Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ single-nucleotide polymorphisms with lipid and glycemic profiles of patients with Berardinelli-Seip syndrome.
OBJECTIVE
Berardinelli-Seip syndrome (BSS) is a recessive autosomal genetic disorder characterized by the near loss of adipose tissue with disturbance in lipid metabolism.


METHODS
Biochemical and hormonal parameters and Pro12Ala, Pvull, Avall, Sstl and ADIPOQ polymorphisms in 22 patients with BSS were analyzed and examined for a possible association with lipid profiles.


RESULTS
Parental consanguinity, insulin resistance and diabetes mellitus were observed in 63.6, 81.8 and 59.1% of patients, respectively. All individuals presented high triglyceride levels, and 68.1% of patients showed high cholesterol levels. The Pro/Pro genotype of the Pro12Ala polymorphism of the PPARγ2 gene was found in 86.3% of patients; the Ala/Ala variant was not observed in any patient. The PvuII polymorphism of the LPL gene showed a frequency of 50% for the P1P2 variant. The AvaII polymorphism of the LDLR gene showed a similar frequency of 40.9% for both CT and TT variants. The S1S1 genotype of the Sstl polymorphism of the APOC3 gene had a frequency of 86.3%. The CC allele of the ADIPOQ polymorphism of the adiponectin gene was found in 54.6% of patients.


CONCLUSIONS
No association was found between lipid parameters and the relevant Pvull, Avall and Sstl polymorphisms. However, we did observe an association of the Pro12Ala and ADIPOQ polymorphisms with higher lipid levels, suggesting a close relationship between these factors.
Department of Internal Medicine, Federal University of Rio Grande do Norte, Natal, Brazil.
Maria F P
MF
Baracho
Adriana B
AB
Nunes
Mario H
MH
Hirata
Rosario D C
RD
Hirata
Christina M
CM
Fajardo
Maria G N
MG
Santos
Bernardo L
BL
Wajchenberg
Luiz A
LA
De Marco
José
J
Brandão-Neto
D052242:Adiponectin / Q000235:genetics*; D000328:Adult; D001938:Brazil; D002784:Cholesterol / Q000097:blood; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000097:blood / Q000235:genetics*; D008297:Male; D047495:PPAR gamma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood; D044465:White People
D052242:Adiponectin; D047495:PPAR gamma; D014280:Triglycerides; D002784:Cholesterol