while there was no noticeable association with 
      rs2294021C/T; in males, the promoter polymorphism showed an increased 
      predisposition of 5.4-fold and 3.4-fold predisposition to T2DM and T2DN, 
      respectively, while rs2294021 polymorphism could impart a nearly 2-fold risk of 
      developing T2DN. An additional analysis of combined genotypes (rs3761548 
      C/A-rs2294021C/T) revealed that CC-CC and CC-CT can be considered protective 
      combinations in the predisposition of males with diabetes towards T2DN, while 
      AA-CC and AA-TT have the opposite effect. CONCLUSIONS: This study demonstrated 
      the possible involvement of individual and combined genetic associations of 
      rs3761548C/A and rs2294021C/T polymorphisms with the susceptibility to diabetes 
      and diabetic nephropathy in the Han Chinese population, as well as gender bias.
CI  - (c) 2023. The Author(s).
FAU - Wang, Xiaorong
AU  - Wang X
AD  - Department of Pharmacogenomics Laboratory Center, Lanzhou University Second 
      Hospital, Lanzhou, 730030, Gansu, China.
FAU - Liu, Zejing
AU  - Liu Z
AD  - Department of Clinical Laboratory Center, Lanzhou University Second Hospital, 
      Lanzhou, 730030, Gansu, China.
FAU - Zhang, Shangdi
AU  - Zhang S
AD  - Department of Clinical Laboratory Center, Lanzhou University Second Hospital, 
      Lanzhou, 730030, Gansu, China.
FAU - Yang, Yinfeng
AU  - Yang Y
AD  - Department of Pharmacogenomics Laboratory Center, Lanzhou University Second 
      Hospital, Lanzhou, 730030, Gansu, China.
FAU - Wu, Xue
AU  - Wu X
AD  - Lanzhou University Second Hospital, Lanzhou, 730030, Gansu, China.
FAU - Liu, Xinyue
AU  - Liu X
AUID- ORCID: 0000-0002-5061-7477
AD  - Department of Pharmacogenomics Laboratory Center, Lanzhou University Second 
      Hospital, Lanzhou, 730030, Gansu, China. liuxy@lzu.edu.cn.
AD  - Department of Clinical Laboratory Center, Lanzhou University Second Hospital, 
      Lanzhou, 730030, Gansu, China. liuxy@lzu.edu.cn.
LA  - eng
GR  - 21JR11RA130/Science and Technology Program of Gansu Province/
GR  - 21JR7RA399/Science and Technology Program of Gansu Province/
GR  - 2019-ZD-55/Lanzhou Science and Technology Bureau/
GR  - 2019-ZD-60/Lanzhou Science and Technology Bureau/
GR  - 2018-3-46/Lanzhou Science and Technology Bureau/
PT  - Journal Article
DEP - 20230131
PL  - England
TA  - Hereditas
JT  - Hereditas
JID - 0374654
RN  - 0 (Forkhead Transcription Factors)
RN  - 0 (FOXP3 protein, human)
SB  - IM
MH  - Female
MH  - Humans
MH  - Male
MH  - Case-Control Studies
MH  - China
MH  - *Diabetes Mellitus, Type 2/genetics/complications
MH  - *Diabetic Nephropathies/genetics/complications
MH  - East Asian People
MH  - *Forkhead Transcription Factors/genetics
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Polymorphism, Single Nucleotide
PMC - PMC9887859
OTO - NOTNLM
OT  - Diabetic nephropathy
OT  - FOXP3
OT  - Gender-based evaluation
OT  - Single nucleotide polymorphism
OT  - T regulator cells
OT  - Type 2 diabetes mellitus
COIS- The authors declare that they have no known competing financial interests or 
      personal relationships that could have appeared to influence the work reported in 
      this paper.
EDAT- 2023/02/01 06:00
MHDA- 2023/02/02 06:00
PMCR- 2023/01/31
CRDT- 2023/01/31 00:03
PHST- 2022/09/05 00:00 [received]
PHST- 2023/01/13 00:00 [accepted]
PHST- 2023/01/31 00:03 [entrez]
PHST- 2023/02/01 06:00 [pubmed]
PHST- 2023/02/02 06:00 [medline]
PHST- 2023/01/31 00:00 [pmc-release]
AID - 10.1186/s41065-023-00264-1 [pii]
AID - 264 [pii]
AID - 10.1186/s41065-023-00264-1 [doi]
PST - epublish
SO  - Hereditas. 2023 Jan 31;160(1):3. doi: 10.1186/s41065-023-00264-1.