PMID- 23903678 OWN - NLM STAT- MEDLINE DCOM- 20141003 LR - 20211021 IS - 1414-431X (Electronic) IS - 0100-879X (Print) IS - 0100-879X (Linking) VI - 46 IP - 7 DP - 2013 Jul TI - Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus. PG - 623-8 LID - S0100-879X2013005033103 [pii] LID - 10.1590/1414-431X20133103 [doi] AB - Recent animal studies have indicated that overexpression of the elongation of long-chain fatty acids family member 6 (Elovl6) gene can cause insulin resistance and beta-cell dysfunction. These are the major factors involved in the development of type 2 diabetes mellitus (T2DM). To identify the relationship between single nucleotide polymorphisms (SNP) of ELOVL6 and T2DM pathogenesis, we conducted a case-control study of 610 Han Chinese individuals (328 newly diagnosed T2DM and 282 healthy subjects). Insulin resistance and islet first-phase secretion function were evaluated by assessment of insulin resistance in a homeostasis model (HOMA-IR) and an arginine stimulation test. Three SNPs of the ELOVL6 gene were genotyped with polymerase chain reaction-restriction fragment length polymorphism, with DNA sequencing used to confirm the results. Only genotypes TT and CT of the ELOVL6 SNP rs12504538 were detected in the samples. Genotype CC was not observed. The T2DM group had a higher frequency of the C allele and the CT genotype than the control group. Subjects with the CT genotype had higher HOMA-IR values than those with the TT genotype. In addition, no statistical significance was observed between the genotype and allele frequencies of the control and T2DM groups for SNPs rs17041272 and rs6824447. The study indicated that the ELOVL6 gene polymorphism rs12504538 is associated with an increased risk of T2DM, because it causes an increase in insulin resistance. FAU - Liu, Y AU - Liu Y AD - Qingdao University, Department of Endocrinology, The Affiliated Hospital of Medical College, China. FAU - Wang, F AU - Wang F FAU - Yu, X L AU - Yu XL FAU - Miao, Z M AU - Miao ZM FAU - Wang, Z C AU - Wang ZC FAU - Chen, Y AU - Chen Y FAU - Wang, Y G AU - Wang YG LA - eng PT - Journal Article DEP - 20130722 PL - Brazil TA - Braz J Med Biol Res JT - Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas JID - 8112917 RN - 0 (ELOVL6 protein, human) RN - EC 2.3.1.- (Acetyltransferases) RN - EC 2.3.1.- (Fatty Acid Elongases) SB - IM MH - Acetyltransferases/*genetics MH - Adult MH - China/ethnology MH - Diabetes Mellitus, Type 2/ethnology/*genetics MH - Fatty Acid Elongases MH - Female MH - Genotype MH - Humans MH - Insulin Resistance/genetics MH - Insulin-Secreting Cells/pathology MH - Male MH - Middle Aged MH - Polymorphism, Restriction Fragment Length MH - Polymorphism, Single Nucleotide/*genetics PMC - PMC3859333 EDAT- 2013/08/02 06:00 MHDA- 2014/10/04 06:00 PMCR- 2013/08/10 CRDT- 2013/08/02 06:00 PHST- 2013/03/13 00:00 [received] PHST- 2013/05/15 00:00 [accepted] PHST- 2013/08/02 06:00 [entrez] PHST- 2013/08/02 06:00 [pubmed] PHST- 2014/10/04 06:00 [medline] PHST- 2013/08/10 00:00 [pmc-release] AID - S0100-879X2013005033103 [pii] AID - 10.1590/1414-431X20133103 [doi] PST - ppublish SO - Braz J Med Biol Res. 2013 Jul;46(7):623-8. doi: 10.1590/1414-431X20133103. Epub 2013 Jul 22.