P-19 ASSOCIATION OF TM6SF2 GENE POLYMORPHISMS WITH CARDIOVASCULAR RISK IN PATIENTS WITH METABOLIC DYSFUNCTION–ASSOCIATED STEATOTIC LIVER DISEASE (MASLD) IN A HISPANIC ADULT POPULATION

Conflict of interest

No

Introduction and Objectives

Genes that influence lipids have led to the discovery of a non-synonymous variant (rs58542926) located in the TM6SF2 gene (transmembrane 6 member of superfamily 2) that is associated not only with the serum lipid levels, including serum total cholesterol, low-density cholesterol (LDL-C), and triglycerides, but also the risk of cardiovascular disease. The Dallas Heart Study reported that rs58542926 is associated with hepatic fatty infiltration. Objective: To establish the frequency of the C> T polymorphism in the TM6SF2 gene (rs58542926).

Patients / Materials and Methods

A multistage random sample was drawn from an inpatient population between 40 and 70 years of age.

We analyzed the DNA of thirty-five (35) patients. Genomic DNA was extracted from peripheral blood leukocytes. For genotyping of SNP rs58542926, the following pair of primers was used: forward = 5′- GGT CTT GGC ACA AAT CCG GT-3′ and reverse = 5′- AAG AGA AAT TGG CAG CTG GA-3′.

Results and Discussion

The frequency of the minor allele T (KK) was 0.000 and the frequency of the ancestral allele C (EE) was 1.0000; These frequencies were similar to those observed in a frequency report from the 1000 genomes project (http://browser.1000genomes.org/). The association with fatty liver infiltration may be due to the founder effect, genetic drift, or possibly population inbreeding. In addition, it could be a selective disadvantage compared to other pathologies such as fatty liver.

Conclusions

The results for the C/C and C/T genotypes studied are like those of other previous studies. The presence of the ancestral C allele (EE) in 100% of the patients suggests a probable genetic deviation or founder effect, probably increasing the frequency of this allele over the other existing alleles.

SAMPLE	1622	1623	1624	1525	1626	GenotYPE
TM6SF2 rs58542926	G	G	C	T	C	C/C
1	G	G	C	T	C	C/C
2	G	G	C	T	C	C/C
3	G	G	C	T	C	C/C
4	G	G	C	T	C	C/C
5	G	G	C	T	C	C/C
6	G	G	C	T	C	C/C
7	G	G	C	T	C	C/C
8	G	G	C	T	C	C/C
9	G	G	C	T	C	C/C
10	G	G	C	T	C	C/C
11	G	G	C	T	C	C/C
12	G	G	C	T	C	C/C
13	G	G	C	T	C	C/C
14	G	G	C	T	C	C/C
15	G	G	C	T	C	C/C
16	G	G	C	T	C	C/C
17	G	G	C	T	C	C/C
18	G	G	C	T	C	C/C
19	G	G	C	T	C	C/C
20	G	G	C	T	C	C/C
21	G	G	C	T	C	C/C
22	G	G	C	T	C	C/C
23	G	G	C	T	C	C/C
24	G	G	C	T	C	C/C
25	G	G	C	T	C	C/C
26	G	G	C	T	C	C/C
27	G	G	C	T	C	C/C
28	G	G	C	T	C	C/C
29	G	G	C	T	C	C/C
30	G	G	C	T	C	C/C
31	G	G	C	T	C	C/C
32	G	G	C	T	C	C/C
33	G	G	C	T	C	C/C
34	G	G	C	T	C	C/C
35	G	G	C	T	C	C/C

Results: TMG polymorphisms