<abstract xmlns="http://www.w3.org/1999/xhtml">

The present study was designed to measure the mean values of body mass index (BMI), random blood sugar/ fast ing blood sugar (RBS/FBS) tests, and Hb A1c and to investigate the role of a genetic variant rs1544410 in the <italic>VDR</italic> gene in a Pakistani cohort. For this purpose, a total of 917 samples including 469 diabetes mellitus type 2 (T2DM), 145 DM type 1 (T1DM), and 303 healthy control were collected. Out of the total sample set, 500 individuals (250 T2DM cases and 250 controls) were genotyped for rs1544410. It was found that 65 (26.0%) cases and 32 (12.8%) controls had homozygous AA, while 69 (27.6%) cases and 139 (55.6%) controls had heterozygous AG, and 116 (46.4%) cases and 79 (31.6%) controls had homozygous GG (χ2 = 41.81, <italic>p</italic> = 0.0001). In addition, a similar distribution of allele frequency was determined in cases and controls [<italic>p</italic> value = 0.866; odds ratio (OR) = 0.967; relative risk (RR) = 1.034]. A significant difference was observed in homozygous dominant [OR = 2.394 (1.501-3.816); RR = 1.46 (1.225-1.740); <italic>p</italic> = 0.003] and homozygous recessive models [OR = 2.970 (2.086-4.227); RR = 1.798 (1.501-2.154); <italic>p</italic> = &lt;0.0001] analysis of rs1544410 in the <italic>VDR</italic> gene. These findings suggest that the <italic>VDR</italic> gene is associated with T2DM and genotype GG of genetic variant rs1544410 is the susceptible genotype in our Pakistani cohort.</abstract>

The present study was designed to measure the mean values of body mass index (BMI), random blood sugar/ fast ing blood sugar (RBS/FBS) tests, and Hb A1c and to investigate the role of a genetic variant rs1544410 in the VDR gene in a Pakistani cohort. For this purpose, a total of 917 samples including 469 diabetes mellitus type 2 (T2DM), 145 DM type 1 (T1DM), and 303 healthy control were collected. Out of the total sample set, 500 individuals (250 T2DM cases and 250 controls) were genotyped for rs1544410. It was found that 65 (26.0%) cases and 32 (12.8%) controls had homozygous AA, while 69 (27.6%) cases and 139 (55.6%) controls had heterozygous AG, and 116 (46.4%) cases and 79 (31.6%) controls had homozygous GG (χ2 = 41.81, p = 0.0001). In addition, a similar distribution of allele frequency was determined in cases and controls [p value = 0.866; odds ratio (OR) = 0.967; relative risk (RR) = 1.034]. A significant difference was observed in homozygous dominant [OR = 2.394 (1.501-3.816); RR = 1.46 (1.225-1.740); p = 0.003] and homozygous recessive models [OR = 2.970 (2.086-4.227); RR = 1.798 (1.501-2.154); p = <0.0001] analysis of rs1544410 in the VDR gene. These findings suggest that the VDR gene is associated with T2DM and genotype GG of genetic variant rs1544410 is the susceptible genotype in our Pakistani cohort.

Association of <italic>VDR</italic> gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Association of  gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

The present study was designed to measure the mean values of body mass index (BMI), random blood sugar/ fast ing blood sugar (RBS/FBS) tests, and Hb A1c and to...

Category	Age in Years (mean/range)	BMI (kg/m²) (mean/range)	RBS/FBS (mg/dL) (mean/range)	Hb A_1c (%) (age mean)
T1DM (males)	40.0 (5-67)	22.3 (12.7-32.2)	196.7 (122.0-384.0)	9.4 (6.8-15.5)
T1DM (females)	43.1 (15-62)	24.6 (16.0-37.2)	219.1 (8161.0-402.0)	9.6 (7.3-12.1)
T2DM (males)	57.4 (32.0-100.0)	23.4 (13.5-39.8)	245.0 (135-510.0)	9.6 (6.7-13.7)
T2DM (females)	5.5 (29.0-91.0)	22.1 (12.3-37.3)	?269.7 (144.0-510.0)	9.8 (6.9-12.7)
Controls	44.0 (10.0-100.0)	21.2 (14.5-33.7)	112.3 (70.0-168.0)	–

Statistical Model	Genotype	Cases (n=250) (%)	Controls (n=250) (%)	χ² (df=2)	OR (95% CI)	RR (95% CI)	p Value
Genotype Frequency/ Codominant Model	AA	65 (26.0)	32 (12.8)	41.81	–	–	0.0001
	AG	69 (27.6)	139 (55.6)
	GG	116 (46.4)	79 (31.56)
Homozygous Dominant Model	GG	116 (46.4)	79 (31.6)	–	2.970	1.798	<0.0001
Homozygous Dominant Model	AG+AA	134 (28.6)	271 (68.3)	–	(2.086-4.227)	(1.501-2.154)
Homozygous Recessive Model	AA	65 (26.0)	32 (12.8)	–	2.394	1.460	0.003
Homozygous Recessive Model	AG+GG	185 (74.0%	218 (87.2)	–	(1501-3.816)	(1.225-1.740)

Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

Article Category: Original Article

Published Online: Dec 21, 2019

Page range: 59 - 64

DOI: https://doi.org/10.2478/bjmg-2019-0026

Keywords
Allele frequency, Diabetes mellitus type 2 (T2DM), Polymerase chain reaction (PCR), Single nucleotide polymorphism (SNP)

© 2019 Khan A, Khan S, Aman A, Ali Y, Jamal M, Rahman B, Ahmad M, Aasim M, Jalil F, Shah AA, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Upper and lower ranges and mean values of different variables in cases and controls.

Genotype and allele frequencies VDR gene SNP (rs1544410) using codominant, additive, homozygous dominant, homozygous recessive models.

Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

Article Category: Original Article

Published Online: Dec 21, 2019

Page range: 59 - 64

DOI: https://doi.org/10.2478/bjmg-2019-0026

KeywordsAllele frequency, Diabetes mellitus type 2 (T2DM), Polymerase chain reaction (PCR), Single nucleotide polymorphism (SNP)

© 2019 Khan A, Khan S, Aman A, Ali Y, Jamal M, Rahman B, Ahmad M, Aasim M, Jalil F, Shah AA, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Upper and lower ranges and mean values of different variables in cases and controls.

Genotype and allele frequencies VDR gene SNP (rs1544410) using codominant, additive, homozygous dominant, homozygous recessive models.

Keywords
Allele frequency, Diabetes mellitus type 2 (T2DM), Polymerase chain reaction (PCR), Single nucleotide polymorphism (SNP)