Investigation of genetic markers associated to type 2 diabetes mellitus in Santarém-Pará

Souza, Adjanny Estela Santos de; Silva, Caio Henrique Silva da; Oliveira, Rita de Cássia Silva de; Guimarães, Ana Paula Araújo; Silva, Aylla Núbia Lima Martins da; Diniz, Isabela Guerreiro; Oliveira, Haiala Soter Silva de; Sousa, Diego Sarmento de; Figueiredo, Fernanda Andreza de Pinho Lott; Costa, Greice de Lemos Cardoso; Guerreiro, João Farias

doi:10.1590/1678-4685-GMB-2023-0107

Acessibilidade / Reportar erro

Brasil

Genetics and Molecular Biology

Español English

Brasil

Español English

sumário « anterior atual seguinte »

Sumário

Human and Medical Genetics • Genet. Mol. Biol. 47 (3) • 2024 • https://doi.org/10.1590/1678-4685-GMB-2023-0107 copy

Investigation of genetic markers associated to type 2 diabetes mellitus in Santarém-Pará

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Genetic, epigenetic and environmental factors play an important role in the genesis of Type 2 Diabetes Mellitus (T2D). In the genetic context, one of the strategies used to investigate possible associations with diabetes is the search for Single Nucleotide Polymorphisms (SNPs), involving the comparison of alelle frequencies, the phenotypic variations and other relevant factors, such as environmental influences and lifestyle choices, Thus, the aim of this study was to find the relationship of risk variants for T2D in SNPs (rs4994) in the ADRB3 gene; (rs1799854) in the ABCC8 gene; (rs7901695 and rs12255372) in the TCF7L2 gene; and (rs8050136) in the FTO gene in a sample of the population of the municipality of Santarém (PA), Brazilian Amazon, in the northern region of Brazil. ABCC8 (rs1799854 C>T) showed a statistically significant association with T2D. Each chosen gene and SNP has been previously implicated in T2D risk according to existing scientific literature, owing to their roles in glucose regulation and body fat.

Keywords:
Genetic polymorphism; population genetics; diabetes mellitus; single nucleotides polymorphisms

Characteristics	Diabetes (209) (Minimum-maximum)	Control (201) (Minimum-maximum))	P
AGE	62.33 ± 10.7(33-86)	61.40 ± 12.5(36-97)	0.256
Gender %(N) F/M	76.1%(159)/23.9%(50)	68.7%(138)/31.3%(63)	0.093
BMI	27.03± 4.1(17.45-37.48)	26.25 ± 4.93(17.12-49.31)	0.032
Glycemia	200.54 ± 93.2(59-530)	87.46 ± 8.0(65-107)	0.000
SBP	145.16 ± 24.3(70-258)	143.18 ± 23.8(90- 232)	0.364
DBP	90.32 ± 15.8(45-160)	91.56 ± 14.8(50- 132)	0.195
Triglycerides	255.11 ± 180.2(55-375)	188.75 ± 130.8(30- 750)	0.000
Total cholesterol	196.85 ± 56.0(73-375)	194.77 ± 43.7(76-338)	0.936
HDL	41.36±9.6	45.43±11.7	0.001
LDL	110.15±46.1	113.37±40.4	0.392
Classification by weight
Normal weight	33%	42.8%	0.101
Overweight	44%	39.8%
Obese	23%	17.4%
Fasting blood glucose
Normal	7.7%	99.5%	0.000
Altered	15.3%	0.5%
Elevated	77%	0.0
Blood pressure
Normal	27.3%	35.8%	0.062
Elevated	72.7%	64.2%	0.062
Triglyceride
Desirable	45%	67.7%	0.000
Elevated	55%	32.3%	0.000
Cholesterol
Desirable	81.3%	87.6%	0.083
Increased	18.7%	12.4%	0.083

			Populations
Gene/SNP	Allele	SANTARÉM	AFR	AMR	EUR	EAS	SAS	ALL
ABCC8 rs1799854	C	0.505	0.862	0.464	0.580	0.449	0.681	0.632
ABCC8 rs1799854	T	0.495	0.138	0.536	0.420	0.551	0.319	0.368
ADRB3 rs4994	T	0.830	0.905	0.880	0.918	0.869	0.843	0.885
ADRB3 rs4994	C	0.169	0.095	0.120	0.082	0.131	0.157	0.115
FTO rs8050136	C	0.710	0.567	0.745	0.586	0.834	0.711	0.678
FTO rs8050136	A	0.286	0.433	0.255	0.414	0.166	0.289	0.322
TCF7L2 rs7901695	T	0.721	0.564	0.744	0.656	0.977	0.704	0.718
TCF7L2 rs7901695	C	0.278	0.436	0.256	0.344	0.023	0.296	0.282
TCF7L2 rs12255372	G	0.801	0.698	0.781	0.708	0.990	0.779	0.786
TCF7L2 rs12255372	T	0.198	0.302	0.219	0.292	0.010	0.221	0.214

Gene (rsId)	Genotype/all	Case N(209)	Control N(201)	Allelic OR (95% IC)	Co-dominant OR (95% IC)	Dominant OR (95% IC)	Recessive OR (95% IC)
Gene ABCC8 rs1799854				C vs T	CC vs CT. TT	CC vs CT+TT	CC+CT vs TT
	CC	47 (22.5%)	65(32.3%)	1.34 (1.02-1.76)	1.0	1.0	1.0
	CT	102(48.8)	88(43.8%)	P=0.036	1.65(1.01-2.68)	1.65(1.05-0.55)	1.28(0.83-2.02)
	TT	60(28.7%)	48(23.9%)		P=0.042	P=0.029	P=0.251
	ALLELE C	196(46.9)	218(54.2%)		1.80(1.04-3.12)
	ALLELET	222(53.1)	184(45.8%)		P=0.034
Gene ADRB3 rs4994				T vs C	TT vs TC. CC	TT vs TC+CC	TT+TC vs CC
	TT	145(69.4%)	144(71.6%)	0.88(0.61-1.24)	1.0	1.0	1.0
	TC	53(25.4%)	50(24.9%)	P=0.440	0.99(0.62-1.57)	1.06(0.69-0.64)	1.58(0.59-4.26)
	CC	11(5.3%)	7(3.5%)		P=0.980	P=0.775	P=0.359
	ALLELE T	343(82.1%)	338(84.1%)		1.48(0.54-4.03)
	ALLELE C	75(17.9%)	64(15.9%)		P=0.439
Gene FTO rs8050136				C vs A	CC vs CA. AA	CC vs CA+AA	CC+CA vs AA
	CC	106(50.7%)	106(52.7%)	0.92(0.68-1.25)	1.0	1.0	1.0
	CA	83(39.7%)	78(38.8%)	P=0.620	1.41(0.74-1.73)	1.11(0.75-1.64)	1.49(0.57-2.27)
	AA	20(9.6%)	17(8.5%)		P=0.540	P=0.591	P=0.692
	ALLELE C	295(70.6%)	290(72.1)%		1.12(0.54-2.30)
	ALLELE A	123(29.4%)	112(27.9%)		P=0.749
Gene TCF7L2 rs7901695				T vs C	TT vs TC. CC	TT vs TC+CC	TT+TC vs CC
	TT	110(52.6%)	110(54.7%)	0.93(0.68-1.26)	1.0	1.0	1.0
	TC	79(37.8%)	73(36.3%)	P=0.665	1.04(0.68-1.26)	1.07(0.66-1.71)	1.09(0.53-2.15)
	CC	20(9.6%)	18(9.0%)		P>0.05	P=0.778	P=0.809
	ALLELE T	299(71.5%)	293(72.9%)		1.13(0.49-2.61
	ALLELE C	119(28.5%)	109(27.1%)		P=0.760
Gene TCFL2 rs12255372				G vs T	GG vs GT. TT	GG vs GT+TT	GG+CT vs TT
	GG	138(66.0%)	134(66.7%)	0.97(0.69-1.37)	1	1	1
	GT	58(27.8%)	55(27.4%)	P=0.873	1.01(0.63-1.61)	0.99(0.60-1.64)	0.98(0.40-4.37)
	TT	13(6.2%)	12(6.0%)		P=0.946	P=0.989	P=0.971
	ALLELE G	334(79.9%)	323(80.3%)		1.04(0.41-2.60)
	ALLELE T	84(20.1%)	79(19.7%)		P=0.929

Sociedade Brasileira de Genética Rua Cap. Adelmio Norberto da Silva, 736, 14025-670 Ribeirão Preto SP Brazil, Tel.: (55 16) 3911-4130 / Fax.: (55 16) 3621-3552 - Ribeirão Preto - SP - Brazil
E-mail: editor@gmb.org.br

Acompanhe os números deste periódico no seu leitor de RSS

[1] Send correspondence to
Caio Henrique Silva da Silva. Universidade do Estado do Pará, Faculdade de Medicina, Departamento de Morfologia e Ciências Fisiológicas, Tv. Perebebuí, 2623, Marco, 66087-662, Belém, PA, Brazil. E-mail: henrique.caio08@gmail.com