ASSOCIATION OF VDR GENE VARIANT (rs1544410)
WITH TYPE 2 DIABETES IN A PAKISTANI COHORT
Khan A1, Khan S2, Aman A1, Ali Y1, Jamal M3, Rahman B4, Ahmad M4, Aasim M4, Jalil F1,*, Shah AA4
*Corresponding Author: Dr. Fazal Jalil, Department of Biotechnology, Abdul Wali Khan University
Mardan, Toru Road, Near Sheikhmaltoon Twon 23300, Mardan, Khyber-Pakhtunkhwa Province, Pakistan.
E-mail: fazaljalil@awkum.edu.pk
page: 59
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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.
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