PMID- 32854233
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201027
IS  - 2075-4426 (Print)
IS  - 2075-4426 (Electronic)
IS  - 2075-4426 (Linking)
VI  - 10
IP  - 3
DP  - 2020 Aug 25
TI  - Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity 
      Onset Diabetes of the Young.
LID - 10.3390/jpm10030100 [doi]
LID - 100
AB  - The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and 
      insulin signaling. Recently, it was found that APPL1 mutations can cause maturity 
      onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in 
      patients with a maturity-onset diabetes of the young (MODY) phenotype, and 
      prevalence of these mutations was estimated in a Russian population, among type 2 
      diabetes mellitus (T2DM) and MODY patients. Whole-exome sequencing or targeted 
      sequencing was performed on 151 probands with a MODY phenotype, with subsequent 
      association analysis of one of identified variants, rs11544593, in a white 
      population of Western Siberia (276 control subjects and 169 T2DM patients). 
      Thirteen variants were found in APPL1, three of which (rs79282761, rs138485817, 
      and rs11544593) are located in exons. There were no statistically significant 
      differences in the frequencies of rs11544593 alleles and genotypes between T2DM 
      patients and the general population. In the MODY group, AG rs11544593 genotype 
      carriers were significantly more frequent (AG vs. AA + GG: odds ratio 1.83, 
      confidence interval 1.15-2.90, p = 0.011) compared with the control group. An 
      association of rs11544593 with blood glucose concentration was revealed in the 
      MODY group. The genotyping data suggest that rs11544593 may contribute to 
      carbohydrate metabolism disturbances.
FAU - Ivanoshchuk, Dinara E
AU  - Ivanoshchuk DE
AUID- ORCID: 0000-0002-0403-545X
AD  - Federal research center Institute of Cytology and Genetics, Siberian Branch of 
      Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 
      630090, Russia.
AD  - Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and 
      Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia.
FAU - Shakhtshneider, Elena V
AU  - Shakhtshneider EV
AUID- ORCID: 0000-0001-6108-1025
AD  - Federal research center Institute of Cytology and Genetics, Siberian Branch of 
      Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 
      630090, Russia.
AD  - Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and 
      Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia.
FAU - Rymar, Oksana D
AU  - Rymar OD
AD  - Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and 
      Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia.
FAU - Ovsyannikova, Alla K
AU  - Ovsyannikova AK
AD  - Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and 
      Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia.
FAU - Mikhailova, Svetlana V
AU  - Mikhailova SV
AD  - Federal research center Institute of Cytology and Genetics, Siberian Branch of 
      Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 
      630090, Russia.
FAU - Orlov, Pavel S
AU  - Orlov PS
AD  - Federal research center Institute of Cytology and Genetics, Siberian Branch of 
      Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 
      630090, Russia.
AD  - Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and 
      Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia.
FAU - Ragino, Yuliya I
AU  - Ragino YI
AUID- ORCID: 0000-0002-4936-8362
AD  - Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and 
      Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia.
FAU - Voevoda, Mikhail I
AU  - Voevoda MI
AUID- ORCID: 0000-0001-9425-413X
AD  - Federal research center Institute of Cytology and Genetics, Siberian Branch of 
      Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 
      630090, Russia.
LA  - eng
GR  - 14-15-00496-P/Russian Science Foundation/
GR  - capital A, Cyrilliccapital A, Cyrilliccapital A, Cyrilliccapital A, Cyrillic-capital A, Cyrillic19-119100990053-4/Budget topic in state assignment/
PT  - Journal Article
DEP - 20200825
PL  - Switzerland
TA  - J Pers Med
JT  - Journal of personalized medicine
JID - 101602269
PMC - PMC7565648
OTO - NOTNLM
OT  - APPL1
OT  - diabetes mellitus
OT  - maturity onset diabetes of the young type 14
OT  - population
OT  - single-nucleotide variant
COIS- The authors declare that they have no conflict of interest related to the 
      publication of this article.
EDAT- 2020/08/29 06:00
MHDA- 2020/08/29 06:01
PMCR- 2020/09/01
CRDT- 2020/08/29 06:00
PHST- 2020/06/30 00:00 [received]
PHST- 2020/08/03 00:00 [revised]
PHST- 2020/08/22 00:00 [accepted]
PHST- 2020/08/29 06:00 [entrez]
PHST- 2020/08/29 06:00 [pubmed]
PHST- 2020/08/29 06:01 [medline]
PHST- 2020/09/01 00:00 [pmc-release]
AID - jpm10030100 [pii]
AID - jpm-10-00100 [pii]
AID - 10.3390/jpm10030100 [doi]
PST - epublish
SO  - J Pers Med. 2020 Aug 25;10(3):100. doi: 10.3390/jpm10030100.