PMID- 26753002
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160112
LR  - 20201001
IS  - 1758-5996 (Print)
IS  - 1758-5996 (Electronic)
IS  - 1758-5996 (Linking)
VI  - 8
DP  - 2016
TI  - rs1888747 polymorphism in the FRMD3 gene, gene and protein expression: role in 
      diabetic kidney disease.
PG  - 3
LID - 10.1186/s13098-015-0121-5 [doi]
LID - 3
AB  - BACKGROUND: We carried out a case-control study in patients with type 2 diabetes 
      mellitus (T2DM) to evaluate the association between seven single nucleotide 
      polymorphisms (SNPs) previously described to be linked to diabetic kidney disease 
      (DKD) in type 1 diabetes mellitus (T1DM). Additionally, we evaluated gene and 
      protein expression related to the polymorphism associated with DKD. METHODS: The 
      association study included 1098 T2DM patients (718 with DKD and 380 without DKD). 
      Out of the 13 polymorphisms associated with DKD in a previous study with T1DM, 
      seven were chosen for evaluation in this sample: rs1888747, rs9521445, rs39075, 
      rs451041, rs1041466, rs1411766 and rs6492208. The expression study included 91 
      patients who underwent nephrectomy. Gene expression was assessed by RT-qPCR and 
      protein expression in kidney samples was quantified by western blot and it 
      localization by immunohistochemistry. RESULTS: The C/C genotype of rs1888747 SNP 
      was associated with protection for DKD (OR = 0.6, 95 % CI 0.3-0.9; P = 0.022). 
      None of the other SNPs were associated with DKD. rs1888747 is located near FRMD3 
      gene. Therefore, FRMD3 gene and protein expression were evaluated in human kidney 
      tissue according to rs1888747 genotypes. Gene and protein expression were similar 
      in subjects homozygous for the C allele and in those carrying the G allele. 
      CONCLUSIONS: Replication of the association between rs1888747 SNP and DKD in a 
      different population suggests that this link is not the result of chance. 
      rs1888747 SNP is located at the FRMD3 gene, which is expressed in human kidney. 
      Therefore, this gene is a candidate gene for DKD. However, in this study, no 
      rs1888747 genotype or specific allele effect on gene and/or protein expression of 
      the FRMD3 gene was demonstrated.
FAU - Buffon, Marjorie P
AU  - Buffon MP
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil ; Post-Graduation 
      Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do 
      Sul, Porto Alegre, RS Brazil.
FAU - Carpena, Mariana P
AU  - Carpena MP
AD  - Post-Graduation Program in Medical Sciences: Endocrinology, Universidade Federal 
      do Rio Grande do Sul, Porto Alegre, RS Brazil.
FAU - Sortica, Denise A
AU  - Sortica DA
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil ; Post-Graduation 
      Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do 
      Sul, Porto Alegre, RS Brazil.
FAU - Santer, Andressa
AU  - Santer A
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil.
FAU - Carlessi, Rodrigo
AU  - Carlessi R
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil ; Post-Graduation 
      Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do 
      Sul, Porto Alegre, RS Brazil.
FAU - de Souza, Bianca M
AU  - de Souza BM
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil ; Post-Graduation 
      Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do 
      Sul, Porto Alegre, RS Brazil.
FAU - Edelweiss, Maria I
AU  - Edelweiss MI
AD  - Pathology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS Brazil 
      ; Post-Graduation Program in Medical Sciences: Ginecology, Universidade Federal 
      do Rio Grande do Sul, Porto Alegre, RS Brazil.
FAU - Berger, Milton
AU  - Berger M
AD  - Urology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS Brazil.
FAU - Crispim, Daisy
AU  - Crispim D
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil ; Post-Graduation 
      Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do 
      Sul, Porto Alegre, RS Brazil.
FAU - Canani, Luis H
AU  - Canani LH
AD  - Endocrine Division, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 
      2350, predio 12, 4 degrees  andar, Porto Alegre, RS 90035-003 Brazil ; Post-Graduation 
      Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do 
      Sul, Porto Alegre, RS Brazil.
LA  - eng
PT  - Journal Article
DEP - 20160108
PL  - England
TA  - Diabetol Metab Syndr
JT  - Diabetology & metabolic syndrome
JID - 101488958
PMC - PMC4706705
OTO - NOTNLM
OT  - Diabetic kidney disease
OT  - FRMD3 gene expression
OT  - Human kidney
OT  - Polymorphism
EDAT- 2016/01/12 06:00
MHDA- 2016/01/12 06:01
PMCR- 2016/01/08
CRDT- 2016/01/12 06:00
PHST- 2015/07/15 00:00 [received]
PHST- 2015/12/23 00:00 [accepted]
PHST- 2016/01/12 06:00 [entrez]
PHST- 2016/01/12 06:00 [pubmed]
PHST- 2016/01/12 06:01 [medline]
PHST- 2016/01/08 00:00 [pmc-release]
AID - 121 [pii]
AID - 10.1186/s13098-015-0121-5 [doi]
PST - epublish
SO  - Diabetol Metab Syndr. 2016 Jan 8;8:3. doi: 10.1186/s13098-015-0121-5. eCollection 
      2016.