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. 2019 Sep 6;20(18):4378. doi: 10.3390/ijms20184378

Table 1.

Single nucleotide polymorphisms of PPARα, location, and their potential interaction with biochemical findings.

SNP Biochemical and Pathological Changes
rs1800206 C > G (Leu162Val)
chr22:46218377 (GRCh38.p12)
Minor allele:
(1) Increased cardiovascular disease risk
Rise in: Total cholesterol, LDL-cholesterol, Triglycerides, C-reactive protein, Lipoprotein (a) and Apolipoprotein C-III
Decrement in: HDL-cholesterol
(2) Uncertain impact on diabetes development
(3) No association with NAFLD
rs4253776 A > G (intron variant)
chr22:46233582 (GRCh38.p12)
(1) Increased risk of diabetes
rs4253778 G > C (intron 7, G2528C)
chr22:46234737 (GRCh38.p12)
Minor allele:
(1) Increased cardiovascular risk factors
(2) Increased risk of ischemic heart disease
(3) Associated with the development of left ventricular hypertrophy in response to exercise and hypertension
(4) Increased risk of diabetes
(5) Increased levels of Fetuin-A
rs1800234 T > C (Val227Ala)
chr22:46219983 (GRCh38.p12)
Minor allele:
(1) Reduced cholesterolemia and triglyceridemia, particularly in women
(2) Influence on alcohol drinking habits
(3) Lower fat-related indexes
rs4253747 A > T (intron)
chr22:46217340 (GRCh38.p12)
(1) High altitude appetite loss, common symptom of acute mountain sickness