Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control studyReportar como inadecuado

Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Medical Genetics

, 18:76

Genetic epidemiology and genetic associations


BackgroundWe evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus T2DM, obesity risk, and metabolic syndrome MS in a Kazakh cohort.

MethodsA total of 1336 subjects, including 408 T2DM patients and 928 control subjects, were recruited from an outpatient clinic and genotyped for 32 polymorphisms previously associated with T2DM and obesity-related phenotypes in other ethnic groups. For association studies, the chi-squared test or Fisher’s exact test for binomial variables were used. Logistic regression was conducted to explore associations between the studied SNPs and the risk of developing T2DM, obesity, and MS, after adjustments for age and sex.

ResultsAfter excluding four SNPs due to Hardy-Weinberg disequilibrium, significant associations in age-matched cohorts were found betweenT2DM and the following SNPs: rs9939609 FTO, rs13266634 SLC30A8, rs7961581 TSPAN8-LGR5, and rs1799883 FABP2. In addition, examination of general unmatched T2DM and control cohorts revealed significant associations between T2DM and SNPsrs1799883 FABP2 and rs9939609 FTO. Furthermore, polymorphisms in the FTO gene were associated with increased obesity risk, whereas polymorphisms in the FTO and FABP2 genes were also associated with the risk of developing MS in general unmatched cohorts.

ConclusionWe confirmed associations between polymorphisms within the SLC30A8, TSPAN8-LGR5, FABP2, and FTO genes and susceptibility to T2DM in a Kazakh cohort, and revealed significant associations with anthropometric and metabolic traits. In particular, FTO and FABP2 gene polymorphisms were significantly associated with susceptibility to MS and obesity in this cohort.

KeywordsGenetic variants Kazakh cohort Metabolic syndrome Obesity Type 2 diabetes mellitus AbbreviationsBMIbody mass index

CIconfidence interval

DBPdiastolic blood pressure

GWASgenome wide association studies

HChip circumference

HDLhigh-density lipoproteins

HWEHardy–Weinberg equilibrium

LDLlow-density lipoproteins

MSmetabolic syndrome

ORodds ratio

SBPsystolic blood pressure

SNPsingle nucleotide polymorphism

T2DMtype 2 diabetes mellitus


WCwaist circumference

WHOWorld Health Organization

Electronic supplementary materialThe online version of this article doi:10.1186-s12881-017-0443-2 contains supplementary material, which is available to authorized users.

Download fulltext PDF

Autor: Nurgul Sikhayeva - Aisha Iskakova - Nuria Saigi-Morgui - Elena Zholdybaeva - Chin-Bin Eap - Erlan Ramanculov


Documentos relacionados