PMID- 30099416 OWN - NLM STAT- MEDLINE DCOM- 20181005 LR - 20221207 IS - 0043-5147 (Print) IS - 0043-5147 (Linking) VI - 71 IP - 4 DP - 2018 TI - [The analysis of association between ENPP1 K121Q polymorphism and risk factors of type 2 diabetes mellitus in ukrainian population]. PG - 815-820 AB - OBJECTIVE: Introduction: More than 100 genes have been described associations between single nucleotide polymorphisms and type 2 diabetes mellitus (T2DM). Among these candidate genes, Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1), is located on the long arm of chromosome 6 (6q23.2) and encodes for a protein which is one of the factors determining the insulin sensitivity. An allelic polymorphism in exon 4 of ENPP1 (rs1044498) has been designated K121Q and widely investigated in T2DM in different populations. The aim: To analyze the association between ENPP1 K121Q polymorphism with the risk factors of type 2 diabetes mellitus in the Ukrainian population. PATIENTS AND METHODS: Materials and methods: Venous blood of 317 patients with type 2 diabetes mellitus and 302 controls was used for analysis. ENPP1 K121Q genotyping was performed using PCR-RFLP method. RESULTS: Results: Our results revealed that ratio of K/K homozygotes, K/Q heterozygotes and Q/Q homozygotes between case and control groups was significantly different (59.3%, 34.1%, 6.6% vs 67.9%, 28.5%, 3.6%, P = 0.05). Method of binary logistic regression shown that a reliable relationship was established in the general group for KQ/QQ vs K/K genetic model (P = 0.027). It was shown that in carriers of the minor Q-allele, the risk of T2DM is 1.4x higher than in homozygotes in the main K-allele (95% CI = 1.043-2.016). After adjusting for age, sex, smoking habit, BMI, obesity and the presence of hypertension, the reliability of these results persisted (P = 0.026). CONCLUSION: Conclusions: ENPP1 K121Q polymorphism is associated with T2DM in Ukrainian population. In carriers of the minor Q-allele the risk of T2DM is 1.4x higher than in homozygotes in the main K-allele. The risk increases in patients with BMI >/= 25 kg/m2. FAU - Marchenko, Irina V AU - Marchenko IV AD - Sumy State University, Sumy, Ukraine. FAU - Dubovyk, Yevhen I AU - Dubovyk YI AD - Sumy State University, Sumy, Ukraine. FAU - Matlai, Olha I AU - Matlai OI AD - Sumy State University, Sumy, Ukraine. FAU - Biesiedina, Antonina A AU - Biesiedina AA AD - Sumy State University, Sumy, Ukraine. FAU - Kniazkova, Polina V AU - Kniazkova PV AD - Sumy State University, Sumy, Ukraine. FAU - Harbuzova, Yelizaveta A AU - Harbuzova YA AD - Sumy State University, Sumy, Ukraine. LA - rus PT - Journal Article PL - Poland TA - Wiad Lek JT - Wiadomosci lekarskie (Warsaw, Poland : 1960) JID - 9705467 RN - EC 3.1.4.- (Phosphoric Diester Hydrolases) RN - EC 3.1.4.1 (ectonucleotide pyrophosphatase phosphodiesterase 1) RN - EC 3.6.1.- (Pyrophosphatases) SB - IM MH - Adult MH - Alleles MH - Diabetes Mellitus, Type 2/diagnosis/*genetics MH - Female MH - Genetic Association Studies MH - Humans MH - Male MH - Middle Aged MH - Obesity/complications/genetics MH - Phosphoric Diester Hydrolases/*genetics MH - Polymorphism, Genetic/*genetics MH - *Polymorphism, Restriction Fragment Length MH - Polymorphism, Single Nucleotide MH - Pyrophosphatases/*genetics MH - Ukraine MH - White People/*genetics OTO - NOTNLM OT - type 2 diabetes mellitus OT - ENPP1 OT - gene polymorphism EDAT- 2018/08/14 06:00 MHDA- 2018/10/06 06:00 CRDT- 2018/08/13 06:00 PHST- 2018/08/13 06:00 [entrez] PHST- 2018/08/14 06:00 [pubmed] PHST- 2018/10/06 06:00 [medline] PST - ppublish SO - Wiad Lek. 2018;71(4):815-820.