Genetic analysis of the ELOVL6 gene
polymorphism associated with type 2 diabetes mellitus |
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Authors: | Y Liu F Wang XL Yu ZM Miao ZC Wang Y Chen YG Wang |
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Institution: | Department of Endocrinology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao, China |
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Abstract: | 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 β-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. |
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Keywords: | Elongation of long-chain fatty acids family member 6 Single nucleotide polymorphism Type 2 diabetes mellitus Insulin resistance β -cell function |
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