We previously reported genome-wide significant linkage to chromosome 3p in a sib-pair family sample from Indonesia. A promising candidate gene within the linked region is the metabotropic glutamate receptor subtype 7 (GRM7), involved in glutamatergic neurotransmission. We genotyped 18 single nucleotide polymorphisms in GRM7 in the sample of 124 Indonesian sib-pair families that had provided the significant linkage finding. Transmission disequilibrium analysis revealed nominally significant transmission distortion of rs17031835 in intron 1 of GRM7 (p=0.004, before correction for multiple testing), along with haplotypes containing rs17031835. No other single marker was found to be significantly associated with schizophrenia in our sample. The results from our study provide support for the idea that glutamatergic neurotransmission and specifically the GRM7 gene might be relevant to the development of schizophrenia. Further studies supporting this finding are warranted.
PIP5K2A variants have been shown to be associated with schizophrenia in Caucasian populations. This study tested 12 PIP5K2A SNPs for association with schizophrenia in a sample of 152 sib-pair families of Indonesian descent. All SNPs had previously been tested for association with schizophrenia in a German family sample by Schwab et al. [2006; Mol Psychiatry] and seven SNPs were nominally associated with schizophrenia in this previous study. The purpose of the study was to examine whether previously implicated PIP5K2A variants influence susceptibility to schizophrenia in populations of non-European descent. No single markers showed nominal association with schizophrenia in this Indonesian family sample, however multi-marker haplotypes including a previously associated exonic SNP marker revealed nominally significant association (P = 0.03). Power to detect association was greater than 80% for all previously implicated variants except for rs11013052, where power was greatly reduced due to the low minor allele frequency of this marker in the Indonesian sample. An explorative study combining the results of this study with those of our previous study indicated that rs11013052 was significantly associated with schizophrenia in the combined sample (P = 0.002). The results of this study suggest that any contribution of previously implicated DNA variants within the PIP5K2A gene to schizophrenia susceptibility in the Indonesian population is only minor.
[Bahasa]: Hipertensi dan diabetes melitus (DM) yaitu penyakit kronis yang membutuhkan perawatan berkelanjutan sebagai upaya untuk mengendalikan tekanan darah dan kadar gula darah. Keduanya memiliki kerentanan mengalami gangguan vaskular sehingga aliran sirkulasi darah tidak lancar, rentan mengalami gangguan ekstremitas kaki yang bermanifestasi menjadi sumbatan pada pembuluh darah, ulkus bahkan amputasi. Situasi pandemi akibat COVID-19, mengharuskan penderita tetap berada dirumah saja terutama pada individu dengan komorbid seperti hipertensi dan DM yang beresiko lebih tinggi tertular Covid-19, jika tidak ada situasi darurat. Tujuan pengabdian kepada masyarakat (PKM) ini adalah untuk memberikan pendidikan dan pelatihan buerger exercise dan perawatan kaki dalam upaya menurunkan resiko gangguan vaskular penderita DM dan hipertensi. Lokasi Kegiatan PKM di Lembaga Kesejahteraan Sosial Hargo Dedali, Surabaya dengan memperhatikan protokol kesehatan yang keta dengan melibatkan 21 peserta dengan rerata usia 59 tahun, 6 peserta (28,6%) mengalami hipertensi, 7 peserta (33,3%) mengalami DM dan 8 orang (38,1%) mengalami keduanya. Metode yang digunakan dalam PKM ini adalah pendekatan Community Based Research (CBR). Evaluasi akhir program PKM dengan membandingkan nilai pre test dan post test terhadap pengetahuan dan kondisi vaskular kaki serta pemeriksaan Ankle Brachial Index (ABI). Hasil pengukuran terhadap tingkat pengetahuan p = 0,000 (p < 0,05), kuesioner Vascular Quality of Life dengan p = 0,001 (p < 0,05) dan ABI dengan p = 0,002 (p < 0,05) sehingga terdapat perbedaan yang bermakna antara sebelum dan sesudah diberikan pendidikan dan pelatihan dalam hal peningkatan pengetahuan dan perbaikan fisik kondisi vaskular. Pemberdayaan penderita DM dan hipertensi melalui pendidikan dan praktik buerger exercise serta edukasi perawatan kaki dapat dijadikan upaya menurunkan resiko gangguan vaskular dan menguragi resiko komplikasi kaki. Kata Kunci: buerger exercise, perawatan kaki, diabetes, hipertensi Abstract: Hypertension and Diabetes Mellitus (DM) are chronic diseases that need continuous treatment to control blood pressure and blood sugar levels. The diseases are susceptible to vascular problems, so that blood circulation is not smooth and made prone to leg disorders that manifest as blockages in blood vessels, ulcers, and even amputations. Covid 19 pandemic requires people with the diseases stay at home if there is no emergency since they are at high risk of being infected. This community service (PKM) aims to provide education and training about Buerger exercises and foot care to reduce the risk of vascular disorders for people with DM and hypertension. The PKM, which took place at the Lembaga Kesejahteraan Sosial Hargo Dedali, Surabaya, with strict health protocols, included 21 participants (around 59 years old); 6 participants have hypertension, 7 participants have DM, and the remaining 8 participants have both diseases. It applied the Community Based Research (CBR) approach. The program's evaluation compared the scores of pre-test and post-test, which assess the participants’ knowledge and the examination of foot vascular condition. The results of evaluation are p = 0.000 (p <0.05) on the knowledge level, p = 0.001 (p <0.05) on the Vascular Quality of Life, and ABI with p = 0.002 (p <0.05). The numbers show a significant difference between before and after the program on the level of knowledge and the physical recovery of the vascular. The empowerment of people with DM and hypertension through the education and practice of Buerger exercises and foot care can be used to reduce the risk of vascular disorders and foot complications. Keywords: buerger exercise, foot care, diabetes, hypertension
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