PMID- 28717589 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220408 IS - 2167-8359 (Print) IS - 2167-8359 (Electronic) IS - 2167-8359 (Linking) VI - 5 DP - 2017 TI - Association of polymorphic markers of genes FTO, KCNJ11, CDKAL1, SLC30A8, and CDKN2B with type 2 diabetes mellitus in the Russian population. PG - e3414 LID - 10.7717/peerj.3414 [doi] LID - e3414 AB - BACKGROUND: The association of type 2 diabetes mellitus (T2DM) with the KCNJ11, CDKAL1, SLC30A8, CDKN2B, and FTO genes in the Russian population has not been well studied. In this study, we analysed the population frequencies of polymorphic markers of these genes. METHODS: The study included 862 patients with T2DM and 443 control subjects of Russian origin. All subjects were genotyped for 10 single nucleotide polymorphisms (SNPs) of the genes using real-time PCR (TaqMan assays). HOMA-IR and HOMA-beta were used to measure insulin resistance and beta-cell secretory function, respectively. RESULTS: The analysis of the frequency distribution of polymorphic markers for genes KCNJ11, CDKAL1, SLC30A8 and CDKN2B showed statistically significant associations with T2DM in the Russian population. The association between the FTO gene and T2DM was not statistically significant. The polymorphic markers rs5219 of the KCNJ11 gene, rs13266634 of the SLC30A8 gene, rs10811661 of the CDKN2B gene and rs9465871, rs7756992 and rs10946398 of the CDKAL1 gene showed a significant association with impaired glucose metabolism or impaired beta-cell function. CONCLUSION: In the Russian population, genes, which affect insulin synthesis and secretion in the beta-cells of the pancreas, play a central role in the development of T2DM. FAU - Nikitin, Aleksey G AU - Nikitin AG AD - Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies of Federal Medical and Biology Agency, Moscow, Russian Federation. FAU - Potapov, Viktor Y AU - Potapov VY AD - Clinic of New Medical Technologies "Archimedes", Moscow, Russian Federation. FAU - Brovkina, Olga I AU - Brovkina OI AD - Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies of Federal Medical and Biology Agency, Moscow, Russian Federation. FAU - Koksharova, Ekaterina O AU - Koksharova EO AD - Endocrinology Research Centre, Moscow, Russian Federation. FAU - Khodyrev, Dmitry S AU - Khodyrev DS AD - Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies of Federal Medical and Biology Agency, Moscow, Russian Federation. FAU - Philippov, Yury I AU - Philippov YI AD - Endocrinology Research Centre, Moscow, Russian Federation. FAU - Michurova, Marina S AU - Michurova MS AD - Endocrinology Research Centre, Moscow, Russian Federation. FAU - Shamkhalova, Minara S AU - Shamkhalova MS AD - Endocrinology Research Centre, Moscow, Russian Federation. FAU - Vikulova, Olga K AU - Vikulova OK AD - Endocrinology Research Centre, Moscow, Russian Federation. AD - I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation. FAU - Smetanina, Svetlana A AU - Smetanina SA AD - Tyumen State Medical University, Tyumen, Russian Federation. FAU - Suplotova, Lyudmila A AU - Suplotova LA AD - Tyumen State Medical University, Tyumen, Russian Federation. FAU - Kononenko, Irina V AU - Kononenko IV AD - Endocrinology Research Centre, Moscow, Russian Federation. AD - I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation. FAU - Kalashnikov, Viktor Y AU - Kalashnikov VY AD - Endocrinology Research Centre, Moscow, Russian Federation. FAU - Smirnova, Olga M AU - Smirnova OM AD - Endocrinology Research Centre, Moscow, Russian Federation. AD - I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation. FAU - Mayorov, Alexander Y AU - Mayorov AY AD - Endocrinology Research Centre, Moscow, Russian Federation. AD - I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation. FAU - Nosikov, Valery V AU - Nosikov VV AD - State Research Institute of Genetics and Selection of Industrial Microorganisms, Moscow, Russian Federation. FAU - Averyanov, Alexander V AU - Averyanov AV AD - Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies of Federal Medical and Biology Agency, Moscow, Russian Federation. FAU - Shestakova, Marina V AU - Shestakova MV AD - Endocrinology Research Centre, Moscow, Russian Federation. AD - I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation. LA - eng PT - Journal Article DEP - 20170713 PL - United States TA - PeerJ JT - PeerJ JID - 101603425 PMC - PMC5511504 OTO - NOTNLM OT - Genetic predisposition OT - Polymorphic marker OT - Type 2 diabetes mellitus COIS- The authors declare there are no competing interests. EDAT- 2017/07/19 06:00 MHDA- 2017/07/19 06:01 PMCR- 2017/07/13 CRDT- 2017/07/19 06:00 PHST- 2016/11/25 00:00 [received] PHST- 2017/05/14 00:00 [accepted] PHST- 2017/07/19 06:00 [entrez] PHST- 2017/07/19 06:00 [pubmed] PHST- 2017/07/19 06:01 [medline] PHST- 2017/07/13 00:00 [pmc-release] AID - 3414 [pii] AID - 10.7717/peerj.3414 [doi] PST - epublish SO - PeerJ. 2017 Jul 13;5:e3414. doi: 10.7717/peerj.3414. eCollection 2017.