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Fulltext Effects of leptin gene variants on obesity and its attributes in Malay population

Amiratul Athirah, S., Aryati, A., Wan Rohani, W.T.

Medicine & Health, 2018;13(2):58-71.
MyJurnal

Leptin is a hormone that regulates the energy intake and expenditure which is encoded by leptin gene. Leptin gene variants were studied comprehensively in relation with body weight status, but the evidences were indecisive. This study was to determine the association between leptin gene variants, G2548A, H1328080 and A19G with obesity and its attributes in Terengganu, Malaysian population. This study involved a total of 249 Malay subjects (101 healthy adults with normal BMI as the control group and 148 overweight and obese subjects). The anthropometrics data were obtained, blood samples were collected for genetic markers and lipid profile analyses. PCR-RFLP technique was performed to determine the genotype and allele distribution of leptin gene variants. The genotypic and allelic frequencies of leptin gene variants presented no significant difference between groups, G2548A (P = 0.93 and 0.74); H1328080 (P = 0.58 and 0.56); and A19G (P = 0.72 and 0.38) correspondingly. However, there was statistical significant difference between triglyceride level and genotypes of G2548A variant (P = 0.016); between total cholesterol level and H1328080 genotypes (P = 0.027). In addition, multivariate logistic regression projected the male gender (adjusted OR= 26.27; CI= 1.06-1.25; P = 0.009), waist circumference (adjusted OR = 1.15; CI = 1.06-1.25; P = 0.001) and body fat percentage (adjusted OR = 1.43; CI = 1.20-1.70; P
Fulltext Study of association ofTGF-ß1 polymorphism with breast density in a tertiary medical center of Malaysia

Wan Rohani, W. T., Amiratul Athirah S., Nasriah A., Mohaslida, M., Tengku Fatimah Murniwati T. M., Norhasiza M. J., et al.

Medicine & Health, 2017;12(2):312-320.
MyJurnal

Pengesanan awal risiko kanser payudara menggunakan mammografi dapat
mengurangkan kos pengurusan rawatan dan prognosis penyakit ini. Paras
ketumpatan payudara yang dikesan menggunakan mammogram memberi
potensi faktor penyebab kepada risiko kanser payudara. Penghasilan sel epitelial
pada mamari dapat ditentukan oleh faktor genetik. Gen transforming growth
factor-beta (TGF-ß) telah dikenalpasti terlibat di dalam regulasi proliferasi sel dan
pembahagian sel. Kajian ini bertujuan untuk mengukur hubung kait polimorfisme
TGF-ß1 dengan ketumpatan payudara di kalangan wanita yang menjalani saringan
mamografi. Pengesanan genotip bagi tiga polimorfisme TGF-ß1 yang dikenali
sebagai rs1800469, rs1800470 dan rs4803455 dilakukan dengan teknik PCR-RFLP.
Frekuensi alel dan genotip dikira bagi kumpulan kawalan yang terdiri dari kalangan
wanita yang telah dikelaskan BIRADS 1 dan BIRADS 2, manakala kumpulan kes
terdiri dari kalangan wanita yang telah dikelaskan BIRADS 3 dan BIRADS 4.Dua
polimorfisme (rs1800469 dan rs1800470) telah menunjukkan hubung kait yang
signifikan dengan ketumpatan payudara dengan nilai P= 0.004 dan 0.003. Namun
begitu polimorfisme yang ketiga iaitu rs4803455 tidak menunjukkan hubung kait
(nilai P=0.090). Analisa hubung kait haplotaip mencadangkan haplotaip GAA
berupaya memberi kecenderungan ketumpatan payudara (nilai P=0.02, OR=2.21
[1.07-4.55]) berbanding haplotaip AAC yang berupaya untuk memberi kesan
perlindungan dari penghasilan ketumpatan payudara (nilai P=0.004, OR=0.40 [0.21-0.77]). Data asas hubung kait dan haplotaip ini memberi penjelasan kaitan
polimorfisme TGF-ß1 dengan ketumpatan payudara dan memberi maklumat fungsi
polimorfisme di dalam mempengaruhi pembentukan ketumpatan payudara.
Haplotype analysis of leptin gene polymorphisms in obesity among Malays in Terengganu, Malaysia population

Wan Rohani WT, Aryati A, Amiratul Athirah S

Med J Malaysia, 2018 10;73(5):281-285.
PMID: 30350805 MyJurnal

INTRODUCTION: The prevalence of overweight and obesity has developed the critical global threat which leads to metabolic risks and mortality. A Leptin hormone that regulates the food intake as well as food expenditure is encoded by Leptin gene. The gene has shown a pivotal role in obesity pathogenesis. This study was sought to determine the SNPs and haplotype association of the Leptin gene that were assigned as G2548A, H1328080, and A19G with obesity among Malays in Terengganu, Malaysia.
METHODOLOGY: This study comprised of 249 participants (148 overweight/ obese as a case group and 101 lean participants as controls). The PCR-RFLP technique was performed to distinguish the genotype distribution of Leptin gene polymorphisms. The allele and genotype frequencies were assessed for single and haplotype analyses.
RESULT: Single association analysis of G2548A (P=0.74), A19G (P=0.38), and H1328080 (P=0.56) polymorphisms yielded no statistically significant association. However, haplotype association analysis showed a suggestive indication of AAG haplotype (G2548A, H1328080, and A19G sequence) with susceptibility effect towards obesity predisposition [P=0.002, OR=8.897 (1.59-9.78)].
CONCLUSION: This data on single and haplotype might disclose the preliminary exposure and pave the way for the obesity development with an evidence of revealed susceptibility to obesity.

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