Abstrak: A genetic variant within the CHRNA5-CHRNA3-CHRNB4 region (rs1051730), previously associated with smoking quantity, was recently shown to interact with smoking on obesity predisposition. We attempted to replicate this finding in the Gene-Lifestyle Interactions and Complex Traits Involved in Elevated Disease Risk (GLACIER) Study, a prospective cohort study of adults from northern Sweden (n = 16,426). We also investigated whether a similar interaction is apparent between rs1051730 and snus, a type of moist oral tobacco, to determine whether this interaction is driven by factors that cigarettes and snus have in common, such as nicotine. Main effects of smoking, snus, and the rs1051730 variant and pairwise interaction terms (smoking × rs1051730 and snus × rs1051730) were tested in relation to body mass index (BMI; calculated as weight (kg)/height (m)²) through the use of multivariate linear models adjusted for age and sex. Smoking status and BMI were inversely related (β = -0.46 kg/m², standard error (SE) = 0.08; P < 0.0001). Snus use and BMI were positively related (β = 0.35 kg/m², SE = 0.12; P = 0.003). The rs1051730 variant was not significantly associated with smoking status or snus use (P > 0.05); the T allele was associated with lower BMI in the overall cohort (β = -0.10 kg/m², SE = 0.05; P = 0.03) and with smoking quantity in those in whom this was measured (n = 5,304) (β = 0.08, SE = 0.01; P < 0.0001). Neither smoking status (Pinteraction = 0.29) nor snus use (Pinteraction = 0.89) modified the association between the rs1051730 variant and BMI.

Abstrak: We show that, in the presence of uncontrolled environmental confounding, joint tests for the presence of a main genetic effect and gene-environment interaction will be biased if the genetic and environmental factors are correlated, even if there is no effect of either the genetic factor or the environmental factor on the disease. When environmental confounding is ignored, such tests will in fact reject the joint null of no genetic effect with a probability that tends to 1 as the sample size increases. This problem with the joint test vanishes under gene-environment independence, but it still persists if estimating the gene-environment interaction parameter itself is of interest. Uncontrolled environmental confounding will bias estimates of gene-environment interaction parameters even under gene-environment independence, but it will not do so if the unmeasured confounding variable itself does not interact with the genetic factor. Under gene-environment independence, if the interaction parameter without controlling for the environmental confounder is nonzero, then there is gene-environment interaction either between the genetic factor and the environmental factor of interest or between the genetic factor and the unmeasured environmental confounder. We evaluate several recently proposed joint tests in a simulation study and discuss the implications of these results for the conduct of gene-environment interaction studies.

Abstrak: A loss-of-function mutation (Q141K, rs2231142) in the ATP-binding cassette, subfamily G, member 2 gene (ABCG2) has been shown to be associated with serum uric acid levels and gout in Asians, Europeans, and European and African Americans; however, less is known about these associations in other populations. Rs2231142 was genotyped in 22,734 European Americans, 9,720 African Americans, 3,849 Mexican Americans, and 3,550 American Indians in the Population Architecture using Genomics and Epidemiology (PAGE) Study (2008-2012). Rs2231142 was significantly associated with serum uric acid levels (P = 2.37 × 10(-67), P = 3.98 × 10(-5), P = 6.97 × 10(-9), and P = 5.33 × 10(-4) in European Americans, African Americans, Mexican Americans, and American Indians, respectively) and gout (P = 2.83 × 10(-10), P = 0.01, and P = 0.01 in European Americans, African Americans, and Mexican Americans, respectively). Overall, the T allele was associated with a 0.24-mg/dL increase in serum uric acid level (P = 1.37 × 10(-80)) and a 1.75-fold increase in the odds of gout (P = 1.09 × 10(-12)). The association between rs2231142 and serum uric acid was significantly stronger in men, postmenopausal women, and hormone therapy users compared with their counterparts. The association with gout was also significantly stronger in men than in women. These results highlight a possible role of sex hormones in the regulation of ABCG2 urate transporter and its potential implications for the prevention, diagnosis, and treatment of hyperuricemia and gout.

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Di Indonesia, prevalensi KEK pada ibu hamil meningkat dari 16,9% pada tahun 2018 menjadi 17% pada tahun 2023. Padahal, dalam rangka menekan angka KEK pada ibu hamil, pemerintah Indonesia sejak tahun 2014 menerapkan program intervensi gizi bagi ibu hamil diantaranya mengimplementasikan pemberian makanan tambahan sesuai bahan pangan lokal, pemberian tablet TTD, dan kelas ibu hamil. Meskipun program gizi dan kesehatan ibu telah lama diimplementasikan di Indonesia, masalah KEK pada ibu hamil masih menjadi salah satu bentuk malnutrisi yang belum tertangani secara efektif. Penelitian ini bertujuan untuk mengetahui faktor-faktor yang berhubungan dengan risiiko KEK pada ibu hamil berdasarkan data SKI 2023. Desain penelitian ini adalah cross sectional dengan sampel ibu hamil yang berada pada kehamilan trimester 3 dan menggunakan uji regresi logsitik sederhana untuk analisis bivariat. Dari 5.055 ibu hamil yang berhasil disurvey, terdapat 1.383 data yang eligible untuk digunakan dalam penelitian ini. Hasil penelitian ini terdapat 153 (11,1%) ibu hamil dengan risiko KEK. Provinsi dengan kasus ibu hamil risiko KEK terbanyak di Indonesia adalah Jawa Tengah sebanyak 103 kasus (7,2%) sedangkan provinsi dengan kasus terendah adaalah Papua Pegunungan sebanyak 3 kasus (0,2%). Status sosial ekonomi keluarga terendah (OR 2,13; 95% CI 1,28 – 3,54), konsumsi buah ≤ 3 kali per bulan (OR 0,26; 95% CI 1,15 – 5,94), dan mengalami stres (OR 3,17; 95% CI 1,03 – 9,75) adalah faktor risiko yang berasosiasi dengan risiko KEK pada ibu hamil. Selain itu, faktor yang menunjukkan protektif terhadap risiko KEK pada ibu hamil adalah berumur > 35 tahun (OR 0,37; 95% CI 0,18 – 0,76). Oleh karena itu, program bantuan bagi keluarga ibu hamil miskin mampu mendukung pencegahan risiko KEK pada ibu hamil.

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In Indonesia, the prevalence of CED among pregnant women increased from 16.9% in 2018 to 17% in 2023. In fact, in order to reduce the rate of CED in pregnant women, the Indonesian government since 2014 has implemented nutrition intervention programmes for pregnant women including implementing supplementary feeding according to local food ingredients, providing TTD tablets, and pregnant women's classes. Although nutrition and maternal health programmes have long been implemented in Indonesia, the problem of CED in pregnant women is still one of the forms of malnutrition that has not been effectively addressed. This study aims to determine the factors associated with the risk of CED in pregnant women based on SKI 2023 data. The design of this study was cross sectional with a sample of pregnant women who were in the 3rd trimester of pregnancy and used simple logistic regression test for bivariate analysis. Of the 5,055 pregnant women surveyed, 1,393 were eligible to be used in this study. The results of this study showed that there were 153 (11.1%) pregnant women at risk of CED. The province with the most cases of pregnant women at risk of CED in Indonesia was Central Java with 103 cases (7.2%) while the province with the lowest cases was Papua Mountains with 3 cases (0.2%). Lowest family socioeconomic status (OR 2.13; 95% CI 1.28 - 3.54), fruit consumption ≤ 3 times per month (OR 0.26; 95% CI 1.15 - 5.94), and experiencing stress (OR 3.17; 95% CI 1.03 - 9.75) were risk factors associated with the risk of CED in pregnant women. In addition, the factor that showed protective against the risk of CED in pregnant women was being > 35 years old (OR 0.37; 95% CI 0.18 - 0.76). Therefore, the assistance programme for families of poor pregnant women can support the prevention of the risk of CED in pregnant women.